Published online Dec 7, 2014. doi: 10.3748/wjg.v20.i45.17254
Revised: April 21, 2014
Accepted: July 24, 2014
Published online: December 7, 2014
Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by multiple venous malformations and hemangiomas in the skin and visceral organs. The lesions often involve the cutaneous and gastrointestinal systems. Other organs can also be involved, such as the central nervous system, liver, and muscles. The most common symptoms are gastrointestinal bleeding and secondary iron deficiency anemia. The syndrome may also present with severe complications such as rupture, intestinal torsion, and intussusception, and can even cause death. Cutaneous malformations are usually asymptomatic and do not require treatment. The treatment of gastrointestinal lesions is determined by the extent of intestinal involvement and severity of the disease. Most patients respond to supportive therapy, such as iron supplementation and blood transfusion. For more significant hemorrhages or severe complications, surgical resection, endoscopic sclerosis, and laser photocoagulation have been proposed. Here we present a case of BRBNS in a 45-year-old woman involving 16 sites including the scalp, eyelid, orbit, lip, tongue, face, back, upper and lower limbs, buttocks, root of neck, clavicle area, superior mediastinum, glottis, esophagus, colon, and anus, with secondary severe anemia. In addition, we summarize the epidemiology, clinical manifestations, diagnosis, differential diagnosis and therapies of this disease by analyzing all previously reported cases to enhance the awareness of this syndrome.
Core tip: We present a case of blue rubber bleb nevus syndrome (BRBNS). This is the 12th Chinese patient and the first female from the Chinese Mainland reported in the English literature. BRBNS is a rare disease characterized by multiple venous malformations and hemangiomas in the skin and visceral organs. The most common symptoms are gastrointestinal bleeding and secondary iron deficiency anemia. We summarize the epidemiology, clinical manifestations, diagnosis, differential diagnosis and therapies of the disease. In a patient with gastrointestinal bleeding and multiple hemangiomas, a diagnosis of BRBNS should be considered and a systemic examination is necessary. An early diagnosis will improve the patient’s quality of life.