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Matrix Biol. 2018 Oct;71-72:313-329. doi: 10.1016/j.matbio.2018.04.001. Epub 2018 Apr 5.

Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone.

Author information

1
Department of Dermatology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
2
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.
3
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address: Jouni.Uitto@Jefferson.edu.

Abstract

Epidermolysis bullosa (EB), a group of heritable skin fragility disorders, is characterized by blistering, erosions and chronic ulcers in the skin and mucous membranes. In some forms, the blistering phenotype is associated with extensive mutilating scarring and development of aggressive squamous cell carcinomas. The skin findings can be associated with extracutaneous manifestations in the ocular as well as gastrointestinal and vesico-urinary tracts. The phenotypic heterogeneity reflects the presence of mutations in as many as 20 different genes expressed in the cutaneous basement membrane zone, and the types and combinations of the mutations and their consequences at the mRNA and protein levels contribute to the spectrum of severity encountered in different subtypes of EB. This overview highlights the molecular genetics of EB based on mutations in the genes encoding type VII and XVII collagens as well as laminin-332. The mutations identified in these protein components of the extracellular matrix attest to their critical importance in providing stability to the cutaneous basement membrane zone, with implications for heritable and acquired diseases.

KEYWORDS:

Basement membrane zone; Epidermolysis bullosa; Heritable blistering diseases; Laminin-332; Type VII collagen; Type XVII collagen

PMID:
29627521
DOI:
10.1016/j.matbio.2018.04.001
[Indexed for MEDLINE]

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