结节性硬化症是一种常染色体显性遗传的神经皮肤综合征,引起多器官错构瘤。60%的病人伴面部血管纤维瘤,严重时可致毁容。口服哺乳动物西罗莫司靶蛋白(mammalian target of rapamycin,m TOR)抑制剂如西罗莫司可治疗结节性硬化相关症状,...结节性硬化症是一种常染色体显性遗传的神经皮肤综合征,引起多器官错构瘤。60%的病人伴面部血管纤维瘤,严重时可致毁容。口服哺乳动物西罗莫司靶蛋白(mammalian target of rapamycin,m TOR)抑制剂如西罗莫司可治疗结节性硬化相关症状,提出外用西罗莫司治疗面部血管纤维瘤效果较好,本文就西罗莫司的作用机制、临床治疗效果、不良反应做一综述。展开更多
Birt-Hogg-Dubésyndrome (BHDS) is an uncommon autosomal dominant genodermatosis characterized by a triad of skin tumors-fibrofolliculomas, trichodiscomas, and acrochordons-together with an increased risk of renal ...Birt-Hogg-Dubésyndrome (BHDS) is an uncommon autosomal dominant genodermatosis characterized by a triad of skin tumors-fibrofolliculomas, trichodiscomas, and acrochordons-together with an increased risk of renal tumors and spontaneous pneumothoraces. This report describes multiple facial angiofi-bromas as the predominant initial manifestation of BHDS. The patient had a total of 41 facial papules removed via shave excision, initially for diagnostic and then for therapeutic purposes; histologic evaluation revealed diagnostic features of angiofi-broma in 39 lesions and fibrofolliculoma in only 2. BHDS should be considered, along with tuberous sclerosis and multiple endocrine neoplasia type 1, in the differential diagnosis of multiple facial angiofibromas, particularly when onset is in adulthood.展开更多
文摘结节性硬化症是一种常染色体显性遗传的神经皮肤综合征,引起多器官错构瘤。60%的病人伴面部血管纤维瘤,严重时可致毁容。口服哺乳动物西罗莫司靶蛋白(mammalian target of rapamycin,m TOR)抑制剂如西罗莫司可治疗结节性硬化相关症状,提出外用西罗莫司治疗面部血管纤维瘤效果较好,本文就西罗莫司的作用机制、临床治疗效果、不良反应做一综述。
文摘Birt-Hogg-Dubésyndrome (BHDS) is an uncommon autosomal dominant genodermatosis characterized by a triad of skin tumors-fibrofolliculomas, trichodiscomas, and acrochordons-together with an increased risk of renal tumors and spontaneous pneumothoraces. This report describes multiple facial angiofi-bromas as the predominant initial manifestation of BHDS. The patient had a total of 41 facial papules removed via shave excision, initially for diagnostic and then for therapeutic purposes; histologic evaluation revealed diagnostic features of angiofi-broma in 39 lesions and fibrofolliculoma in only 2. BHDS should be considered, along with tuberous sclerosis and multiple endocrine neoplasia type 1, in the differential diagnosis of multiple facial angiofibromas, particularly when onset is in adulthood.
