Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes
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چکیده
منابع مشابه
Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening
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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BACKGROUND Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause a...
متن کاملNovel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules.
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...
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 کاملMutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma.
Twenty years have elapsed since keratin mutations were linked to cutaneous genodermatoses, and we now know that they cause 40 different genetic disorders. In this issue, Wilson et al. have identified KRT6C mutations in patients with focal palmoplantar keratoderma (FPPK), but debate concerning overlapping phenotypes between FPPK and pachyonychia congenita (PC) will continue because only one fami...
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ژورنال
عنوان ژورنال: British Journal of Dermatology
سال: 2019
ISSN: 0007-0963,1365-2133
DOI: 10.1111/bjd.17839