Epidermolysis bullosa simplex with muscular dystrophy.

Abstract

Epidermolysis bullosa simplex (EBS) is an inherited skin disorder characterized by separation of the epidermis from the underlying dermis, with the cleavage plane lying within the basal-cell layer of the epithelium. The major clinical subtypes of EBS have a dominant inheritance and have been associated with genetic defects in specific domains of keratins K5 and K14 that result in abnormal organization of the keratin network and cell disruption. Autosomal recessive forms of EBS associated with extracutaneous manifestations, such as muscular dystrophy (MIM 226670) or pyloric atresia (MIM 612138), have been linked to genetic mutations in the gene for plectin (PLEC). PLEC mutations have also been found in 2 families with the rare dominant Ogna form of EBS. This article reviews current knowledge on EBS.

• Authors: C Chiavérini, A Charlesworth, G Meneguzzi, J P Lacour, J P Ortonne
• Journal: Dermatologic clinics (Dermatol Clin) Vol. 28 Issue 2 Pg. 245-55, viii (Apr 2010) ISSN: 1558-0520 [Electronic] United States
• PMID: 20447487 (Publication Type: Journal Article, Review)
• Copyright: Copyright 2010 Elsevier Inc. All rights reserved.

Chemical References

• PLEC protein, human
• Plectin

Topics

• Base Sequence
• Epidermolysis Bullosa Simplex (complications, genetics)
• Genotype
• Humans
• Molecular Sequence Data
• Muscular Dystrophies (complications, genetics)
• Phenotype
• Plectin (genetics)
• Pylorus (abnormalities)