Ectodermal dysplasia–skin fragility syndrome: a novel mutation in the PKP1 gene. (18th September 2013)

• Record Type: Journal Article
• Authors: Hernández‐Martín, A.; Torrelo, A.; Ciria, S.; Colmenero, I.; Aguilar, A.; Grimalt, R.; González‐Sarmiento, R.
• Is Part Of: Clinical and experimental dermatology. Volume 38:Number 7(2013)
• Page Start: 787
• Page End: 790
• Publication Date: 2013-09-18
• Subjects: Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/ced.12109
• Languages: English
• ISSNs: 0307-6938

Abstract

<abstract abstract-type="main" id="ced12109-abs-0001"> <title>Summary</title> <p>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 <italic>PKP1</italic> mutation in intron 6.</p> </abstract>