臨床および実験皮膚科学研究ジャーナル
オープンアクセス

概要

A Case Report of Ehlers-Danlos and Goldenhar Syndromes

Preawphan Punyaratabandhu, Leena Chularojanamontri, Chanin Limwongse and Saroj Suvanasuthi

A 23- year-old Thai female presented with skin laxity and delayed wound healing. Physical examination revealed asymmetry of face and hypertelorism of both eyes. Microtia of right ear, right periauricular pit, multiple fish mouth and cigarette paper scars were found. There were hyperextension of elbows and knees, 10 degrees and 15 degrees, respectively, Passive hyperflexion of the 5th finger more than 90 degrees was demonstrated. According to Villefranche’s criteria, she had all major criteria for the diagnosis of Ehlers-Danlos syndrome, classic type. She also had hemifacial microsomia and ocular abnormalities that were compatible with Goldenhar syndrome. To our knowledge, a case of Ehlers-Danlos syndrome associated with Goldenhar syndrome has never been reported. This article presents the case of co-incidence of these two rare syndromes.