Oral Manifestations of Ehlers-Danlos Syndrome in a Family: a Case Report

Abstract

Ehlers-Danlos syndrome is a hereditary disorder characterized by defective collagen synthesis. Ehlers-Danlos type VIII is autosomal dominant and is distinguished from other subtypes by severe periodontitis leading to premature loss of teeth. A 4-member family diagnosed with Ehlers-Danlos syndrome type VIII was referred from the genetic department for oral evaluation. A 30-year-old woman reported early tooth loss. Her 26- and 27-year-old brothers and her 5-year-old daughter reported tooth loss, gingival bleeding, and dental mobility. Extraoral examination revealed a small face, hypermobile joints, and hyperpigmented atrophic scars on the arms, legs, and feet in all the members. An intraoral examination of the woman revealed absence of all teeth and severe bone loss. The brothers had severe periodontal disease, with bone loss and absence of many teeth, and the daughter showed bone loss in the deciduous teeth, with root exposition. They underwent periodontal treatment, prosthetic rehabilitation, and multidisciplinary monitoring.