Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa.

ABSTRACT:

Background

Revertant mosaicism has been described previously in recessive dystrophic epidermolysis bullosa (RDEB), manifesting as regions of skin with normal mechanical and biological characteristics. Here we report the discovery of revertant dermal fibroblasts, unique in that all other documented cases of revertant mosaicism occur in epidermal keratinocytes.

Objectives

To determine the cause of revertant mosaicism found in a patient with RDEB from isolated epidermal keratinocytes and dermal fibroblasts in blister and mosaic skin regions.

Methods

Skin biopsies were taken from blister and mosaic skin regions of a patient with RDEB. Allele identification was confirmed and the type VII collagen (C7) content and COL7A1 expression profile of isolated keratinocytes and fibr

SUBMITTER: Twaroski K 

PROVIDER: S-EPMC6766431 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature