منابع مشابه
Rare ocular manifestations in keratosis follicularis (Darier–White disease)
Keratosis follicularis (Darier's disease) is a rare (1 in 30,000-100,000) genetic autosomal-dominant predominantly dermatological disorder characterized by hyperkeratosis and acantholysis due to a defective calcium transport in the cells. Ocular findings, if present, are very rare in this condition. Here, we are reporting a case of keratosis follicularis (Darier's disease) with ocular manifesta...
متن کاملAcral Hemorrhagic Darier Disease.
Darier disease is an autosomal-dominant inherited condition caused by mutation of a gene, which produces a protein involved in calcium channel regulation. The disease has a variety of manifestations and lacks consistent genotype-phenotype correlations. Acral hemorrhagic Darier disease causes macules, papules, vesicles and/or hemorrhagic blisters on the extremities. Other classic signs of the di...
متن کاملDarier disease: a case report.
The diagnosis of Darier disease of the oral mucosa was made only after biopsying a leukoplakia-like lesion of the palate.
متن کاملDarier disease and Hailey-Hailey disease.
Darier disease (DD) and Hailey-Hailey disease (HHD) are autosomal dominantly inherited genodermatosis, caused by mutations in ATP2A2 gene and ATP2C1 respectively. We investigated clinical and laboratory two patients - a men with Darier disease and a woman with Hailey-Hailey disease. The patient with Darier disease has mucosal lesions and dental modifications associated with mild mental retardat...
متن کاملA severe fatal case of Darier-White disease—an extreme phenotype or a new entity?
DWD: Darier-White disease INTRODUCTION Darier-White disease (DWD) is an autosomaldominant skin disease characterized by warty keratotic papules and plaques in a primarily seborrheic distribution. Vegetating papules, erosions, or blisters may sometimes be present. Other findings may include varieties of nail abnormalities, ‘‘cobblestoning’’ of the oral mucosa, filiform keratoderma on the palms a...
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ژورنال
عنوان ژورنال: Dermatology Online Journal
سال: 2016
ISSN: 1087-2108
DOI: 10.5070/d32212033388