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Jayaraman B, Kamalakaran A, Balaji D, Padmanaban K, Senthilkumar V, Ahamed N. Massive Osteolysis of the Mandible in Gorham's Disease: Our Case Experience. Cureus 2025; 17:e81063. [PMID: 40271301 PMCID: PMC12015763 DOI: 10.7759/cureus.81063] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 03/23/2025] [Indexed: 04/25/2025] Open
Abstract
Vanishing bone disease is an exceptionally rare condition marked by the progressive loss of bone, ultimately leading to its complete disappearance. The cause of this disease remains unknown, and it primarily affects the axial skeleton, pelvis, and humerus. Due to its atypical presentation and rarity, it is often mistaken for other disorders, making an accurate diagnosis challenging and typically a process of elimination. Gorham's disease has been documented in the maxillofacial region, with most involving the mandible. We present a case involving a 14-year-old male patient who exhibited Gorham's disease in the right mandible, characterized by the loosening of teeth.
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Affiliation(s)
- Balaji Jayaraman
- Oral and Maxillofacial Surgery, Tamil Nadu Government Dental College and Hospital, Chennai, IND
| | - Arunkumar Kamalakaran
- Oral and Maxillofacial Surgery, Tamil Nadu Government Dental College and Hospital, Chennai, IND
| | - Dakshayani Balaji
- Public Health Dentistry, Sri Ramachandra Dental College and Hospital, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND
| | - Kamalakannan Padmanaban
- Oral and Maxillofacial Surgery, Tamil Nadu Government Dental College and Hospital, Chennai, IND
| | - Vignesh Senthilkumar
- Oral and Maxillofacial Surgery, Tamil Nadu Government Dental College and Hospital, Chennai, IND
| | - Naif Ahamed
- Oral and Maxillofacial Surgery, Tamil Nadu Government Dental College and Hospital, Chennai, IND
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Solorzano E, Alejo AL, Ball HC, Robinson GT, Solorzano AL, Safadi R, Douglas J, Kelly M, Safadi FF. The Lymphatic Endothelial Cell Secretome Inhibits Osteoblast Differentiation and Bone Formation. Cells 2023; 12:2482. [PMID: 37887326 PMCID: PMC10605748 DOI: 10.3390/cells12202482] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/11/2023] [Revised: 09/15/2023] [Accepted: 09/18/2023] [Indexed: 10/28/2023] Open
Abstract
Complex lymphatic anomalies (CLAs) are a set of rare diseases with unique osteopathic profiles. Recent efforts have identified how lymphatic-specific somatic activating mutations can induce abnormal lymphatic formations that are capable of invading bone and inducing bone resorption. The abnormal bone resorption in CLA patients has been linked to overactive osteoclasts in areas with lymphatic invasions. Despite these findings, the mechanism associated with progressive bone loss in CLAs remains to be elucidated. In order to determine the role of osteoblasts in CLAs, we sought to assess osteoblast differentiation and bone formation when exposed to the lymphatic endothelial cell secretome. When treated with lymphatic endothelial cell conditioned medium (L-CM), osteoblasts exhibited a significant decrease in proliferation, differentiation, and function. Additionally, L-CM treatment also inhibited bone formation through a neonatal calvaria explant culture. These findings are the first to reveal how osteoblasts may be actively suppressed during bone lymphatic invasion in CLAs.
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Affiliation(s)
- Ernesto Solorzano
- Department of Anatomy and Neurobiology, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA; (E.S.); (A.L.A.); (H.C.B.); (G.T.R.); (A.L.S.)
- Musculoskeletal Research Group, NEOMED, Rootstown, OH 44272, USA;
- Basic and Translational Biomedicine (BTB) Graduate Program, College of Graduate Studies, NEOMED, Rootstown, OH 44272, USA;
| | - Andrew L. Alejo
- Department of Anatomy and Neurobiology, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA; (E.S.); (A.L.A.); (H.C.B.); (G.T.R.); (A.L.S.)
| | - Hope C. Ball
- Department of Anatomy and Neurobiology, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA; (E.S.); (A.L.A.); (H.C.B.); (G.T.R.); (A.L.S.)
- Musculoskeletal Research Group, NEOMED, Rootstown, OH 44272, USA;
- Basic and Translational Biomedicine (BTB) Graduate Program, College of Graduate Studies, NEOMED, Rootstown, OH 44272, USA;
| | - Gabrielle T. Robinson
- Department of Anatomy and Neurobiology, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA; (E.S.); (A.L.A.); (H.C.B.); (G.T.R.); (A.L.S.)
- Musculoskeletal Research Group, NEOMED, Rootstown, OH 44272, USA;
- Basic and Translational Biomedicine (BTB) Graduate Program, College of Graduate Studies, NEOMED, Rootstown, OH 44272, USA;
| | - Andrea L. Solorzano
- Department of Anatomy and Neurobiology, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA; (E.S.); (A.L.A.); (H.C.B.); (G.T.R.); (A.L.S.)
| | - Rama Safadi
- College of Arts and Sciences, Kent State University, Kent, OH 44243, USA;
| | - Jacob Douglas
- Musculoskeletal Research Group, NEOMED, Rootstown, OH 44272, USA;
| | - Michael Kelly
- Basic and Translational Biomedicine (BTB) Graduate Program, College of Graduate Studies, NEOMED, Rootstown, OH 44272, USA;
- Department of Pediatric Hematology Oncology and Blood, Cleveland Clinic, Cleveland, OH 44195, USA
| | - Fayez F. Safadi
- Department of Anatomy and Neurobiology, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA; (E.S.); (A.L.A.); (H.C.B.); (G.T.R.); (A.L.S.)
- Musculoskeletal Research Group, NEOMED, Rootstown, OH 44272, USA;
- Basic and Translational Biomedicine (BTB) Graduate Program, College of Graduate Studies, NEOMED, Rootstown, OH 44272, USA;
- Rebecca D. Considine Research Institute, Akron Children’s Hospital, Akron, OH 44308, USA
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Kumakura Y, Hasuda N, Akita K, Iijima T, Matsukawa T. Epidural Hematoma related to lower limb pain and massive liver bleeding in Gorham-Stout disease: A case report. Medicine (Baltimore) 2023; 102:e33950. [PMID: 37266611 PMCID: PMC10238027 DOI: 10.1097/md.0000000000033950] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/01/2023] [Accepted: 05/17/2023] [Indexed: 06/03/2023] Open
Abstract
RATIONALE Gorham-Stout disease (GSD) is a rare disease that causes massive osteolysis and proliferation of abnormal lymphangiomatous tissues. Patients with GSD often experience pain associated with bone fractures and chylothorax. However, bleeding caused by abnormal lymphangiomatous tissue or hematological dysfunction rarely occurs. PATIENT CONCERNS A 22-year-old female patient with GSD presented with severe left hip and lower limb pain. The GSD had disappeared her right pelvic bone and femur, but no abnormalities were found in the bones at the site of the pain. DIAGNOSES The patient presented with a chylothorax and cerebrospinal fluid leakage. She was treated with sirolimus and an epidural blood patch, and her symptoms resolved. Computed tomography and magnetic resonance imaging revealed an epidural hematoma extending from L3 to the caudal region, and blood results revealed a consumption coagulopathy. INTERVENTIONS We presumed that the hematoma caused pain and prescribed pregabalin and morphine. The pain gradually subsided. OUTCOMES An unexpected liver subcapsular hemorrhage occurred 4 months later, and the patient went into hemorrhagic shock. Transcatheter arterial embolization was promptly performed, and the patient recovered. LESSONS GSD infrequently causes bleeding related to abnormal lymphangiomatous tissues and coagulopathy, yet it can lead to serious events if it occurs.
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Affiliation(s)
- Yasutomo Kumakura
- Department of Anesthesiology, Faculty of Medicine, University of Yamanashi, Chuo, Japan
| | - Norio Hasuda
- Department of Surgery 2, Faculty of Medicine, University of Yamanashi, Chuo, Japan
| | - Kazuki Akita
- Department of Anesthesiology, Faculty of Medicine, University of Yamanashi, Chuo, Japan
| | - Tetsuya Iijima
- Department of Anesthesiology, Faculty of Medicine, University of Yamanashi, Chuo, Japan
| | - Takashi Matsukawa
- Department of Anesthesiology, Faculty of Medicine, University of Yamanashi, Chuo, Japan
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Xiang J, Zhong W. The molecular mechanism of Gorham syndrome: an update. Front Immunol 2023; 14:1165091. [PMID: 37215116 PMCID: PMC10196207 DOI: 10.3389/fimmu.2023.1165091] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/14/2023] [Accepted: 04/20/2023] [Indexed: 05/24/2023] Open
Abstract
Gorham syndrome, also known as "vanishing osteopathy" and "invasive hemangiomatosis," is a rare clinical syndrome whose etiology is unknown and can invade the whole-body skeleton. At present, more than 300 cases have been reported at home and abroad, usually manifesting as spontaneous chronic osteolysis with no periosteal reaction at the lysis site and occult onset, often with fractures, scoliosis, chylothorax, etc. When waiting for medical treatment, the condition is serious, and the prognosis is poor. At present, there is no effective treatment. The main pathological manifestations of Gorham syndrome are the non-neoplastic abnormal proliferation of lymphatic vessels or blood vessels and osteolysis caused by osteoclast proliferation or increased activity. At present, there is no unified conclusion regarding Gorham syndrome's pathogenesis. This paper starts with the two most studied osteolysis methods at present, osteoclast osteolysis and osteolysis caused by vascular and lymphatic proliferation and summarizes the corresponding most possible molecular mechanisms in recent years to provide more ideas for Gorham syndrome treatment.
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Affiliation(s)
- Juqin Xiang
- Chongqing Medical University, Chongqing, China
| | - Weiyang Zhong
- Department of Orthopaedics, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China
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Wojciechowska-Durczynska K, Zygmunt A, Mikulak M, Ludwisiak M, Lewinski A. Difficult Therapeutic Decisions in Gorham-Stout Disease-Case Report and Review of the Literature. INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH 2022; 19:ijerph191811692. [PMID: 36141975 PMCID: PMC9517245 DOI: 10.3390/ijerph191811692] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 07/25/2022] [Revised: 09/02/2022] [Accepted: 09/09/2022] [Indexed: 05/30/2023]
Abstract
Gorham-Stout disease (GSD) is a very rare, life-threatening condition characterized by the proliferation of lymphatic vessels and osteolysis. Unfortunately, no standard treatment has been determined for management of GSD. The available therapies are not equally effective and carry substantial side-effects. We report a 42-year-old female with GSD manifested in multifocal osteolysis and chronic chylothorax and ascites. The combined treatment with sirolimus and zoledronic acid due to its synergism of action was introduced. To our knowledge, this is the first Polish case report of adult patients with Gorham-Stout disease.
