Article
Recessive epidermolysis bullosa simplex phenotype reproduced in vitro: ablation of keratin 14 is partially compensated by keratin 17.
The American journal of pathology - 1 Nov 2003
El Ghalbzouri Abdoelwaheb, Jonkman Marcel, Kempenaar Johanna, Ponec Maria
Abstract excerpt
Recessive epidermolysis bullosa simplex (REBS) is characterized by generalized cutaneous blistering in response to mechanical trauma. This results from fragility of the basal keratinocytes that lack keratin tonofilaments because of homozygote null mutation in the keratin 14 gene. REBS patients display in addition focal dyskeratotic skin lesions with histology of epidermolytic hyperkeratosis (EHK) and tonofilament...
Topics
- Biopsy
- Cell Culture Techniques
- Cells, Cultured
- Epidermis
- Epidermolysis Bullosa
- Fibroblasts
- Genes, Recessive
- Humans
- Immunohistochemistry
- Keratin-14
- Keratinocytes