Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation

Ulrike Schara*, Jens Tücke, Wilhelm Mortier, Thomas Nüßlein, Fatima Rouan, Ellen Pfendner, Detlef Zillikens, Leena Bruckner-Tuderman, Jouni Uitto, Gerhard Wiche, Rolf Schröder

*Corresponding author for this work
21 Citations (Scopus)

Abstract

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 examination did not provide any evidence of muscle involvement. Indirect immunofluorescence analysis of a diagnostic skin biopsy with four different domain specific plectin antibodies showed a complete absence of plectin staining. Mutation analysis revealed a novel homozygous single guanine insertion mutation (5588insG/5588insG) residing in the N-terminal part of exon 31 of the plectin gene. Conclusion: The complete lack of protein expression, which may be attributed to a nonsense-mediated plectin mRNA decay, is likely to cause muscular dystrophy and other multisystem involvement later in life.

Original languageEnglish
JournalEuropean Journal of Pediatrics
Volume163
Issue number4-5
Pages (from-to)218-222
Number of pages5
ISSN0340-6199
DOIs
Publication statusPublished - 04.2004

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