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Affiliation(s)
- Katarzyna Wojciechowska-Durczynska
- Department of Endocrinology and Metabolic Disease, Medical University of Lodz, 93-338 Lodz, Poland
- Department of Endocrinology and Metabolic Disease, Polish Mother’s Memorial Hospital–Research Institute, 93-338 Lodz, Poland
| | - Arkadiusz Zygmunt
- Department of Endocrinology and Metabolic Disease, Medical University of Lodz, 93-338 Lodz, Poland
- Department of Endocrinology and Metabolic Disease, Polish Mother’s Memorial Hospital–Research Institute, 93-338 Lodz, Poland
| | - Marta Mikulak
- Department of Endocrinology and Metabolic Disease, Polish Mother’s Memorial Hospital–Research Institute, 93-338 Lodz, Poland
| | - Marta Ludwisiak
- Department of Endocrinology and Metabolic Disease, Polish Mother’s Memorial Hospital–Research Institute, 93-338 Lodz, Poland
| | - Andrzej Lewinski
- Department of Endocrinology and Metabolic Disease, Medical University of Lodz, 93-338 Lodz, Poland
- Department of Endocrinology and Metabolic Disease, Polish Mother’s Memorial Hospital–Research Institute, 93-338 Lodz, Poland
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Solorzano E, Alejo AL, Ball HC, Magoline J, Khalil Y, Kelly M, Safadi FF. Osteopathy in Complex Lymphatic Anomalies. Int J Mol Sci 2022; 23:ijms23158258. [PMID: 35897834 PMCID: PMC9332568 DOI: 10.3390/ijms23158258] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/17/2022] [Revised: 07/07/2022] [Accepted: 07/16/2022] [Indexed: 11/16/2022] Open
Abstract
Complex Lymphatic Anomalies (CLA) are lymphatic malformations with idiopathic bone and soft tissue involvement. The extent of the abnormal lymphatic presentation and boney invasion varies between subtypes of CLA. The etiology of these diseases has proven to be extremely elusive due to their rarity and irregular progression. In this review, we compiled literature on each of the four primary CLA subtypes and discuss their clinical presentation, lymphatic invasion, osseous profile, and regulatory pathways associated with abnormal bone loss caused by the lymphatic invasion. We highlight key proliferation and differentiation pathways shared between lymphatics and bone and how these systems may interact with each other to stimulate lymphangiogenesis and cause bone loss.
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Affiliation(s)
- Ernesto Solorzano
- Department of Anatomy and Neurobiology, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA; (E.S.); (A.L.A.); (H.C.B.); (J.M.); (Y.K.); (M.K.)
- Musculoskeletal Research Group, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA
| | - Andrew L. Alejo
- Department of Anatomy and Neurobiology, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA; (E.S.); (A.L.A.); (H.C.B.); (J.M.); (Y.K.); (M.K.)
- Musculoskeletal Research Group, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA
| | - Hope C. Ball
- Department of Anatomy and Neurobiology, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA; (E.S.); (A.L.A.); (H.C.B.); (J.M.); (Y.K.); (M.K.)
- Musculoskeletal Research Group, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA
| | - Joseph Magoline
- Department of Anatomy and Neurobiology, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA; (E.S.); (A.L.A.); (H.C.B.); (J.M.); (Y.K.); (M.K.)
- Musculoskeletal Research Group, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA
| | - Yusuf Khalil
- Department of Anatomy and Neurobiology, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA; (E.S.); (A.L.A.); (H.C.B.); (J.M.); (Y.K.); (M.K.)
- Musculoskeletal Research Group, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA
| | - Michael Kelly
- Department of Anatomy and Neurobiology, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA; (E.S.); (A.L.A.); (H.C.B.); (J.M.); (Y.K.); (M.K.)
- Department of Pediatric Hematology Oncology and Blood, Cleveland Clinic, Cleveland, OH 44195, USA
| | - Fayez F. Safadi
- Department of Anatomy and Neurobiology, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA; (E.S.); (A.L.A.); (H.C.B.); (J.M.); (Y.K.); (M.K.)
- Musculoskeletal Research Group, Northeast Ohio Medical University (NEOMED), Rootstown, OH 44272, USA
- Rebecca D. Considine Research Institute, Akron Children’s Hospital, Akron, OH 44308, USA
- School of Biomedical Sciences, Kent State University, Kent, OH 44243, USA
- Correspondence: ; Tel.: +1-330-325-6619
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Di H, Zhang B, Xu N, Yin Y, Han X, Zhang Y, Zeng X. Refractory serositis in Gorham–Stout syndrome. Orphanet J Rare Dis 2022; 17:152. [PMID: 35379268 PMCID: PMC8981938 DOI: 10.1186/s13023-022-02307-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/25/2022] [Accepted: 03/23/2022] [Indexed: 11/23/2022] Open
Abstract
Background Gorham–Stout syndrome (GSS) is a rare disorder with various presentations and unpredictable prognoses. Previous understandings of GSS mainly focused on progressive bone destruction, while we identified a group of GSS patients with serous effusion as the first symptom. This study aimed to investigate the clinical characteristics of patients with GSS having serous effusion as the first symptom. Methods Patients diagnosed with GSS were identified through the Peking Union Medical College Hospital Medical Record System. The demographic, clinical, laboratory, and imaging data were collected. Patients who first presented with serous effusion were recruited into the serous group, while those with bone destruction were recruited into the bone group. Results Of the 23 patients with GSS enrolled, 13 were in the bone group and 10 in the serous group. The median disease duration was shorter and exercise tolerance was lower in the serous group. Despite less frequent bone pain in the serous group, the frequency of bone involvement was similar to that in the bone group. Patients in the serous group had higher rates of bilateral pleural effusion and multiple serous effusion. However, serous effusion also developed with disease progression in the bone group. Of the 17 patients treated with bisphosphonates, 14 reached bone-stable state. However, 5 out of 10 patients with serous effusion still had refractory effusions after bisphosphonates treatment. Three patients received sirolimus treatment, with an improvement in serous effusion. Seventeen patients were followed up; three patients died, two in the bone group and one in the serous group. Conclusions This study discovered that GSS could first be presented with serous effusion. We believe that this may be a new phenotype of the disease. Sirolimus might help in controlling serous effusion and improving prognosis.
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Sansare K, Saalim M, Jogdand M, Karjodkar FR, Sreenivasan V. Radiographic extent of maxillofacial Gorham's disease and its impact on recurrence: A systematic review. Oral Surg Oral Med Oral Pathol Oral Radiol 2021; 132:80-92. [PMID: 34020915 DOI: 10.1016/j.oooo.2021.03.016] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/30/2020] [Revised: 03/18/2021] [Accepted: 03/20/2021] [Indexed: 12/01/2022]
Abstract
OBJECTIVE This systematic review assessed the radiographic extent of maxillofacial Gorham's disease and its impact on recurrence. STUDY DESIGN PubMed and Cochrane databases were searched. The key words were (Gorham Disease OR Vanishing Bone Disease OR Gorham Stout Syndrome) AND (Jaw OR Maxilla OR Mandible OR Maxillofacial). RESULTS Forty-one cases from 39 articles were included. Based on radiographic extent, the lesions were classified as large or small. Most cases occurred in the mandible (24), followed by a combination of maxilla and/or mandible and other bones (12), both mandible and maxilla (3), and maxilla only (2). Only mandibular cases were analyzed for radiographic extent. Of the 24 mandibular lesions, 16 were large and 8 were small. Nine of the large lesions occurred in the young age group with 2 recurrences, followed by 5 in the middle-aged group with 1 recurrence. Small lesions were nearly equally distributed over the age groups, with 2 recurrences in the middle-aged group and 1 recurrence in the adult age group. Age, sex, and lesion size had no significant effect on recurrence. CONCLUSIONS Radiographic extent of the lesion does not impact recurrence, suggesting a possible existence of aggressive and nonaggressive variants of maxillofacial Gorham's disease.
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Affiliation(s)
- Kaustubh Sansare
- Associate Professor, Oral Medicine and Radiology, Nair Hospital Dental College, Mumbai, India.
| | - Mohd Saalim
- Dental Surgeon, CHC Bhojpur, Moradabad, India
| | - Madhuri Jogdand
- PG Resident, Oral Medicine and Radiology, Nair Hospital Dental College, Mumbai, India
| | - Freny R Karjodkar
- Professor, Oral Medicine and Radiology, Nair Hospital Dental College, Mumbai, India
| | - V Sreenivasan
- Professor Head and Dean, Oral Medicine and Radiology, Bharathi Vidyapeeth Dental College and Hospital, CBD Belapur, Navi Mumbai, India
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Vaishya R, Vaish A, Singh LK, Baweja P. Management of a pathological fracture in a rare case of Gorham Stout disease of the hip with a mega prosthesis. J Orthop 2020; 18:177-180. [PMID: 32042222 PMCID: PMC7000433 DOI: 10.1016/j.jor.2019.08.003] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/22/2019] [Revised: 06/06/2019] [Accepted: 08/09/2019] [Indexed: 10/26/2022] Open
Abstract
Gorham-Stout disease (GSD) is a rare bone disease of unknown etiology, characterized by spontaneous and progressive resorption of bones. This disease occurs most commonly in males of the age group of fewer than 40 years and has no genetic predisposition. It most commonly affects the skull, spine, pelvis and shoulder girdle. The diagnosis of GSD is established based on the combination of clinical, radiologic, and histological features, after excluding other diseases. There is no standard treatment for it so far, and the therapy depends on patient's clinical condition and may include surgery, radiotherapy, and drugs, with varying degrees of success. To the best of our knowledge such involvement of hip and its treatment by a megaprosthesis, in an elderly lady by GSD has not been reported. This case report describes an unusual presentation of the disease of the hip in an elderly female successfully treated with replacement of the deficient proximal femur by using a bipolar hip mega prosthesis of the hip (XLO, India).
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Affiliation(s)
- Raju Vaishya
- Department of Orthopaedics and Joint Replacement Surgery, Indraprastha Apollo Hospitals, Sarita Vihar, New Delhi, 110076, India
| | - Abhishek Vaish
- Department of Orthopaedics and Joint Replacement Surgery, Indraprastha Apollo Hospitals, Sarita Vihar, New Delhi, 110076, India
| | - Lokesh Kumar Singh
- Department of Orthopaedics and Joint Replacement Surgery, Indraprastha Apollo Hospitals, Sarita Vihar, New Delhi, 110076, India
| | - Pankaj Baweja
- Department of Pathology, Indraprastha Apollo Hospitals, SaritaVihar, New Delhi, 110076, India
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Chrcanovic BR, Gomez RS. Gorham-Stout disease with involvement of the jaws: a systematic review. Int J Oral Maxillofac Surg 2019; 48:1015-1021. [PMID: 30898430 DOI: 10.1016/j.ijom.2019.03.002] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/02/2019] [Accepted: 03/05/2019] [Indexed: 01/21/2023]
Abstract
The purpose of this study was to systematically review all published cases of Gorham-Stout disease (GSD) involving the jaws and to identify the clinico-radiological and histopathological features associated with persistence of the lesions, as well as the best treatment options available. An electronic search was undertaken in November 2018. Eligibility criteria included publications with sufficient information to confirm the diagnosis. Eighty-six publications reporting 89 cases were included. Features observed included symptomatic disease (51.1%), swelling (34.1%), pathological fracture (31.8%), history of previous trauma (32.1%), high alkaline phosphatase levels (24.3%), and predominance of vascular tissue (72.4%). Nearly a quarter of the patients were only followed up, with no treatment implemented. Most treatments consisted of some type of surgery with/without additional therapies (42.0%), drugs (20.5%), and radiotherapy (14.8%). Half of the cases were found to persist after some treatment modality, and five patients died. Among the variables investigated, only a lesion crossing the midline showed an association with persistence of the disease. There remains much to understand about GSD, a rare condition with no clear consensus on the aetiopathology, an unpredictable clinical course, and no standard treatment. The high rate of persistence after treatment was found to be associated only with the lesion crossing the midline.
