Identification of a Locus for Punctate Palmoplantar Keratodermas at Chromosome 8q24.13–8q24.21
نویسندگان
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 کاملPunctate Palmoplantar Keratodermas: Case Reports and A Review of the Literature and Terminology
Keratodermas encompass a wide spectrum of disorders of keratinization that may be acquired or hereditary. We present two cases of focal acral hyperkeratosis (FAH), a subtype of punctate palmoplantar keratoderma. We review the literature and attempt to clarify the confusing classification of the heritable punctate palmoplantar keratodermas.
متن کاملPalmoplantar keratodermas: clinical and genetic aspects.
Palmoplantar keratodermas comprise a diverse group of acquired and hereditary disorders marked by excessive thickening of the epidermis of palms and soles. Early onset and positive family history suggest a genetic cause. While hereditary forms of palmoplantar keratoderma (PPK) may represent the sole or dominant clinical feature, they may also be associated with other ectodermal defects or extra...
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 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...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2004
ISSN: 0022-202X
DOI: 10.1111/j.0022-202x.2004.22507.x