Familiar palmoplantar keratoderma, flaccid blisters, and widespread scaling
نویسندگان
چکیده
منابع مشابه
Autosomal recessive epidermolytic palmoplantar keratoderma.
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...
متن کاملClouston Syndrome with Palmoplantar Keratoderma
Clouston syndrome (hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia and palmoplantar hyperkeratosis. Clouston syndrome is transmitted as an autosomal dominant trait and caused by mutations in the GJB6 gene (13q12), encoding the gap junction protein connexin 30 (C × 30). At present, there is no treatment for the disease and management is purely su...
متن کاملWatcher’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 کاملPIGO deficiency: palmoplantar keratoderma and novel mutations
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...
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ژورنال
عنوان ژورنال: JAAD Case Reports
سال: 2018
ISSN: 2352-5126
DOI: 10.1016/j.jdcr.2018.09.008