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Affiliation(s)
- B R Chrcanovic
- Department of Prosthodontics, Faculty of Odontology, Malmö University, Malmö, Sweden.
| | - R S Gomez
- Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil
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11
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Nozawa A, Ozeki M, Hori T, Kato H, Ohe N, Fukao T. Fatal Progression of Gorham-Stout Disease with Skull Base Osteomyelitis and Lateral Medullary Syndrome. Intern Med 2019; 58:1929-1933. [PMID: 30799352 PMCID: PMC6663530 DOI: 10.2169/internalmedicine.2118-18] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/06/2022] Open
Abstract
Gorham-Stout disease (GSD) is a rare condition in which spontaneous, progressive resorption of bone occurs. There are no previous reports of patients with fatal progression of GSD with skull base osteomyelitis (SBO) and lateral medullary syndrome (LMS). We present the case of a 27-year-old man diagnosed with GSD with involvement of the maxillofacial bones and skull base. The patient developed SBO; LMS resulted from progressive osteolysis, and the patient died of associated brainstem stroke. Careful follow-up with special emphasis on the early detection of intracranial complications is critical in patients presenting with progressive GSD with involvement of the skull base.
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Affiliation(s)
- Akifumi Nozawa
- Department of Pediatrics, Gifu University Graduate School of Medicine, Japan
| | - Michio Ozeki
- Department of Pediatrics, Gifu University Graduate School of Medicine, Japan
| | - Tomohiro Hori
- Department of Pediatrics, Gifu University Graduate School of Medicine, Japan
| | - Hiroki Kato
- Department of Radiology, Gifu University Graduate School of Medicine, Japan
| | - Naoyuki Ohe
- Department of Neurosurgery, Gifu University Graduate School of Medicine, Japan
| | - Toshiyuki Fukao
- Department of Pediatrics, Gifu University Graduate School of Medicine, Japan
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12
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Tena-Sanabria ME, Jesús-Mejenes LY, Fuentes-Herrera G, Álvarez-Martínez FA, Victorio-García NP, Núñez-Enríquez JC. A report of two children with Gorham-Stout disease. BMC Pediatr 2019; 19:206. [PMID: 31234820 PMCID: PMC6591827 DOI: 10.1186/s12887-019-1561-0] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/15/2018] [Accepted: 05/28/2019] [Indexed: 12/27/2022] Open
Abstract
BACKGROUND Gorham-Stout disease is a rare condition characterized by unifocal and massive type IV osteolysis (variant of idiopathic nonhereditary osteolytic disease) with a slow progression, which is self-limiting for some years. It is characterized by recurrent vascular tumors with disruption of the anatomical architecture and intraosseous proliferation of vascular channels that leads to the destruction and resorption of the bone matrix. The aim of this study is to present the clinical features of this disease, as well as the importance of prompt diagnosis and treatment, with a review of the reported cases. CASE REPORTS We describe two cases of Gorham-Stout disease between 2013 and 2017 with surgical interventions, follow-up and results. Case one involves an 11-year-old male with involvement of the left iliac bone, with adequate evolution after a surgical procedure with a lyophilized cadaveric tricortical bone allograft. Case two involves a 6-year-old male with cervical spine C1-C3 repercussion; in the protocol for surgical treatment, he presented with signs of spinal cord compression and died. CONCLUSION Diagnosis of Gorham-Stout disease is made by exclusion, and its clinical presentation varies widely, from spontaneous remission to a fatal outcome.
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Affiliation(s)
- Mario Edgar Tena-Sanabria
- Unidad Médica de Alta Especialidad, Servicio de Ortopedia Pediátrica, Hospital de Pediatría "Dr. Silvestre Frenk Freund", Centro Médico Nacional "Siglo XXI", Instituto Mexicano del Seguro Social, Mexico City, Mexico
| | - Larisa Yarindy Jesús-Mejenes
- Unidad Médica de Alta Especialidad, Servicio de Ortopedia Pediátrica, Hospital de Pediatría "Dr. Silvestre Frenk Freund", Centro Médico Nacional "Siglo XXI", Instituto Mexicano del Seguro Social, Mexico City, Mexico
| | - Gabriela Fuentes-Herrera
- Unidad Médica de Alta Especialidad, Servicio de Ortopedia Pediátrica, Hospital de Pediatría "Dr. Silvestre Frenk Freund", Centro Médico Nacional "Siglo XXI", Instituto Mexicano del Seguro Social, Mexico City, Mexico
| | - Félix Alejandro Álvarez-Martínez
- Unidad Médica de Alta Especialidad, Servicio de Ortopedia Pediátrica, Hospital de Pediatría "Dr. Silvestre Frenk Freund", Centro Médico Nacional "Siglo XXI", Instituto Mexicano del Seguro Social, Mexico City, Mexico
| | - Nora Patricia Victorio-García
- Unidad de Investigación en Epidemiología Clínica, Hospital de Pediatría "Dr. Silvestre Frenk Freund", Centro Médico Nacional "Siglo XXI", Instituto Mexicano del Seguro Social, Avenida Cuauhtémoc 330. Colonia Doctores Delegación Cuauhtémoc C.P, 06720, Mexico City, Mexico
| | - Juan Carlos Núñez-Enríquez
- Unidad de Investigación en Epidemiología Clínica, Hospital de Pediatría "Dr. Silvestre Frenk Freund", Centro Médico Nacional "Siglo XXI", Instituto Mexicano del Seguro Social, Avenida Cuauhtémoc 330. Colonia Doctores Delegación Cuauhtémoc C.P, 06720, Mexico City, Mexico.
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13
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Zanelli M, Zizzo M, Martino G, Bisagni A, De Marco L, Ascani S. Bone Marrow Biopsy Disclosing a Rare Osteolytic Disorder: Gorham-Stout Syndrome. Int J Surg Pathol 2019; 28:76-77. [PMID: 31018723 DOI: 10.1177/1066896919844319] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/05/2023]
Affiliation(s)
- Magda Zanelli
- Azienda Unità Sanitaria Locale/IRCCS di Reggio Emilia, Reggio Emilia, Italy
| | - Maurizio Zizzo
- Azienda Unità Sanitaria Locale/IRCCS di Reggio Emilia, Reggio Emilia, Italy.,University of Modena and Reggio Emilia, Modena, Italy
| | | | - Alessandra Bisagni
- Azienda Unità Sanitaria Locale/IRCCS di Reggio Emilia, Reggio Emilia, Italy
| | - Loredana De Marco
- Azienda Unità Sanitaria Locale/IRCCS di Reggio Emilia, Reggio Emilia, Italy
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14
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Matsumoto T, Naito M, Hirose J, Nakada I, Morikawa T, Tanaka S. Gorham-Stout Syndrome of the Shoulder Girdle Successfully Controlled by Antiresorptive Agents: A Report of 2 Cases. JBJS Case Connect 2019; 9:e0285. [PMID: 31211750 DOI: 10.2106/jbjs.cc.18.00285] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 06/09/2023]
Abstract
CASE Gorham-Stout disease (GSD) is a rare disorder characterized by massive bone destruction. Consensus is lacking on the effective treatment strategies for GSD. This report presents 2 cases of GSD, a 47-year-old man and a 72-year-old woman, involving the shoulder girdle which were successfully controlled by antiresorptive agents including bisphosphonates and denosumab, the antireceptor activator of nuclear factor-κB ligand antibody. CONCLUSIONS These 2 cases suggest that antiresorptive agents targeting osteoclasts can be efficacious therapeutic options for GSD. This is the first case of GSD we are aware of which showed good response to denosumab treatment.
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Affiliation(s)
- Takumi Matsumoto
- Department of Orthopaedic Surgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan
| | - Masashi Naito
- Department of Orthopaedic Surgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan
| | - Jun Hirose
- Department of Orthopaedic Surgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan
| | - Izumi Nakada
- Department of Orthopaedic Surgery, Tokyo Metropolitan Bokuto General Hospital, Sumida-ku, Tokyo, Japan
| | - Teppei Morikawa
- Department of Pathology, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan
| | - Sakae Tanaka
- Department of Orthopaedic Surgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan
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15
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Zhang S, Wu D, Shi L, Zhang Y, Long K, Fan Y, Zhu B, Jin X, Ren Y, Zhang C, Wang P. Gorham disease of the mandible: a report of two cases and a literature review. Oral Surg Oral Med Oral Pathol Oral Radiol 2018; 127:e71-e76. [PMID: 30266374 DOI: 10.1016/j.oooo.2018.08.008] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/16/2017] [Revised: 07/03/2018] [Accepted: 08/23/2018] [Indexed: 11/15/2022]
Abstract
Gorham disease, a rare disorder of unknown etiology, is characterized by the clinical and radiologic disappearance of bone. Because the etiology is unknown, diagnosis is difficult. Therefore, radiographic manifestations play a vital role in the diagnosis of this disease. Thus far, there has been no completely effective treatment. Most remedies are limited to symptom management. Despite the fact that any bone can be affected, one of the most prevalent sites is the maxillofacial region. In this paper, 2 cases of Gorham disease involving the maxillofacial region are reported, including preoperative and postoperative radiographic features.
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Affiliation(s)
- Sheng Zhang
- Medical college, Xijing University, Xi'an City, Shaanxi Province, China
| | - Dandan Wu
- State Key Laboratory of Military Stomatology and National Clinical Research Center for Oral Diseases and Shaanxi Clinical Research Center for Oral Diseases, Department of Radiology, School of Stomatology, Xian, China
| | - Liqiang Shi
- State Key Laboratory of Military Stomatology and National Clinical Research Center for Oral Diseases and Shaanxi Clinical Research Center for Oral Diseases, Department of Radiology, School of Stomatology, Xian, China
| | - Yuxing Zhang
- Medical college, Xijing University, Xi'an City, Shaanxi Province, China
| | - Kaiping Long
- Medical college, Xijing University, Xi'an City, Shaanxi Province, China
| | - Yun Fan
- State Key Laboratory of Military Stomatology and National Clinical Research Center for Oral Diseases and Shaanxi Clinical Research Center for Oral Diseases, Department of Radiology, School of Stomatology, Xian, China
| | - Bing Zhu
- State Key Laboratory of Military Stomatology and National Clinical Research Center for Oral Diseases and Shaanxi Clinical Research Center for Oral Diseases, Department of Radiology, School of Stomatology, Xian, China
| | - Xiaohang Jin
- Medical college, Xijing University, Xi'an City, Shaanxi Province, China
| | - Yan Ren
- Medical college, Xijing University, Xi'an City, Shaanxi Province, China
| | - Chunli Zhang
- Medical college, Xijing University, Xi'an City, Shaanxi Province, China
| | - Pei Wang
- State Key Laboratory of Military Stomatology and National Clinical Research Center for Oral Diseases and Shaanxi Clinical Research Center for Oral Diseases, Department of Radiology, School of Stomatology, Xian, China.
