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Clin Exp Dermatol. 2017 Apr;42(3):316-319. doi: 10.1111/ced.13049. Epub 2017 Feb 27.

Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma.

Author information

1
Department of Dermatology, Worthing Hospital, Western Hospitals NHS Trust, Worthing, West Sussex, UK.
2
St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK.
3
Genetic Skin Disease Group, King's College London (Guy's Campus), London, UK.

Abstract

Punctate palmoplantar keratoderma type 1 (PPPK1) is a rare autosomal dominant inherited skin disease, characterized by multiple hyperkeratotic lesions on the palms and soles. The causative gene for PPPK1 has been identified as AAGAB, which encodes α- and γ-adaptin-binding protein p34. We describe the clinical features in three unrelated families with PPPK1, and report three recurrent causative mutations in AAGAB.

PMID:
28239884
DOI:
10.1111/ced.13049
[Indexed for MEDLINE]

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