Pathomechanisms of Altered Wound Healing in Recessive Dystrophic Epidermolysis Bullosa

Research output: Contribution to journalReview articlepeer-review

Abstract

Individuals with recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic skin disease, carry mutations in the COL7A1 gene that codes for type VII collagen, an extracellular matrix component of the basement membrane zone forming the anchoring fibrils. As a consequence, RDEB individuals manifest unremitting skin blistering that evolves into chronic wounds, inflammation, and fibrosis. These features play a central role in the development of more severe disease complications, such as mitten deformities of hands and feet and aggressive epithelial cancers. Despite being recognized as a central clinical issue for RDEB, wound healing impairment has been only marginally investigated. Recently, studies with disease mouse models started to shed light on the molecular mechanisms underlying the altered healing response of RDEB. In turn, alterations found in RDEB skin cell behavior fostered the understanding of mechanisms that may be responsible for defective skin repair. This review summarizes findings related to healing impairment in RDEB, and highlights therapeutic strategies for ameliorating healing.

Original languageEnglish
Pages (from-to)1445-1453
Number of pages9
JournalAmerican Journal of Pathology
Volume187
Issue number7
DOIs
Publication statusPublished - Jul 1 2017

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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