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16
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Li MH, Zhang HQ, Lu YJ, Gao P, Huang H, Hu YC, Wang Z. Successful Management of Gorham-Stout Disease in Scapula and Ribs: A Case Report and Literature Review. Orthop Surg 2018; 10:276-280. [PMID: 30101546 DOI: 10.1111/os.12390] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/24/2017] [Accepted: 12/22/2017] [Indexed: 12/14/2022] Open
Abstract
Gorham-Stout disease (GSD) is an extremely rare bone condition of unknown etiology characterized by spontaneous and progressive resorption of bones. GSD can occur at any age and is not related to gender, genetic inheritance, or race. Any part of the skeleton can be affected and the symptoms correlate with the sites involved. The diagnosis of GSD is established based on the combination of clinical, radiologic, and histologic features after excluding other diseases. Because of its rarity, current knowledge is limited to case reports and there is no agreement on the best strategy for treatment. The following case report describes a successfully treated case of GSD in a 26-year-old male patient with the left scapula and the 7th-9th left ribs involved. The patient was diagnosed with osteoporosis-related pleural effusion at a local hospital. In our institution, the patient was diagnosed with GSD and treated with radiotherapy and bisphosphonate. The disease was controlled and there was no evidence of disease progression during follow-up. Genetic sequencing was performed to investigate the etiology of GSD. In addition, the present study reviews the theories regarding the etiology, the clinical manifestations, the diagnostic approaches, and treatment options for this rare disease.
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Affiliation(s)
- Ming-Hui Li
- Department of Orthopaedics, Xijing Hospital, Fourth Military Medical University, Xi'an, China
| | - Hao-Qiang Zhang
- Department of Joint Surgery, General Hospital of Lanzhou Military Region, Lanzhou, China
| | - Ya-Jie Lu
- Department of Orthopaedics, Xijing Hospital, Fourth Military Medical University, Xi'an, China
| | - Peng Gao
- Department of Orthopaedics, Xijing Hospital, Fourth Military Medical University, Xi'an, China
| | - Hai Huang
- Department of Orthopaedics, Xijing Hospital, Fourth Military Medical University, Xi'an, China
| | - Yong-Cheng Hu
- Department of Bone Oncology, Tianjin Hospital, Tianjin, China
| | - Zhen Wang
- Department of Orthopaedics, Xijing Hospital, Fourth Military Medical University, Xi'an, China
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17
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Hominick D, Silva A, Khurana N, Liu Y, Dechow PC, Feng JQ, Pytowski B, Rutkowski JM, Alitalo K, Dellinger MT. VEGF-C promotes the development of lymphatics in bone and bone loss. eLife 2018; 7:34323. [PMID: 29620526 PMCID: PMC5903859 DOI: 10.7554/elife.34323] [Citation(s) in RCA: 46] [Impact Index Per Article: 6.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/13/2017] [Accepted: 03/22/2018] [Indexed: 01/28/2023] Open
Abstract
Patients with Gorham-Stout disease (GSD) have lymphatic vessels in their bones and their bones gradually disappear. Here, we report that mice that overexpress VEGF-C in bone exhibit a phenotype that resembles GSD. To drive VEGF-C expression in bone, we generated Osx-tTA;TetO-Vegfc double-transgenic mice. In contrast to Osx-tTA mice, Osx-tTA;TetO-Vegfc mice developed lymphatics in their bones. We found that inhibition of VEGFR3, but not VEGFR2, prevented the formation of bone lymphatics in Osx-tTA;TetO-Vegfc mice. Radiological and histological analysis revealed that bones from Osx-tTA;TetO-Vegfc mice were more porous and had more osteoclasts than bones from Osx-tTA mice. Importantly, we found that bone loss in Osx-tTA;TetO-Vegfc mice could be attenuated by an osteoclast inhibitor. We also discovered that the mutant phenotype of Osx-tTA;TetO-Vegfc mice could be reversed by inhibiting the expression of VEGF-C. Taken together, our results indicate that expression of VEGF-C in bone is sufficient to induce the pathologic hallmarks of GSD in mice.
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Affiliation(s)
- Devon Hominick
- Hamon Center for Therapeutic Oncology Research, UT Southwestern Medical Center, Dallas, United States
| | - Asitha Silva
- Hamon Center for Therapeutic Oncology Research, UT Southwestern Medical Center, Dallas, United States
| | - Noor Khurana
- Hamon Center for Therapeutic Oncology Research, UT Southwestern Medical Center, Dallas, United States
| | - Ying Liu
- Biomedical Sciences, Texas A&M College of Dentistry, Dallas, United States
| | - Paul C Dechow
- Biomedical Sciences, Texas A&M College of Dentistry, Dallas, United States
| | - Jian Q Feng
- Biomedical Sciences, Texas A&M College of Dentistry, Dallas, United States
| | | | - Joseph M Rutkowski
- Division of Lymphatic Biology, Department of Medical Physiology, Texas A&M College of Medicine, Texas, United States
| | - Kari Alitalo
- Wihuri Research Institute and Translational Cancer Biology Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
| | - Michael T Dellinger
- Hamon Center for Therapeutic Oncology Research, UT Southwestern Medical Center, Dallas, United States.,Hamon Center for Regenerative Science and Medicine, UT Southwestern Medical Center, Dallas, United States.,Division of Surgical Oncology, Department of Surgery, UT Southwestern Medical Center, Dallas, United States
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18
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Abstract
Massive osteolysis in a 7-year old child is a rare condition. The etiology of massive osteolysis is unknown and it results in the progressive destruction of bony structures. There is no standard therapy available in the literature. Conservative treatment is often used for its management. Radiotherapy is considered as an accepted form of treatment with greater chance of success when it is used in the early course of disease. There are few case reports in the literature in which radiotherapy has been used for the treatment. This article highlights the literature update on various treatment modalities and a case managed by radiation therapy.
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19
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Lova F, Vengal M, Ahsan A, Kr A, Peter T, Gangadharan H. Gorham disease involving the maxillofacial bones: A perplexing entity. Radiol Case Rep 2017; 13:96-100. [PMID: 29552248 PMCID: PMC5851434 DOI: 10.1016/j.radcr.2017.09.016] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/01/2017] [Revised: 09/11/2017] [Accepted: 09/11/2017] [Indexed: 11/04/2022] Open
Abstract
Gorham disease is a rare disorder with progressive osteolysis which leads to the vanishing of bones. Its etiology and ideal management strategy are still an enigma. A case of Gorham disease involving the maxillofacial region in a 25-year-old male with an emphasis on etiology and diagnosis is discussed.
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Affiliation(s)
- Festi Lova
- Oral Medicine and Radiology Department, KMCT Dental College, Calicut, Kerala, India
| | - Manoj Vengal
- Oral Medicine and Radiology Department, KMCT Dental College, Calicut, Kerala, India
| | - Auswaf Ahsan
- Oral Medicine and Radiology Department, KMCT Dental College, Calicut, Kerala, India
| | - Ashir Kr
- Oral Medicine and Radiology Department, KMCT Dental College, Calicut, Kerala, India
| | - Tim Peter
- Oral Medicine and Radiology Department, KMCT Dental College, Calicut, Kerala, India
| | - Hamesh Gangadharan
- Oral Medicine and Radiology Department, KMCT Dental College, Calicut, Kerala, India
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20
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Wang W, Wang H, Zhou X, Li X, Sun W, Dellinger M, Boyce BF, Xing L. Lymphatic Endothelial Cells Produce M-CSF, Causing Massive Bone Loss in Mice. J Bone Miner Res 2017; 32:939-950. [PMID: 28052488 PMCID: PMC5413433 DOI: 10.1002/jbmr.3077] [Citation(s) in RCA: 26] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/18/2016] [Revised: 12/22/2016] [Accepted: 12/30/2016] [Indexed: 11/08/2022]
Abstract
Gorham-Stout disease (GSD) is a rare bone disorder characterized by aggressive osteolysis associated with lymphatic vessel invasion within bone marrow cavities. The etiology of GSD is not known, and there is no effective therapy or animal model for the disease. Here, we investigated if lymphatic endothelial cells (LECs) affect osteoclasts (OCs) to cause a GSD osteolytic phenotype in mice. We examined the effect of a mouse LEC line on osteoclastogenesis in co-cultures. LECs significantly increased receptor activator of NF-κB ligand (RANKL)-mediated OC formation and bone resorption. LECs expressed high levels of macrophage colony-stimulating factor (M-CSF), but not RANKL, interleukin-6 (IL-6), and tumor necrosis factor (TNF). LEC-mediated OC formation and bone resorption were blocked by an M-CSF neutralizing antibody or Ki20227, an inhibitor of the M-CSF receptor, c-Fms. We injected LECs into the tibias of wild-type (WT) mice and observed massive osteolysis on X-ray and micro-CT scans. Histology showed that LEC-injected tibias had significant trabecular and cortical bone loss and increased OC numbers. M-CSF protein levels were significantly higher in serum and bone marrow plasma of mice given intra-tibial LEC injections. Immunofluorescence staining showed extensive replacement of bone and marrow by podoplanin+ LECs. Treatment of LEC-injected mice with Ki20227 significantly decreased tibial bone destruction. In addition, lymphatic vessels in a GSD bone sample were stained positively for M-CSF. Thus, LECs cause bone destruction in vivo in mice by secreting M-CSF, which promotes OC formation and activation. Blocking M-CSF signaling may represent a new therapeutic approach for treatment of patients with GSD. Furthermore, tibial injection of LECs is a useful mouse model to study GSD. © 2017 American Society for Bone and Mineral Research.
