Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24
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چکیده
منابع مشابه
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24.
BACKGROUND The identification of the molecular basis of disorders of keratinisation has significantly advanced our understanding of skin biology, revealing new information on key structures in the skin, such as the intermediate filaments, desmosomes, and gap junctions. Among these disorders, there is an extraordinarily heterogeneous group known as palmoplantar keratodermas (PPK), for which only...
متن کاملIdentification of Distinct Mutations in AAGAB in Families with Type 1 Punctate Palmoplantar Keratoderma
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...
متن کاملUnilateral Linear Punctate Palmoplantar Keratoderma: A Case Report
Punctate palmoplantar keratoderma (PPPK) is a rare entity with an estimated prevalence rate of 1.17/100,000. PPPK usually presents with bilateral asymptomatic, tiny, hyperkeratotic punctate papules and plaques on the palmoplantar surface. Among the PPPK varieties, the linear presentation is much rarer, and so far there have been only 3 case reports. Here, we report the case of a 27-year-old fem...
متن کاملPunctate 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...
متن کاملNew 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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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2003
ISSN: 1468-6244
DOI: 10.1136/jmg.40.12.872