New and recurrent AAGAB mutations in punctate palmoplantar keratoderma
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New and recurrent AAGAB mutations in punctate palmoplantar keratoderma
S . GOERDT , 2 J . UT I KA L , 2 , 3 M. LEV E RKU S 1 , 2 Department of Dermatology, Venereology and Allergology, University Medical Center, Theodor-Kutzer-Ufer 1-3, 68135 Mannheim, Germany Ruprecht-Karl-University of Heidelberg, Mannheim, Germany Skin Cancer Unit, German Cancer Research Center (DKFZ), Heidelberg, Germany Correspondence: Martin Leverkus. E-mail: [email protected]...
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palmoplantar keratoderma in patients from PPK01. Note the typical clinical presentation of more punctate lesions on the palms and more confluent lesions on the soles, demonstrating increased hyperkeratinization from mechanical trauma. (B) The pedigree for Israeli family PPK01 with sequencing results indicated below the patients (+ indicates wild-type,-indicates mutation). White indicates unaffe...
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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 papu...
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© 2014 The Authors. doi: 10.2340/00015555-1724 Journal Compilation © 2014 Acta Dermato-Venereologica. ISSN 0001-5555 Punctate palmoplantar keratoderma (PPPK, OMIM 148600), also known as Buschke-Fischer-Brauer’s disease, is a rare autosomal dominant disorder. It is characterised by multiple tiny punctate keratoses on the surface of the palms and soles (1). The lesions usually start to develop in...
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ژورنال
عنوان ژورنال: British Journal of Dermatology
سال: 2014
ISSN: 0007-0963,1365-2133
DOI: 10.1111/bjd.12927