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Affiliation(s)
- Wensheng Wang
- The 1st Affiliated Hospital, Xinxiang Medical University, Xinxiang, China.,Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY, USA
| | - Hua Wang
- Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY, USA.,Institute of Stomatology, Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University, Nanjing, China
| | - Xichao Zhou
- Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY, USA
| | - Xing Li
- Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY, USA
| | - Wen Sun
- Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY, USA
| | - Michael Dellinger
- Department of Surgery, University of Texas Southwestern Medical Center, Dallas, TX, USA
| | - Brendan F Boyce
- Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY, USA.,Center for Musculoskeletal Research, University of Rochester Medical Center, Rochester, NY, USA
| | - Lianping Xing
- Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY, USA.,Center for Musculoskeletal Research, University of Rochester Medical Center, Rochester, NY, USA
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21
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From tooth extraction to Gorham-Stout disease: A case report. Int J Surg Case Rep 2017; 34:110-114. [PMID: 28384557 PMCID: PMC5382024 DOI: 10.1016/j.ijscr.2017.03.028] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/15/2017] [Revised: 03/17/2017] [Accepted: 03/18/2017] [Indexed: 12/11/2022] Open
Abstract
Gorham-Stout disease (GSD) is a very rare idiopathic bone disorder characterised by spontaneous and progressive osteolysis, associated with angiomatous proliferation and soft tissue swelling without new bone formation. The clinical presentation of GSD includes pain, functional impairment, and swelling, although a few asymptomatic cases have been reported, similar to our case. We present this rare case of GSD with several localisations to emphasise that any procedure appearing to be simple can go catastrophically wrong and can result in the discovery of something that is unexpected and extremely rare. We wish to emphasise the extreme rarity of the case, focusing on the large difference between the preoperative panoramic radiograph and whole-body CT and MRI images obtained on the day after the first surgical procedure. Introduction Gorham-Stout disease (GSD), or vanishing bone disease, is a very rare condition of unknown aetiology. It is characterised by progressive osteolysis and angiomatosis. Case presentation We report the discovery of this very rare disease following a trivial deciduous tooth extraction in a 14-year-old female. We focus initially on the difference between the preoperative orthopantomography and the whole-body computed tomography and magnetic resonance images obtained post-haemorrhage, and then on the improvement of strategies for the correct diagnosis and treatment of this disease. Discussion Bone loss and the proliferation of vascular structures can occur in a single bone or spread to soft tissue and adjacent bone; areas commonly affected by GSD include the ribs, spine, pelvis, skull, clavicle, and the maxillofacial area. The clinical presentation of GSD includes pain, functional impairment, and swelling, although a few asymptomatic cases have been reported, similar to our case. Conclusion We report a very rare case of this multicentric disease in an asymptomatic child who presented for dental extraction, almost died, and was then diagnosed with and treated for GSD.
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22
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Understanding venous malformations of the head and neck: a comprehensive insight. Med Oncol 2017; 34:42. [PMID: 28181207 DOI: 10.1007/s12032-017-0896-3] [Citation(s) in RCA: 43] [Impact Index Per Article: 5.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/30/2016] [Accepted: 01/23/2017] [Indexed: 01/10/2023]
Abstract
Venous malformations (VMs) are congenital vascular malformations. They are very often misnamed and thus incorrectly managed. The aim of the present paper is to provide the reader with the most updated literature available and to offer a detailed description of each single aspect of this disease. In detail, the paper discusses the epidemiology, the embryological origins and the physiopathology of VMs. Then, the clinical features of sporadic, inherited and syndromic VMs are discussed. The instrumental diagnosis is presented, and the role of US, CT, MRI and phlebography is pointed out. Differential diagnoses with other vascular malformations and tumors are described. The clinical session ends with the staging of VMs relying on MRI and rheological features. All aspects of treatment are described: conservative measures, medical treatment, sclerotherapy, laser and surgery are thoroughly discussed. A section is reserved to bony VMs. Their clinical aspects and the appropriate treatment are presented.
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23
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Sabokbar A, Mahoney DJ, Hemingway F, Athanasou NA. Non-Canonical (RANKL-Independent) Pathways of Osteoclast Differentiation and Their Role in Musculoskeletal Diseases. Clin Rev Allergy Immunol 2017; 51:16-26. [PMID: 26578261 DOI: 10.1007/s12016-015-8523-6] [Citation(s) in RCA: 44] [Impact Index Per Article: 5.5] [Reference Citation Analysis] [Abstract] [Key Words] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/27/2023]
Abstract
Osteoclasts are multinucleated cells derived from mononuclear phagocyte precursors (monocytes, macrophages); in the canonical pathway of osteoclastogenesis, these cells fuse and differentiate to form specialised bone-resorbing osteoclasts in the presence of receptor activator for nuclear factor kappa B ligand (RANKL). Non-canonical pathways of osteoclastogenesis have been described in which several cytokines and growth factors are able to substitute for RANKL. These humoral factors can generally be divided into those which, like RANKL, are tumour necrosis family (TNF) superfamily members and those which are not; the former include TNFα lymphotoxin exhibiting inducible expression and competing with herpes simplex virus glycoprotein D for herpesvirus entry mediator, a receptor expressed by T lymphocytes (LIGHT), a proliferation inducing ligand (APRIL) and B cell activating factor (BAFF); the latter include transforming growth factor beta (TGF-β), interleukin-6 (IL-6), IL-8, IL-11, nerve growth factor (NGF), insulin-like growth factor-I (IGF-I) and IGF-II. This review summarises the evidence for these RANKL substitutes in inducing osteoclast differentiation from tissue-derived and circulating mononuclear phagocytes. It also assesses the role these factors are likely to play in promoting the pathological bone resorption seen in many inflammatory and neoplastic lesions of bone and joint including rheumatoid arthritis, aseptic implant loosening and primary and secondary tumours of bone.
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Affiliation(s)
- A Sabokbar
- The Botnar Research Centre, Institute of Musculoskeletal Sciences, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal and Clinical Laboratory Services, Nuffield Orthopaedic Centre, University of Oxford, Oxford, OX3 7LD, UK
| | - D J Mahoney
- The Botnar Research Centre, Institute of Musculoskeletal Sciences, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal and Clinical Laboratory Services, Nuffield Orthopaedic Centre, University of Oxford, Oxford, OX3 7LD, UK
| | - F Hemingway
- The Botnar Research Centre, Institute of Musculoskeletal Sciences, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal and Clinical Laboratory Services, Nuffield Orthopaedic Centre, University of Oxford, Oxford, OX3 7LD, UK
| | - N A Athanasou
- The Botnar Research Centre, Institute of Musculoskeletal Sciences, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal and Clinical Laboratory Services, Nuffield Orthopaedic Centre, University of Oxford, Oxford, OX3 7LD, UK.
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24
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Franco-Barrera MJ, Zavala-Cerna MG, Aguilar-Portillo G, Sánchez-Gomez DB, Torres-Bugarin O, Franco-Barrera MA, Roa-Encarnacion CM. Gorham-Stout Disease: a Clinical Case Report and Immunological Mechanisms in Bone Erosion. Clin Rev Allergy Immunol 2016; 52:125-132. [DOI: 10.1007/s12016-016-8594-z] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/14/2022]
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25
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Hellyer J, Oliver-Allen H, Shafiq M, Tolani A, Druzin M, Jeng M, Rockson S, Lowsky R. Pregnancy Complicated by Gorham-Stout Disease and Refractory Chylothorax. AJP Rep 2016; 6:e355-e358. [PMID: 27708981 PMCID: PMC5050042 DOI: 10.1055/s-0036-1593443] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/13/2022] Open
Abstract
Introduction Gorham-Stout Disease (GSD) is a rare disorder of bony destruction due to lymphangiomatosis, and is often triggered by hormones. One complication of GSD is the development of chylothorax, which carries a high mortality rate. Very little experience has been published to guide management in GSD during pregnancy to optimize both fetal and maternal health. Case Study A 20-year-old woman with known GSD presented with shortness of breath at 18 weeks of pregnancy, due to bilateral chylothoraces which required daily drainage. To minimize chylous fluid formation, she was placed on bowel rest with total parenteral nutrition (limiting lipid intake) and received octreotide to decrease splanchnic blood flow and chylous fluid drainage. Treatment options were limited due to her pregnancy. Twice daily home chest tube drainage of a single lung cavity, total parenteral nutrition, octreotide, and albumin infusions allowed successful delivery of a healthy 37 weeks' gestation infant by cesarean delivery. Discussion This case illustrates the management of a rare clinical disease of bone resorption and lymphangiomatosis complicated by bilateral, refractory chylothoraces, triggered by pregnancy, in whom treatment options are limited, and the need for a multidisciplinary health care team to ensure successful maternal and fetal outcomes.
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Affiliation(s)
- Jessica Hellyer
- Department of Medicine, Stanford University, Palo Alto, California
| | | | - Majid Shafiq
- Department of Medicine, Stanford University, Palo Alto, California
| | - Alisha Tolani
- Department of Medicine, Stanford University, Palo Alto, California
| | - Maurice Druzin
- Department of Pediatrics, Stanford University, Palo Alto, California; Departments of Obstetrics and Gynecology, Stanford University, Palo Alto, California
| | - Michael Jeng
- Department of Pediatrics, Stanford University, Palo Alto, California
| | - Stanley Rockson
- Division of Cardiovascular Medicine, Stanford Center for Lymphatic and Venous Disorders, Stanford University School of Medicine, Stanford, California
| | - Robert Lowsky
- Department of Medicine, Stanford University, Palo Alto, California
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26
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Gataa IS, Nader NHR, Abdallah DT. Massive Craniofacial Gorham Disease Treated Successfully by Cisplatin and 5-Fluorouracil With Ten Years of Follow-Up: A Case Report and Literature Review. J Oral Maxillofac Surg 2016; 74:1774-82. [DOI: 10.1016/j.joms.2016.03.020] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/11/2016] [Revised: 03/18/2016] [Accepted: 03/18/2016] [Indexed: 10/22/2022]
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López Peña M, Muñoz F, Alemañ N, González A, Pereira JL, Nieto JM. Hemangiomatosis Associated with Osteolysis of the Mandible in a Dog Resembling Gorham-Stout Disease in Humans. Vet Pathol 2016; 42:489-91. [PMID: 16006608 DOI: 10.1354/vp.42-4-489] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/19/2022]
Abstract
A 6-month-old female German Shepherd Dog died as a result of profuse oral bleeding. At postmortem examination, the oral cavity showed visible roots of the right mandibular fourth premolar and first molar teeth and, in addition, they were very mobile and compressible. Radiographs showed a generalized radiolucency in the body of the right mandible, with evidence of resorption of the affected alveolar bone. Histologically, the lesion of the right mandible was characterized by the lysis of bony structures and a non-malignant proliferation of blood-filled vascular spaces lined by a single layer of well-differentiated endothelial cells. The clinical, radiographic, and histologic presentation of this dog is consistent with that associated with Gorham-Stout disease, a rare bone disorder in humans.
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Affiliation(s)
- M López Peña
- Anatomía Patológica, Facultad de Veterinaria, Campus Universitario, Lugo E-27002, Spain.
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Brunner U, Rückl K, Konrads C, Rudert M, Plumhoff P. Gorham-Stout syndrome of the shoulder. SICOT J 2016; 2:25. [PMID: 27194110 PMCID: PMC4868919 DOI: 10.1051/sicotj/2016015] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/09/2016] [Accepted: 03/25/2016] [Indexed: 11/14/2022] Open
Abstract
Introduction: Gorham-Stout syndrome (GSS) is a rare but severe subtype of idiopathic osteolysis. There are no guidelines for the treatment of GSS. We analysed different diagnostic and therapeutic regimes and we describe the sucessful treatment of GSS considering individual patient factors. Methods: We diagnosed three patients with shoulder-specific GSS using clinical, radiological and histopathological examinations. Two out of three patients with similar clinical appearances were treated non-operatively. One patient was treated by reverse shoulder arthroplasty. All patients were analysed retrospectively using clinical and radiological evaluation with a mean follow-up of 42 (range 30–50) months. Results: Two patients had few symptoms of GSS and were treated conservatively. One patient underwent arthroplasty, with a good clinical result. No additional therapy, such as radiation or anti-resorptive medications, was needed for the stable fixation of the prosthesis and the termination of osteolysis. In all patients we found good clinical outcomes with high patient satisfaction. Discussion: GSS is diagnosed after exclusion of infectious, malignant, and systemic disorders. The diagnosis should be supported by clinical, radiological, and histopathological characteristics of patients. Different humoral and cellular changes have been reported in GSS, but lack sufficient supporting evidence. GSS is associated with angiomatous and lymphatic malformations. The changes in GSS and the theories of its pathophysiology may reveal.
