A rare case of Ehler–Danlos syndrome with literature review

Abstract

The Ehlers–Danlos syndrome (EDS), “rubber man disease” comprises of a group of generalized connective tissue disorders, which is characterized by fragile skin, skin hyper extensibility, and joint hypermobility. More than 10 types of EDS have been identified based on genetic and biochemical studies. In the majority of patients with molecularly characterized as classic EDS (Type I and Type II), the disease is caused by a mutation leading to a non-functional COL5A1 allele and resulting in haplo-insufficiency of Type V collagen. Most mutations identified so far result in a reduced amount of the Type V collagen in the connective tissues available for collagen fibrillogenesis. Inter and intra-familial phenotypic variability are observed, but no specific genotype-phenotype correlations have been observed. No specific treatment protocol for the underlying defect is presently available for EDS. However, there are a series of preventive guidelines applicable. Periodontal disorders, increased bleeding tendency, delayed eruption of teeth and joint subluxation are few concerns during dental management of such patients. This case report discusses the features of classic EDS presented in a 7-year-old female patient and reviews the recent literature.