Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma
نویسندگان
چکیده
منابع مشابه
Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-).
DESCRIPTION We report the case of a 28-year-old man presenting to our hospital with refractory diffuse hyperkeratosis of palms and soles. He reported first appearance in early childhood. His first-born daughter also developed hyperkeratosis on palms and soles directly after birth. No other family member seems to be affected by similar skin lesions. Clinically, our patient presented diffuse hype...
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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 کاملPalmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient mice
Mutations in SLURP1 cause mal de Meleda, a rare palmoplantar keratoderma (PPK). SLURP1 is a secreted protein that is expressed highly in keratinocytes but has also been identified elsewhere (e.g., spinal cord neurons). Here, we examined Slurp1-deficient mice (Slurp1(-/-)) created by replacing exon 2 with β-gal and neo cassettes. Slurp1(-/-) mice developed severe PPK characterized by increased k...
متن کاملDesmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
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 ...
متن کاملDiffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts.
Dear Editor, Clouston syndrome, also called hidrotic ectodermal dysplasia (HED), is an autosomal dominant ectodermal dysplasia characterized by a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma (1). Herein we report the case of a 24-year-old male with the distinctive clinical triad associated with multiple epidermoid cysts, which probably reflects the ...
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ژورنال
عنوان ژورنال: Acta Dermato Venereologica
سال: 2020
ISSN: 0001-5555
DOI: 10.2340/00015555-3404