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Affiliation(s)
- Ulrich Brunner
- Department of Orthopaedic Surgery, Koenig-Ludwig Haus, Julius-Maximilians University Wuerzburg, Brettreichstr. 11, 97074 Wuerzburg, Germany
| | - Kilian Rückl
- Department of Trauma, Shoulder and Hand Surgery, Hospital Agatharied, Norbert-Kerkel-Platz, 83734 Hausham, Germany
| | - Christian Konrads
- Department of Trauma, Shoulder and Hand Surgery, Hospital Agatharied, Norbert-Kerkel-Platz, 83734 Hausham, Germany
| | - Maximilian Rudert
- Department of Trauma, Shoulder and Hand Surgery, Hospital Agatharied, Norbert-Kerkel-Platz, 83734 Hausham, Germany
| | - Piet Plumhoff
- Department of Trauma, Shoulder and Hand Surgery, Hospital Agatharied, Norbert-Kerkel-Platz, 83734 Hausham, Germany
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Seidel B, Kupfer M. Gorham's Disease in a Patient with Traumatic Spinal Cord Injury: Case Report and Review of the Literature. Top Spinal Cord Inj Rehabil 2016; 22:79-82. [PMID: 29398896 DOI: 10.1310/sci2201-79] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
Abstract
Gorham's disease is a rare entity that has been sparsely covered in the medical literature, and its pathophysiology remains poorly understood. We present the case of a 22-year-old man who sustained a traumatic T6 American Spinal Injury Association Impairment Scale B paraplegic injury complicated by a complaint of shoulder pain during his acute rehabilitation stay. He was found to have osteolysis of the distal right clavicle (Gorham's disease). He was treated conservatively with nonsteroidal anti-inflammatory drugs and relative rest and experienced good functional outcome. Although the differential diagnosis for shoulder pain in the paraplegic patient during acute rehabilitation is extensive, it is important to consider less common but still important etiologies such as Gorham's disease.
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Affiliation(s)
- B Seidel
- Thomas Jefferson University Hospital, Department of Physical Medicine and Rehabilitation, Thomas Jefferson University, Philadelphia, Pennsylvania.,Department of Physical Medicine and Rehabilitation, Magee Rehabilitation Hospital, Philadelphia, Pennsylvania
| | - M Kupfer
- Department of Physical Medicine and Rehabilitation, Magee Rehabilitation Hospital, Philadelphia, Pennsylvania
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Personalized Therapy for Generalized Lymphatic Anomaly/Gorham-Stout Disease With a Combination of Sunitinib and Taxol. J Pediatr Hematol Oncol 2015; 37:e481-5. [PMID: 26458155 PMCID: PMC4617281 DOI: 10.1097/mph.0000000000000436] [Citation(s) in RCA: 18] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/27/2022]
Abstract
The recently revised ISSVA classification approved in Melbourne in April 2014 recognizes generalized lymphatic anomaly and lymphatic malformation in Gorham-Stout disease. The 2 entities can overlap in presentation, as both are characterized by destructive lymphatic vessel invasion of the axial skeleton and surrounding soft tissues. At least at present, no standard therapeutic options exist, and due to the rarity of the disease, no clinical trials are available. We present 2 patients, 1 with generalized lymphatic anomaly and 1 with lymphatic malformation in Gorham-Stout disease, with severe exacerbation during puberty. The first child presented in florid pulmonary failure and pleural effusion, the other with severe pain due to bone destruction of the pelvis and inability to walk. Both were treated using individualized protocols. The manuscript describes the rationale for choosing sunitinib in combination with low-dose (metronomic) taxol. Both patients experienced clinical and radiologic response without major toxicities, suggesting that patients with rare conditions may benefit from individualized, molecularly based therapies.
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Sá P, Marques P, Oliveira C, Rodrigues AS, Amorim N, Pinto R. Gorham's disease: clinical case. Rev Bras Ortop 2015; 50:239-42. [PMID: 26229923 PMCID: PMC4519563 DOI: 10.1016/j.rboe.2015.03.004] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/25/2014] [Accepted: 04/28/2014] [Indexed: 11/26/2022] Open
Abstract
Gorham's disease, also known as idiopathic massive osteolysis, is a rare pathological condition characterized by vascular proliferation that results in destruction and reabsorption of the bone matrix, of unknown etiology. It was first described by Jackson in 1838, but it was Gorham and Stout, in 1955, who defined this disease as a specific entity. It has variable clinical presentation and generally has progressive behavior. Controversy continues regarding the treatment and there is no standard treatment. This pathological condition generally presents a favorable prognosis. Here, a case of Gorham's disease with involvement of the left hip is presented, in a male patient without relevant antecedents.
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Affiliation(s)
- Pedro Sá
- Unidade Local de Saúde Alto Minho, Viana do Castelo, Portugal
| | - Pedro Marques
- Unidade Local de Saúde Alto Minho, Viana do Castelo, Portugal
| | | | | | | | - Rui Pinto
- Centro Hospitalar São João, Porto, Portugal
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Total Joint Replacement for Severe Bilateral Condylar Resorption—Gorham-Stout Syndrome. J Craniofac Surg 2015; 26:e302-5. [DOI: 10.1097/scs.0000000000001671] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/26/2022] Open
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Saify FY, Gosavi SR. Gorham's disease: A diagnostic challenge. J Oral Maxillofac Pathol 2015; 18:411-4. [PMID: 25948997 PMCID: PMC4409187 DOI: 10.4103/0973-029x.151333] [Citation(s) in RCA: 18] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/01/2014] [Accepted: 01/01/2015] [Indexed: 01/09/2023] Open
Abstract
Gorham's disease is a rare disorder of uncertain etiology characterized by spontaneous and progressive osteolysis of one or more skeletal bones. Till date, less than 200 cases have been reported in the international literature with about 51 cases involving the maxillofacial site. The radiographic findings associated with Gorham's disease are particularly dramatic, as in some cases a complete resorption of the involved bone can occur, leading to the definition of phantom bone or disappearing bone disease. The purpose of this review is to make our community aware of this rare entity and to discuss the etiopathology, clinical presentation, radiographic findings, histopathology, differential diagnoses and treatment modalities for patients with vanishing bone disease.
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Affiliation(s)
- Fatema Y Saify
- Department of Oral Pathology, Government Dental College, Raipur, Chhattisgarh, India
| | - Suchitra R Gosavi
- Department of Oral Pathology, Government Dental College, Nagpur, Maharashtra, India
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Sá P, Marques P, Oliveira C, Rodrigues AS, Amorim N, Pinto R. Doença de Gorham: caso clínico. Rev Bras Ortop 2015. [DOI: 10.1016/j.rbo.2014.04.007] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/29/2022] Open
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Gulati U, Mohanty S, Dabas J, Chandra N. "Vanishing Bone Disease" in Maxillofacial Region: A Review and Our Experience. J Maxillofac Oral Surg 2015. [PMID: 26225043 DOI: 10.1007/s12663-015-0746-9] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/24/2022] Open
Abstract
Vanishing bone disease (VBD) is a rare disease of unknown etiology which is characterised by progressive replacement of bony framework by proliferation of endothelial lined lymphatic vessels. It has been given numerous names like massive osteolysis, Gorham's disease, phantom bone disease, and progressive osteolysis. It has no age, sex or race predilection. It may involve single or multiple bones and spread of the disease does not respect the relevant joint as boundary. The first report of the disease was published around two decades back but the mysterious nature of its etiology and ideal management strategy has still not been completely unfolded. The disease may functionally or aesthetically effect the patient and also has the potential to be life threatening. The first case of VBD in maxillofacial region was reported by Romer in 1924, Handbuch der speziellen pathologischen Anatomie and histology, Springer, Berlin. Since then, there have been few case reports of the same in maxillofacial region. We present a review of cases of VBD in maxillofacial region reported in literature along with our experience of a case.
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Affiliation(s)
- Ujjwal Gulati
- Flt. Lt. Rajan Dhall Fortis Hospital, Vasant Kunj, New Delhi, India
| | - Sujata Mohanty
- Department of Oral and Maxillofacial Surgery, Maulana Azad Institute of Dental Sciences, New Delhi, India
| | - Jitender Dabas
- Department of Oral and Maxillofacial Surgery, Maulana Azad Institute of Dental Sciences, New Delhi, India
| | - Nidhee Chandra
- Pathology Consultancy Services, B-6, Sector 27, Noida, 201301 Uttar Pradesh India
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Nikolaou VS, Chytas D, Korres D, Efstathopoulos N. Vanishing bone disease (Gorham-Stout syndrome): A review of a rare entity. World J Orthop 2014; 5:694-698. [PMID: 25405099 PMCID: PMC4133478 DOI: 10.5312/wjo.v5.i5.694] [Citation(s) in RCA: 76] [Impact Index Per Article: 6.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/11/2014] [Revised: 03/30/2014] [Accepted: 05/31/2014] [Indexed: 02/06/2023] Open
Abstract
Vanishing bone disease (Gorham-Stout syndrome) is a rare entity of unknown etiology, characterized by destruction of osseous matrix and proliferation of vascular structures, resulting in destruction and absorption of bone. Despite the extensive investigation of the pathogenetic mechanisms of the disease, its etiology hasn't been clarified and several theories exist. The syndrome can affect one or multiple bones of the patient, including the skull, the upper and lower extremities, the spine and pelvis. The clinical presentation of a patient suffering from vanishing bone disease includes, pain, functional impairment and swelling of the affected region, although asymptomatic cases have been reported, as well as cases in which the diagnosis was made after a pathologic fracture. In this short review we summarize the theories regarding the etiology as well as the clinical presentation, the diagnostic approach and treatment options of this rare disease.
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Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders. BIOMED RESEARCH INTERNATIONAL 2014; 2014:670842. [PMID: 25530967 PMCID: PMC4230237 DOI: 10.1155/2014/670842] [Citation(s) in RCA: 26] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 02/28/2014] [Revised: 08/12/2014] [Accepted: 08/24/2014] [Indexed: 12/21/2022]
Abstract
A rare disease afflicts less than 200,000 individuals, according to the National Organization for Rare Diseases (NORD) of the United States. Over 6,000 rare disorders affect approximately 1 in 10 Americans. Rare genetic bone disorders remain the major causes of disability in US patients. These rare bone disorders also represent a therapeutic challenge for clinicians, due to lack of understanding of underlying mechanisms. This systematic review explored current literature on therapeutic directions for the following rare genetic bone disorders: fibrous dysplasia, Gorham-Stout syndrome, fibrodysplasia ossificans progressiva, melorheostosis, multiple hereditary exostosis, osteogenesis imperfecta, craniometaphyseal dysplasia, achondroplasia, and hypophosphatasia. The disease mechanisms of Gorham-Stout disease, melorheostosis, and multiple hereditary exostosis are not fully elucidated. Inhibitors of the ACVR1/ALK2 pathway may serve as possible therapeutic intervention for FOP. The use of bisphosphonates and IL-6 inhibitors has been explored to be useful in the treatment of fibrous dysplasia, but more research is warranted. Cell therapy, bisphosphonate polytherapy, and human growth hormone may avert the pathology in osteogenesis imperfecta, but further studies are needed. There are still no current effective treatments for these bone disorders; however, significant promising advances in therapeutic modalities were developed that will limit patient suffering and treat their skeletal disabilities.
