Periodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of barrier function. This review summarizes our current knowledge on genetic risk factors implicated in periodontitis, derived (i) from hypothesis-free systematic whole genome-profiling studies (genome-wide association studies [GWAS] and quantitative trait loci [QTL] mapping studies), and independently validated through further unbiased approaches; (ii) from monogenic and oligogenic forms of periodontitis; and (iii) from syndromic forms of periodontitis. The genes include, but are not limited to, SIGLEC5, PLG, ROBO2, ABCA1, PF4, and CTSC. Notably, CTSC and PLG gene mutations were also identified in non-syndromic and syndromic forms of prepubertal and early-onset periodontitis. The functions of the identified genes in this review suggest that the pathways affected by the periodontitis-associated gene variants converge in functions involved in the maintenance and repair of structural integrity of the periodontal tissues. Particularly, these genes play a role in the healing of inflamed and ulcerated periodontal tissues, including roles in fibrinolysis, extrusion of cellular debris, extracellular matrix remodeling and angiogenesis. Syndromes that include periodontitis in their phenotype indicate that neutrophils play an important role in the regulation of inflammation in the periodontium. The established genetic susceptibility genes therefore collectively provide new insights into the molecular mechanisms and plausible causal factors underlying periodontitis.

McArdle's disease is a severe glycogen storage disease characterized by intolerance to exercise; patients have a syndrome of muscle intolerance to stress, associated with myalgia, cramps, fatigue, and muscle weakness. Periodontal disease is a multifactorial pathology of the supporting tissues of the teeth: one of the main factors is the formation of bacterial biofilm; its control favors the prevention and the maintenance of good health of the oral cavity; and some systemic pathologies can worsen the periodontal disease and hinder its therapy. This case report concerns a woman with McArdle's disease diagnosed with periodontal disease. Material and Methods. A 54-year-old female patient with McArdle's disease has been diagnosed with Stage 3 generalized periodontitis, Grade B. At the baseline, the patient had 82 pockets with probing pocket depth (PPD) equal to or greater than 4 mm. The patient was instructed in the correct methods of oral hygiene and was advised toothpaste and mouthwash based on probiotics; subsequently, a debridement was performed to remove etiological factors using Dental-Biofilm Detection Topographic Technique (D-BioTECH).

After 60 days, the number of pockets was reduced from 82 to 14 overall with PPD ≥ 4 mm and from 50 to 2 pockets with PPD ≥ 5 mm. Full mouth bleeding score (FMBS) increased from 48% to 15% and full mouth plaque score (FMPS) from 73% to 15%.

In this case, the use of a correct brushing method combined with the D-BioTECH has reduced the disease state, with the use of probiotics at home to restore and maintain a healthy oral microbiome.

The management of paediatric patients with inborn errors of metabolism (IEM) presents an unparalleled challenge for paediatric dentists owing to the multiplex of interrelated dental manifestations and metabolic management necessitating modifications to dental care. Inborn errors of metabolism describe a largely heterogenous group of genetic disorders namely attributable to a single gene defect essential for a specific metabolic pathway. Approximately 400 disorders have been described with an overall incidence of 1 in 5000 live births worldwide. Clinical presentation is classically inconspicuous and insidious in the neonatal period with pathophysiology attributable to accumulation of toxic by-products which interfere with normal function, or insufficient synthesis of essential compounds. This paper aims to discuss the primary oral and maxillofacial manifestations across the scope of inborn errors of metabolism, whilst also considering how metabolic treatment has the propensity to complicate dental management.

Glycogen storage diseases (GSD) are genetic metabolic disorders of glycogen metabolism. There are >15 types based on the enzyme deficiency and the affected organ. Glycogen storage disease Type Ib is the only type associated with neutropenia and periodontitis. This type is caused by a deficiency of glucose-6-phosphate (G6P) translocase which prevents the transport of G6P across the endoplasmic reticulum. As a result, glycogen cannot be metabolized into glucose with its subsequent accumulation in tissues. The affected organs involved in Type Ib are the liver, kidney, and intestine.

A 5-year-old Jordanian boy from a consanguineous family referred to the periodontal clinic in February 2014 with an established diagnosis of GSD-Ib. The systemic manifestations include hepatomegaly, hypoglycemia, hyperprolactenemia, inflammatory bowel disease, osteoporosis, and neutropenia. Oral manifestations include severe gingival inflammation and recurrent oral ulceration disease.

The clinical signs and symptoms of periodontal disease in GSD Type Ib are similar to those found in patients diagnosed with neutropenia. Future studies are needed to clarify whether severe generalized inflammation of the gingiva in children is part of the GSD Type Ib or is a separate entity caused by neutrophil dysfunction.

Dental agenesis is the congenital absence of a variable number of teeth due to the lack of formation of the corresponding tooth germ. The aim of this work was to investigate the syndromic conditions characterized by dental agenesis.

Based on the research conducted through the OMIM® (Online Mendelian Inheritance in Man) and PubMed online databases, more than ninety syndromes associated with severe or moderate agenesis have been found.

The main clinical features of these syndromes are described, especially those concerning the stomatognathic apparatus, referring to the most recent literature. Among these syndromes there are three clinical conditions associated with dental agenesis that are common for the clinician: Down Syndrome, ectodermal dysplasia and labio-palatal cleft.

It must be kept in mind that the success of the treatment of these patients is based on the compliance of the patient as well as on the collaboration among specialists.