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L. Liu, J.E. Mellerio, A.E. Martinez, J.R. McMillan, S. Aristodemou, M. Parsons and J.A. McGrath Mutations in EXPH5 result in autosomal recessive inherited skin fragility British Journal of Dermatology 170

Version of Record online: 13 JAN 2014 | DOI: 10.1111/bjd.12723

What's already known about this topic?

  • Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous group of mechanobullous diseases.
  • Recently, autosomal recessive mutations in EXPH5 (encoding exophilin-5, a protein involved in intracellular vesicle transport) were identified in a new clinicopathological subtype of EBS.

What does this study add?

  • We identified a case with new compound heterozygous loss-of-function mutations in EXPH5.
  • The clues to diagnosis came from transmission electron microscopy, with ultrastructural findings of abnormal intracellular vesicles in basal keratinocytes leading to keratin filament aggregation, cytolysis and acantholysis.
  • This study highlights an important and unexpected role for exophilin-5 in maintaining skin integrity.

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