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Suero Molina EJ, Niederstadt T, Ruland V, Kayser G, Stummer W, Ewelt C, Rössler J. Cerebrospinal fluid leakage in Gorham-Stout disease due to dura mater involvement after progression of an osteolytic lesion in the thoracic spine. J Neurosurg Spine 2014; 21:956-60. [PMID: 25325172 DOI: 10.3171/2014.8.spine131064] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/06/2022]
Abstract
Patients with Gorham-Stout disease (GSD), a rare disease of poorly understood etiopathophysiology, suffer from progressive osteolysis. Destruction of bone matrix is caused by lymphatic vessels, which can lead to CSF leakage if parts of bony structures adjacent to CSF spaces are involved. So far, fewer than 200 patients have been reported in the literature; only 4 of these patients presented with CSF leakage. The authors report the case of a 30-year-old man with GSD and CSF leakage due to dura mater involvement after progression of an osteolytic lesion in the thoracic spine. Neurosurgical intervention, including dura repair, was needed. Experimental medical therapy with rapamycin was started, leading to disease control for more than 12 months. Progression of GSD can lead to destruction of the meninges, causing CSF leakage. The authors review 4 other cases reported in the literature and discuss therapeutic options.
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Findler M, Hirshberg A, Sharon E. Lymphangiomatosis with dental involvement. Lymphat Res Biol 2014; 13:62-5. [PMID: 25192473 DOI: 10.1089/lrb.2013.0040] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/12/2022] Open
Abstract
BACKGROUND Lymphangiomatosis characterized by lymphangiomatous proliferation is a rare disease of unknown etiology, which seems to be more aggressive than Gorham-Stout Syndrome, also known as "the vanished bone disease." METHODS AND RESULTS A woman presented with a lytic lesion in the tibia and multiple lytic lesions in teeth dentin. Upon autopsy, a single lytic bone lesion and fulminant lymphangiomatous proliferation were found in the pleura, pericardium, and peritoneum. The histological findings from a tooth lytic lesion included fibroblastic proliferation interspersed with vascular spaces embedded with fragments of lamellar bone and dentin containing osteoclast like multinucleated giant-cell lined resorption bays. CONCLUSIONS The histological findings support the notion that hard tissue resorption is conducted by lymphangiomatosis and osteoclastic activity.
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Affiliation(s)
- Mordechai Findler
- 1 Department of Hospital Oral Medicine, Hebrew University Hadassah , Faculty of Dental Medicine, Hebrew University, Jerusalem, Israel
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40
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Dellinger MT, Garg N, Olsen BR. Viewpoints on vessels and vanishing bones in Gorham-Stout disease. Bone 2014; 63:47-52. [PMID: 24583233 DOI: 10.1016/j.bone.2014.02.011] [Citation(s) in RCA: 117] [Impact Index Per Article: 10.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/20/2013] [Revised: 01/06/2014] [Accepted: 02/19/2014] [Indexed: 12/11/2022]
Abstract
Gorham-Stout disease (GSD) is a rare disorder characterized by the proliferation of endothelial-lined vessels in bone and the progressive destruction of bone. Although Jackson described the first case of GSD in 1838, the clinical and histological features of GSD were not defined until Gorham and Stout published their report on massive osteolysis in 1955. In the years since Gorham and Stout's groundbreaking publication, more than 300 cases of GSD have been described in the literature. These reports have revealed that the progressive resorption of bone in GSD causes severe physical deformities, disabilities, and life-threatening complications. Unfortunately, the underlying cause of GSD remains unknown and, as a result, the therapeutic options for individuals with GSD are limited. Here we review the latest advances in GSD research and present strategies to address basic and clinical research questions related to GSD.
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Affiliation(s)
- Michael T Dellinger
- Division of Surgical Oncology, Department of Surgery, University of Texas Southwestern Medical Center, Dallas, TX, USA; The Lymphatic Malformation Institute, Bethesda, MD, USA.
| | - Nupur Garg
- The Lymphatic Malformation Institute, Bethesda, MD, USA
| | - Bjorn R Olsen
- Department of Developmental Biology, Harvard School of Dental Medicine, Boston, MA, USA.
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Foster BL, Ramnitz MS, Gafni RI, Burke AB, Boyce AM, Lee JS, Wright JT, Akintoye SO, Somerman MJ, Collins MT. Rare bone diseases and their dental, oral, and craniofacial manifestations. J Dent Res 2014; 93:7S-19S. [PMID: 24700690 DOI: 10.1177/0022034514529150] [Citation(s) in RCA: 93] [Impact Index Per Article: 8.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/01/2023] Open
Abstract
Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. Though many of these conditions are individually rare, the total number of people affected is great. These disorders often include dental-oral-craniofacial (DOC) manifestations, but the combination of the rarity and lack of in-depth reporting often limit our understanding and ability to diagnose and treat affected individuals. In this review, we focus on dental, oral, and craniofacial manifestations of rare bone diseases. Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease). For each condition, we highlight causative mutations (when known), etiopathology in the skeleton and DOC complex, and treatments. By understanding how these 4 foci are subverted to cause disease, we aim to improve the identification of genetic, molecular, and/or biologic causes, diagnoses, and treatment of these and other rare bone conditions that may share underlying mechanisms of disease.
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Affiliation(s)
- B L Foster
- National Institute for Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
| | - M S Ramnitz
- National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
| | - R I Gafni
- Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA
| | - A B Burke
- Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA
| | - A M Boyce
- Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA Bone Health Program, Division of Orthopedics and Sports Medicine, Children's National Medical Center, Washington, DC, USA Division of Endocrinology and Diabetes, Children's National Medical Center, Washington, DC, USA
| | - J S Lee
- Office of Clinical Director, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA
| | - J T Wright
- Department of Pediatric Dentistry, School of Dentistry, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA
| | - S O Akintoye
- Department of Oral Medicine, School of Dental Medicine, University of Pennsylvania, Philadelphia, PA, USA
| | - M J Somerman
- National Institute for Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA
| | - M T Collins
- Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA
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Nir V, Guralnik L, Livnat G, Bar-Yoseph R, Hakim F, Ilivitzki A, Bentur L. Propranolol as a treatment option in Gorham-Stout syndrome: a case report. Pediatr Pulmonol 2014; 49:417-9. [PMID: 24000203 DOI: 10.1002/ppul.22869] [Citation(s) in RCA: 20] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/29/2013] [Accepted: 06/29/2013] [Indexed: 11/10/2022]
Abstract
Gorham-Stout syndrome is a very rare syndrome characterized by progressive angiomatosis and lymphangiomas involving multiple organs. We describe herein a girl with progressive Gorham-Stout syndrome since the age of 13 years. Her disease involved the mediastinum, pericardium, vertebrae, ribs, and skull and did not respond to interferon and bisphosphonates. Propranolol administration was initiated at the age of 18 years and was associated with improvement in pulmonary function tests and involution of the mediastinal and hilar hemangiomatous lesions. The possible beneficial effect of propranolol in Gorham-Stout syndrome should be further investigated.
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Affiliation(s)
- Vered Nir
- Pediatric Pulmonary Unit, Meyer Children's Hospital, Rambam Health Care Campus, Israel; Pediatric Department, Hillel Yaffe Medical Center, Hadera, Israel
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Hu P, Yuan XG, Hu XY, Shen FR, Wang JA. Gorham-Stout syndrome in mainland China: a case series of 67 patients and review of the literature. J Zhejiang Univ Sci B 2014; 14:729-35. [PMID: 23897792 DOI: 10.1631/jzus.b1200308] [Citation(s) in RCA: 42] [Impact Index Per Article: 3.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/20/2023]
Abstract
OBJECTIVE Gorham-Stout syndrome (GSS) is a rare disorder of uncertain etiology and unpredictable prognosis. This study aims to present a comprehensive understanding of this rare entity. METHODS A literature search in PubMed and three Chinese databases was performed to screen histologically proven GSS cases among Chinese residents in the mainland. We analyzed the patients' clinical characteristics, the value of different treatment modalities and their influence on the clinical outcome. RESULTS Sixty-seven cases were finally enrolled. There were 43 men (64.2%) and 24 women (35.8%). The mean age at diagnosis was 28 years (1.5-71 years). The most common clinical symptoms included pain (n=40, 59.7%), functional impairment (n=13, 19.4%), and swelling (n=12, 17.9%). The radiographic presentation of 37 cases (55.2%) was disappearance of a portion of the bone. The others presented as radiolucent foci in the intramedullary or subcortical regions. A total of 42 cases provided data on therapy, these included surgery (n=27, 40.3%), radiation therapy (n=6, 9.0%), surgery combined with radiation therapy (n=2, 3.0%), and medicine therapy (n=7, 10.4%). For 30 of these 42 cases, follow-up data were available: 21 cases had the disorder locally controlled and 9 had a symptom progression. Fortunately, the disease is not fatal in the majority of cases. CONCLUSIONS GSS has no specific symptoms and it should be taken into consideration when an unclear massive osteolysis occurs. The efficacies of different treatment modalities are still unpredictable and further research is required to assess the values of different treatments.
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Affiliation(s)
- Po Hu
- Cardiovascular Key Lab of Zhejiang Province, Department of Cardiology, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, China.
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Scheller K, Herrmann-Trost P, Diesel L, Busse C, Heinzelmann C. Unspecific, idiopathic isolated osteolysis (Gorham-Stout syndrome) of the mandibular condylar process with its radiological, histological and clinical features: a case report and review of literature. Oral Maxillofac Surg 2014; 18:75-79. [PMID: 23378037 DOI: 10.1007/s10006-013-0394-5] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/01/2012] [Accepted: 01/16/2013] [Indexed: 06/01/2023]
Abstract
BACKGROUND The unspecific, idiopathic isolated osteolysis is a rare condition in the various known osteopathies and better known as Gorham-Stout syndrome (Gorham's disease, GD). It belongs to the primary idiopathic osteolysis, and its aetiology is poorly understood. Many different localisations have been described, but there are only 48 cases affecting the maxillofacial region until now. CASE REPORT A 76-year-old patient with the singular localisation of GD in the left condylar process is presented. After radical resection of the condylar process, the clinical, radiological and pathological examinations made the diagnosis of GD. Until now, there is no recurrence for two and a half years. DISCUSSION The unspecific and inconsistent clinical and radiological symptoms complicate the diagnosis of GD. Clinical, pathological and radiological correlation is essential to make the diagnosis. The different therapeutical options and the specific outcome are discussed.
