Conflict of interest: none declared.
Experimental dermatology ● Concise report
Ectodermal dysplasia–skin fragility syndrome: a novel mutation in the PKP1 gene
Version of Record online: 18 SEP 2013
© 2013 British Association of Dermatologists
Clinical and Experimental Dermatology
Volume 38, Issue 7, pages 787–790, October 2013
How to Cite
Hernández-Martín, A., Torrelo, A., Ciria, S., Colmenero, I., Aguilar, A., Grimalt, R. and González-Sarmiento, R. (2013), Ectodermal dysplasia–skin fragility syndrome: a novel mutation in the PKP1 gene. Clinical and Experimental Dermatology, 38: 787–790. doi: 10.1111/ced.12109
- Issue online: 18 SEP 2013
- Version of Record online: 18 SEP 2013
- Manuscript Accepted: 7 NOV 2012
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.