Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus
نویسندگان
چکیده
منابع مشابه
A novel keratin 13 variant in a four‐generation family with white sponge nevus
We report a novel KRT13 germ line variant that causes white sponge nevus (WSN) with mucosal dysplasia. Genital, vaginal, and cervical WSN were observed in four female patients, of whom two had premalignant cervical lesions at young age. Two of the 12 patients with oral WSN developed oral squamous cell carcinoma.
متن کاملKeratin 13 mutations associated with oral white sponge nevus in two Chinese families
White sponge nevus (WSN) is an autosomal dominant hereditary disease. Keratin 4 (KRT4) and Keratin 13 (KRT13) gene mutations were involved in the WSN. We recruited two WSN Chinese families, and oral lesion biopsy with hematoxylin and eosin staining showed that patients had significant pathological characteristics. The mutations of KRT4 and KRT13 gene were detected by PCR and direct sequencing. ...
متن کاملWhite sponge nevus: case report.
White sponge nevus (WSN) is a rare oral mucosal lesion first described by Cannon in 1935, characterized as benign leukokeratotic lesion of early onset with periods of remission and exacerbation. It is usually asymptomatic, although pruritus, burning, and pain have been reported following irritating stimuli.WSN is inherited as an autosomal dominant trait with wide variability of expression and h...
متن کاملWhite Sponge Nevus: A Case Report
White sponge nevus (WSN) is a rare hereditary dyskeratotic hyperplasia of mucous membranes. It is an autosomal dominant disorder with variable penetrance. We report a case of WSN in a healthy 21-year-old male with no history of familial involvement. A white smooth plaque with no erythema or other structural abnormalities was observed, which confirmed the diagnosis of WSN histopathologically.
متن کاملwhite sponge nevus: a case report
white sponge nevus (wsn) is a rare hereditary dyskeratotic hyperplasia of mucous membranes. it is an autosomal dominant disorder with variable penetrance. we report a case of wsn in a healthy 21-year-old male with no history of familial involvement. a white smooth plaque with no erythema or other structural abnormalities was observed, which confirmed the diagnosis of wsn histopathologically.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Nature Genetics
سال: 1995
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng1295-453