Punctate Palmoplantar Keratoderma Type 1: A Novel AAGAB Mutation and Efficacy of Etretinate

Toshifumi Nomura (Lead / Corresponding author), Akihiro Yoneta, Elizabeth Pohler, Shotaro Suzuki, Rinko Osawa, Osamu Mizuno, Yuka Ohguchi, Yukiko Nomura, Toshiharu Yamashita, W. H. Irwin McLean, Hiroshi Shimizu

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)

Abstract

Punctate palmoplantar keratoderma type 1 (PPKP1, OMIM#148600), also known as the Buschke-FischerBraurer type, is a rare form of palmoplantar keratoderma that is autosomal dominantly inherited (1). PPKP1 is clinically characterised by multiple punctate hyperkeratotic papules affecting the palmar and plantar skin, with considerable phenotypic variation among patients (2). These circumscribed papules gradually coalesce and increase in number with age (2). The lesions typically start to appear in early adolescence but sometimes develop later in life. In 2012, linkage analysis and whole-exome sequencing identified heterozygous null mutations within AAGAB as a cause of PPKP1 (2, 3). AAGAB encodes α and γ-adaptin binding protein p34, which is involved in clathrin-mediated vesicle transport (2). Loss-of-function mutations in AAGAB result in haploinsufficiency of p34 (2). To date, 20 AAGAB null variants have been identified in Scottish, Irish, English, German, Tunisian, Chinese Mexican and Japanese populations (2–8). Here we report a Japanese case with PPKP1 carrying a novel AAGAB null mutation.
Original languageEnglish
Pages (from-to)110-111
Number of pages2
JournalActa Dermato-Venereologica
Volume95
Issue number1
Early online date27 Feb 2014
DOIs
Publication statusPublished - 2014

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