European Journal of Pediatrics

, Volume 163, Issue 4–5, pp 218–222 | Cite as

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

  • Ulrike ScharaEmail author
  • Jens Tücke
  • Wilhelm Mortier
  • Thomas Nüßlein
  • Fatima Rouan
  • Ellen Pfendner
  • Detlef Zillikens
  • Leena Bruckner-Tuderman
  • Jouni Uitto
  • Gerhard Wiche
  • Rolf Schröder
Original Paper


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.


Epidermolysis bullosa simplex with muscular dystrophy Plakin proteins Plectin 



epidermolysis bullosa


epidermolysis bullosa simplex


epidermolysis bullosa simplex with muscular dystrophy


plectin gene



We thank Dr. C. Kubisch, Institute of Human Genetics, Bonn, for helpful discussions and Christa Knaus, Würzburg, for help with the immunofluorescence studies. This work was supported in part by a grant from German Ministry for Education and Research (BMBF) for the “Network for rare diseases: epidermolysis bullosa (grant Nr. 01GM0301, L. B-T.) and muscular dystrophies (grant Nr. 01GM0302, R.S.). The work on plectin mutation analysis was supported by the NIH/NIAMS grant P01-AR38923.


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Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Ulrike Schara
    • 1
    • 7
    Email author
  • Jens Tücke
    • 1
  • Wilhelm Mortier
    • 1
  • Thomas Nüßlein
  • Fatima Rouan
    • 2
  • Ellen Pfendner
    • 2
  • Detlef Zillikens
    • 3
  • Leena Bruckner-Tuderman
    • 4
  • Jouni Uitto
    • 2
  • Gerhard Wiche
    • 5
  • Rolf Schröder
    • 6
  1. 1.Department of Paediatrics and Paediatric NeurologyRuhr-University BochumBochum Germany
  2. 2.Department of Dermatology and Cutaneous BiologyJefferson Institute of Molecular Medicine, Jefferson Medical College USA
  3. 3.Department of DermatologyUniversity of WürzburgWürzburg Germany
  4. 4.Department of DermatologyUniversity of FreiburgFreiburg Germany
  5. 5.Institute of Biochemistry and Molecular Cell BiologyUniversity of Vienna, Vienna Biocentre Austria
  6. 6.Department of NeurologyUniversity of BonnBonn Germany
  7. 7.Center of NeuropediatricsStädtische Kliniken NeussNeuss Germany

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