Article
Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation.
European journal of pediatrics - 1 Apr 2004
Schara Ulrike, Tücke Jens, Mortier Wilhelm, Nüsslein Thomas, Rouan Fatima, Pfendner Ellen, Zillikens Detlef, Bruckner-Tuderman Leena, Uitto Jouni, Wiche Gerhard, Schröder Rolf
Abstract excerpt
UNLABELLED: Epidermolysis bullosa simplex with muscular dystrophy (OMIM 226670) is an autosomal recessive disorder caused by mutations of the human plectin gene on chromosome 8q24. Here, we report a 3-year-old girl, offspring of a consanguineous Lebanese family, who presented with skin blistering and recurrent episodes of severe respiratory distress necessitating tracheotomy at the age of 2 years. Repeated...
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