489 Nagashima-type palmoplantar keratoderma: Mutation analysis of the SERPINB 7 gene
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چکیده
منابع مشابه
Watcher’s type of palmoplantar keratoderma
A 51-year-old man reported with progressive thickening of the skin of the hands and feet since the age of 6yrs. It was largely asymptoma c; however, brisk walking caused excessive swea ng, pain, and widening of the fissures on the soles of the feet. He also had scaly raised lesions on legs and knees. His mother, maternal aunt, cousin and nephew had similar lesions. Examination of the soles of f...
متن کاملBrunauer-Fuhs-Siemens palmoplantar keratoderma: A rare, striate type of focal palmoplantar keratoderma
Brunauer-Fuhs-Siemens palmoplantar keratoderma, commonly known as striate palmoplantar keratoderma, is a rare, autosomally inherited disease of linear hyperkeratosis in which patient usually presents with conspicuous longitudinal hyperkeratosis on volar surface of hands and feet. Mutations in 3 genes namely desmoglein 1, desmoplakin and keratin 1, have been identified and held responsible for t...
متن کاملHereditary palmoplantar keratoderma type papulosa in Slovenia.
BACKGROUND Hereditary palmoplantar keratodermas (HPPK) are relatively frequent in Slovenia; however, the papulosa type of HPPK is rare. Epidemiological data are scarce; a population study in Croatia revealed a prevalence of 1.17/100,000 inhabitants. According to the preliminary data, it seems that HPPK papulosa is more common in Slovenia than in other countries. Efforts were made to identify al...
متن کاملPossible Nagashima-Type Palmoplantar Keratosis in Two Siblings
Nagashima-type palmoplantar keratosis (PPK) is an autosomal recessive, transgressive and non-progressive form of PPK. It was once described as a mild form of mal de Meleda, but it is now proposed as a novel entity of PPK. Since its pathogenesis remains unclear, it is important to clarify the mode of inheritance. Here, we present a case of possible Nagashima-type PPK in 2 siblings. The siblings ...
متن کاملNagashima-type palmoplantar keratosis in a Chinese Han population
Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive form of palmoplantar keratoderma (PPK), which is caused by mutations in the SERPINB7 gene. NPPK has only been reported in Japanese and Chinese populations. The present study was conducted on 12 unrelated Chinese patients who were clinically predicted to suffer from NPPK. Mutation screening was performed by direct sequencing ...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2017
ISSN: 0022-202X
DOI: 10.1016/j.jid.2017.02.509