Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency
نویسندگان
چکیده
منابع مشابه
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.
Desmosomes are highly organized intercellular adhesive junctions that are particularly prominent in epidermis and other tissues experiencing mechanical stress. Desmoplakin, a constitutive component of the desmosomal plaque, is the most abundant protein present in such junctions and plays a critical role in linking the intermediate filament network to the plasma membrane in these tissues. Here w...
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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...
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Mutations in genes encoding for desmosomal components are associated with a broad spectrum of phenotypes comprising skin and hair abnormalities and account for 45-50% of cases of arrhythmogenic right ventricular cardiomyopathy. Today, more than 120 dominant and recessive desmoplakin (DSP) gene mutations have been reported to be associated with skin, hair and/or heart defects. Here we report on ...
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Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species. Mutations in the GJB2 gene, encoding Connexin 26, can cause nonsyndromic autosomal recessive or dominant hearing loss with or without skin manifestations. A 3-yr-old Korean female and her mother presented to ou...
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Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders. Epidermolytic PPK is a well delineated autosomal dominant entity, but no recessive form is known. Here we report two sons of phenotypically normal, consanguineous, Arab parents with features suggestive of PPK. They presented with patchy eczematous skin lesions followed by PPK and raised serum levels of IgE. Skin biopsy from t...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 1999
ISSN: 0022-202X
DOI: 10.1046/j.1523-1747.1999.00783.x