Palmoplantar keratoderma unveiling renal cell carcinoma: A novel paraneoplastic presentation
نویسندگان
چکیده
منابع مشابه
PIGO 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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A 46-year-old female was admitted to the hospital with jaundice and pruritus. The patient had no previous history of liver or biliary disease. She had no reported any drug use nor had she any history of cigarette smoking or drinking alcohol. In the physical exam, she had icterus in the sclera of her eyes, and no pathologic exam finding was observed other than mild painless hepatomegaly. There 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...
متن کاملAutosomal 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...
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ژورنال
عنوان ژورنال: Indian Journal of Dermatology, Venereology, and Leprology
سال: 2016
ISSN: 0378-6323
DOI: 10.4103/0378-6323.174410