نتایج جستجو برای: spiegler syndrome
تعداد نتایج: 621971 فیلتر نتایج به سال:
Malignant cylindroma (cylindromatous carcinoma, cylindrocarcinoma) is the malignant counterpart of benign cylindroma. It is a rare neoplasm, more often developing in the setting of multiple preexisting benign neoplasms. Herein we present an additional case of malignant transformation of the cylindroma diagnosed in an 83-year-old patient with known Brooke-Spiegler syndrome.
Brooke-Spiegler syndrome is an autosomal dominant disorder with variable penetrance and expression. It is characterized by a genetic predisposition to develop multiple adnexal neoplasias: cylindromas, trichoepitheliomas, and trichoblastomas. We describe a 54-year-old male patient with cylindromas, trichoepitheliomas, and trichoblastoma.
Skin adnexal tumors develop as a consequence of germline pathogenic variants in the cylindomatosis(CYLD) gene patients with Brooke-Spiegler syndrome (BSS), clinical variant CYLD cutaneous syndrome. The first typically present at puberty and they progressively accumulate through adulthood. To improve understanding development skin tumors, we performed here genome-wide methylation analysis on blo...
Differential diagnosis of Brooke–Spiegler syndrome in a young woman with multiple trichoepitheliomas
BrookeSpiegler syndrome (Brooke-Spiegler syndrome; OMIM #605041) is a rare, autosomal dominant inherited monogenic disease caused by mutations in gene CYLD with its different penetrance.
 It clinically manifested the development of multiple neoplasms skin appendages such as spiradenoma, cylindroma, spiradenocylindroma and trichoepithelioma. Several phenotypic variants have been described s...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید