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Case Reports
. 2004 Apr;163(4-5):218-22.
doi: 10.1007/s00431-004-1410-4. Epub 2004 Feb 13.

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

Ulrike Schara  1 , Jens Tücke, Wilhelm Mortier, Thomas Nüsslein, Fatima Rouan, Ellen Pfendner, Detlef Zillikens, Leena Bruckner-Tuderman, Jouni Uitto, Gerhard Wiche, Rolf Schröder
Affiliations
Case Reports

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

Ulrike Schara et al. Eur J Pediatr. 2004 Apr.

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.

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