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Affiliation(s)
- Konstanze Scheller
- Department of Oral and Maxillofacial Surgery and Facial Plastic Surgery, Martin-Luther University Halle-Wittenberg, Ernst-Grube-Strasse 40, 06120, Halle, Germany,
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Choi BS, Hong SJ, Chu MA, Lee SJ, Lee JM, Bae HI, Choe BH. Gastrointestinal Tract Involvement of Gorham's Disease with Expression of D2-40 in Duodenum. Pediatr Gastroenterol Hepatol Nutr 2014; 17:52-56. [PMID: 24749089 PMCID: PMC3990784 DOI: 10.5223/pghn.2014.17.1.52] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/07/2014] [Revised: 03/09/2014] [Accepted: 03/17/2014] [Indexed: 11/20/2022] Open
Abstract
We present a case of a 13-year-old boy with Gorham's disease involving the thoracic and lumbar spine, femur, and gastrointestinal (GI) tract, which was complicated by recurrent chylothorax and GI bleeding. The presenting symptoms were intermittent abdominal pain, back pain, and melena. Esophagogastroduodenoscopy and colonoscopy showed no abnormal lesions, but duodenal biopsy showed marked dilation of the lymphatics in the mucosa and submucosa, which revealed positive staining with a D2-40 immunohistochemical marker. In cases of GI bleeding with osteolysis, the expression of a D2-40 marker in the lymphatic endothelium of the GI tract may help to diagnose GI involvement in Gorham's disease. To the best of our knowledge, this is the first case report to pathologically demonstrate intestinal lymphatic malformation as a cause of GI bleeding in Gorham's disease.
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Affiliation(s)
- Bong Seok Choi
- Department of Pediatrics, Kyungpook National University School of Medicine, Daegu, Korea
| | - Suk Jin Hong
- Department of Pediatrics, Kyungpook National University School of Medicine, Daegu, Korea
| | - Mi Ae Chu
- Department of Pediatrics, Kyungpook National University School of Medicine, Daegu, Korea
| | - Seok Jong Lee
- Department of Dermatology, Kyungpook National University School of Medicine, Daegu, Korea
| | - Jong-Min Lee
- Department of Radiology, Kyungpook National University School of Medicine, Daegu, Korea
| | - Han Ik Bae
- Department of Pathology, Kyungpook National University School of Medicine, Daegu, Korea
| | - Byung-Ho Choe
- Department of Pediatrics, Kyungpook National University School of Medicine, Daegu, Korea
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Hagendoorn J, Yock TI, Rinkes IHB, Padera TP, Ebb DH. Novel molecular pathways in Gorham disease: implications for treatment. Pediatr Blood Cancer 2014; 61:401-6. [PMID: 24214028 PMCID: PMC4123459 DOI: 10.1002/pbc.24832] [Citation(s) in RCA: 25] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/21/2013] [Accepted: 09/27/2013] [Indexed: 12/17/2022]
Abstract
Rapid advances in evidence-based treatment schedules are a hallmark of modern oncology. In rare neoplastic diseases, however, clinical expertise is hard to build and evidence based on randomized trials almost impossible to collect. Gorham disease is a rare form of lymphatic proliferation accompanied by osteolysis, which usually occurs in young adults. Despite the fact that the clinical course of Gorham disease is often devastating and occasionally fatal, insights into its biological background are sparse and standardized treatment unavailable. Interestingly, recent knowledge on the mechanisms of lymphangiogenesis may help elucidate the pathophysiology of Gorham disease and lead to novel treatment targets. Here, we discuss our current understanding of Gorham disease, discuss established and emerging therapeutic strategies, and attempt to frame a treatment rationale.
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Affiliation(s)
- Jeroen Hagendoorn
- Department of Surgical Oncology, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands
| | - Torunn I. Yock
- Department of Radiation Oncology, Massachusetts General Hospital and Harvard Medical School, 55 Fruit Street, Boston, MA 02114, United States
| | - Inne H.M. Borel Rinkes
- Department of Surgical Oncology, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands
| | - Timothy P. Padera
- Edwin L. Steele Laboratory for Tumor Biology, Massachusetts General Hospital and Harvard Medical School, 55 Fruit Street, Boston, MA 02114, United States
| | - David H. Ebb
- Department of Pediatric Hematology and Oncology, Massachusetts General Hospital and Harvard Medical School, 55 Fruit Street, Boston, MA 02114, United States
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Tavakoli Darestani R, Sharifzadeh A, Bagherian Lemraski M, Farhang Zanganeh R. A Rare Case of Gorham's Disease: Primary Ulnar Involvement with Secondary Spread to the Radius and Elbow. Trauma Mon 2013; 18:41-5. [PMID: 24350149 PMCID: PMC3860655 DOI: 10.5812/traumamon.9905] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/23/2012] [Revised: 02/12/2013] [Accepted: 03/17/2013] [Indexed: 11/20/2022] Open
Abstract
Introduction Gorham’s disease is a rare musculoskeletal disease which causes progressive osteolysis and is characterized by massive bone destruction due to proliferation of vascular elements along with a great number of osteoclasts. The etiology of the disease is unknown. Gorham’s disease is essentially rare in the forearm bones. As far as we know, only 2 cases of Gorham’s disease of the forearm have been reported with 1 of them in the radius and the other starting in the radius and spreading to the lower portion of the humerus. Case Presentation This case report shows that Gorham’s disease may affect the ulna primarily and spread to adjacent bones despite the fact that there are no such reports in the literature. Conclusions Gorham’s disease has several manifestations as primary bone involvement. As in this rare case the ulna may be affected first and then the disease may spread to adjacent bones. More studies are needed to better recognize the behavior of this rare disease.
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Affiliation(s)
- Reza Tavakoli Darestani
- Department of Orthopedics, Imam Hossein Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran
- Corresponding author: Reza Tavakoli Darestani, Department of Orthopedics, Imam Hossein Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran. Tel.: +98-2177558081, Fax: +98-2177557069, E-mail:
| | - Amir Sharifzadeh
- Department of Orthopedics, Imam Hossein Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran
| | | | - Ramin Farhang Zanganeh
- Department of Orthopedics, Imam Hossein Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran
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Asha ML, Jose AA, Babshet M, Bajoria AA, Naveen S. Vanishing bone disease of the mandible - a case report. Gerodontology 2013; 30:296-302. [DOI: 10.1111/ger.12054] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 03/27/2013] [Indexed: 11/25/2022]
Affiliation(s)
- Mysore L. Asha
- Department of Oral Medicine and Radiology; Sri Hasanamba Dental College and Hospital; Hassan India
| | - Anju Anu Jose
- Department of Oral Medicine and Radiology; Sri Hasanamba Dental College and Hospital; Hassan India
| | - Medha Babshet
- Department of Oral Medicine and Radiology; Sri Hasanamba Dental College and Hospital; Hassan India
| | - Atul Anand Bajoria
- Department of Oral Medicine and Radiology; Sri Hasanamba Dental College and Hospital; Hassan India
| | - Srinivas Naveen
- Department of Oral Medicine and Radiology; Sri Hasanamba Dental College and Hospital; Hassan India
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Boffano P, Roccia F, Gallesio C, Berrone S. Pathological mandibular fractures: a review of the literature of the last two decades. Dent Traumatol 2013; 29:185-196. [PMID: 23294978 DOI: 10.1111/edt.12028] [Citation(s) in RCA: 37] [Impact Index Per Article: 3.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 11/30/2012] [Indexed: 12/17/2022]
Abstract
Pathological mandibular fractures are rare, accounting for fewer than 2% of all fractures of the mandible. They could be defined as fractures that occur in regions where bone has been weakened by an underlying pathological process. Pathological fractures usually may follow surgical interventions such as third molar removal or implant placement, result from regions of osteomyelitis, osteoradionecrosis, and bisphosphonate-related osteonecrosis of the jaw, occur because of idiopathic reasons or be facilitated by cystic lesions, benign, malignant, or metastatic tumors. Pathological mandibular fractures may be challenging to treat because of their different etiology and peculiar local and general conditions, often requiring a more rigid fixation. In patients with poor medical conditions, simpler and more limited options may be preferred.
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Affiliation(s)
- Paolo Boffano
- Division of Maxillofacial Surgery, Head and Neck Department, San Giovanni Battista Hospital, University of Turin, Turin, Italy.
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Liu CY, Yen CC, Su KC, Wu YC. Gorham's Disease complicated with bilateral chylothorax and successfully treated with Interferon-alpha-2a. Thorac Cancer 2013; 4:207-211. [PMID: 28920203 DOI: 10.1111/j.1759-7714.2012.00154.x] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/30/2022] Open
Abstract
Gorham's disease (GD) is rare and characterized by non-neoplastic lymphovascular proliferation and massive osteolysis. Its clinical course is usually protracted, but sometimes life threatening when vital structures are involved or when complicated with chylothorax. There is no optimal treatment guideline for GD complicated with chylothorax. Surgical ligation of thoracic duct, pleurectomy, pleurodesis, interferon-alpha-2b, and radiotherapy, are reported to manage chylothorax. We present the case of a 32-year-old man with Gorham's disease complicated by bilateral chylothorax, which was refractory to radiotherapy but remitted dramatically two weeks after interferon-alpha-2a therapy. The patient was free of relapse four months after discontinuing four-month interferon therapy. To date, only 11 cases (including ours) of GD with chylothorax have received interferon as single or salvage therapy, and 10 of them survived. Early intervention with interferon therapy can be considered as an effective treatment for GD complicated with bilateral chylothorax.
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Affiliation(s)
- Chao-Yu Liu
- Division of Thoracic Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, TaiwanDivision of Hematology and Oncology, Department of Medicine, Taipei Veterans General Hospital, Taipei, TaiwanSchool of Medicine, National Yang-Ming University, Taipei, TaiwanDivision of Clinical Respiratory Physiology, Department of Chest Medicine, Taipei Veterans General Hospital, Taipei, Taiwan
| | - Chueh-Chuan Yen
- Division of Thoracic Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, TaiwanDivision of Hematology and Oncology, Department of Medicine, Taipei Veterans General Hospital, Taipei, TaiwanSchool of Medicine, National Yang-Ming University, Taipei, TaiwanDivision of Clinical Respiratory Physiology, Department of Chest Medicine, Taipei Veterans General Hospital, Taipei, Taiwan
| | - Kang-Cheng Su
- Division of Thoracic Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, TaiwanDivision of Hematology and Oncology, Department of Medicine, Taipei Veterans General Hospital, Taipei, TaiwanSchool of Medicine, National Yang-Ming University, Taipei, TaiwanDivision of Clinical Respiratory Physiology, Department of Chest Medicine, Taipei Veterans General Hospital, Taipei, Taiwan
| | - Yu-Chung Wu
- Division of Thoracic Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, TaiwanDivision of Hematology and Oncology, Department of Medicine, Taipei Veterans General Hospital, Taipei, TaiwanSchool of Medicine, National Yang-Ming University, Taipei, TaiwanDivision of Clinical Respiratory Physiology, Department of Chest Medicine, Taipei Veterans General Hospital, Taipei, Taiwan
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