New and recurrent AAGAB mutations in punctate palmoplantar keratoderma

Elizabeth Pohler, M. Huber, S. E. Boonen, M. Zamiri, P. A. Gregersen, M. Sommerlund, M. Ramsing, D. Hohl, W. H. I. McLean, F. J. Smith (Lead / Corresponding author)

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9 Citations (Scopus)
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Punctate palmoplantar keratoderma type I (PPPK1; also known as Buschke-Fischer-Brauer type; OMIM 148600) is an autosomal dominant disorder of keratinization, characterised by multiple hyperkeratotic lesions on palms and soles that usually start in early adolescence but may also start later in life (1). Lesions increase in size and number with advancing age and may coalesce over pressure points to form larger plaques. Recently, two consecutive studies identified the causative gene for PPPK1 as AAGAB (2, 3), located on chromosome 15q23, a locus to which the causal gene for PPPK1 was previously mapped (4). This article is protected by copyright. All rights reserved.

Original languageEnglish
Pages (from-to)433-436
Number of pages4
JournalBritish Journal of Dermatology
Issue number2
Early online date7 Aug 2014
Publication statusPublished - 18 Aug 2014


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