New and recurrent AAGAB mutations in punctate palmoplantar keratoderma
نویسندگان
چکیده
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]
منابع مشابه
Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.
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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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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© 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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Palmoplantar keratodermas (PPKs) are a large group of disorders characterized by hyperkeratosis of palms and soles. They can be classified by their mode of inheritance, the morphology and distribution of the hyperkeratosis (diffuse, focal or punctate), the involvement of other ectodermal structures, the presence or absence of associated nonectodermal features and the morphological findings at l...
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The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterized by thickening of the epidermis of the palms and soles. No classification system satisfactorily unites clinical presentation, pathology and molecular pathogenesis. There are four patterns of hyperkeratosis - striate, focal, diffuse and punctate. Mutations in the desmoglein 1 gene (DSG1), a t...
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