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- Title
Ectodermal dysplasia-skin fragility syndrome: a novel mutation in the PKP1 gene.
- Authors
Hernández‐Martín, A.; Torrelo, A.; Ciria, S.; Colmenero, I.; Aguilar, A.; Grimalt, R.; González‐Sarmiento, R.
- Abstract
Ectodermal dysplasia-skin fragility syndrome ( EDSFS) is an autosomal recessive genodermatosis characterized by skin fragility, palmoplantar hyperkeratosis, onichodystrophy, perioral fissuring and noncicatricial alopecia. It is caused by plakophilin-1 ( PKP1) deficiency, which results in desmosomal abnormality and poor intercellular cohesion between the epidermal cells. We report a case with a novel PKP1 mutation in intron 6.
- Subjects
ECTODERMAL dysplasia; SKIN infections; SKIN disease genetics; PALMOPLANTAR keratoderma; LANGERHANS cells; GENETIC mutation
- Publication
Clinical & Experimental Dermatology, 2013, Vol 38, Issue 7, p787
- ISSN
0307-6938
- Publication type
Article
- DOI
10.1111/ced.12109