Birt-Hogg-Dubé综合征是一种常染色体显性遗传的、多系统疾病,由卵泡蛋白基因FLCN(17p11.2)突变引起。这种遗传性疾病的特征是皮肤病变、肾脏肿瘤、囊性肺疾病和自发性气胸。
Birt-Hogg-Dubé (BHD)综合征是一种罕见的常染色体显性多器官系统性疾病,其特征是存在纤维滤泡瘤、肺囊肿伴或不伴自发性气胸和肾肿瘤。胸部CT偶然发现肺囊肿和自发性气胸时发现,BHD综合征的早期表现可能只有多发性肺囊肿 BHD综合征(Birt-Hogg-Dube syndrome, BHD S;MIM::135150),在家系中以常 染色体显性遗传形式...
支持BHD。 BHD综合征是一种罕见的常染色体显性遗传卵泡刺激素基因异常性疾病,首先于1977年由Birt、Hogg和Dubé三位医师报道, 典型临床表现为皮肤纤维毛囊瘤、肺囊肿、自发性气胸和肾肿瘤(通常为双侧), 甚至还可出现直肠息肉、直肠癌、卵巢囊肿、视网膜斑痕等改变。 BHD主要影像表现特征: 1、两肺内肺囊肿:80%以上的...
Background: Birt-Hogg-Dube syndrome (BHDS) is a raEscuissatoUnivDanteUnivLuizUnivIrionUnivKlausUnivLoureiroUnivGuimaraesUnivMarcosUnivDuarteUnivZanettiUnivRespiratory medicineBirt-Hogg-Dubé syndrome. State-of-the-art review with emphasis on pulmonary involvement[J] . Aline Amaral Dal Sasso,Luciana ...
呼吸罕见病医生培训-Birt-Hogg-Dube综合征 91849 观看发布时间 2022-08-17 课程介绍 讲者介绍 时间:2022年8月17日 19:00-21:00
In 1977, Birt, Hogg, and Dubé reported small papular skin lesions distributed over the scalp, forehead, face, and neck in 15 of 70 members in a kindred study. Histologic examination of the lesions revealed fibrofolliculomas, trichodiscomas, and acrochor
birt-hogg-dube syndromeflcn genepapuleBackground Birt-Hogg-Dub茅 syndrome (BHD) is a dominantly inherited predisposition for development of fibrofolliculomas, trichodiscomas, and acrochordons. Concurrent internal tumors, such as colonic polyps and renal carcinoma, have been described in patients with...
Birt-Hogg-Dubé Syndrome, ArtículoBirt-Hogg-Dube Syndrome is an autosomal dominant condition characterized by a triad of fibrofolliculomas, trichodiscomas, and acrochordons. Since the first description in 1977, many conditions have been described in association with its clinical triad. Recent ...
Birt-Hogg-Dube Syndrome. Bezmialem Science 2018; 6(3): 220-2. Birt-Hogg-Dube Sendromu/Birt-Hogg-Dube Syndrome Birt-Hogg-Dube syndrome was suspected given this patient's basilar predominant multiple lung cysts and bilateral renal masses, but without skin findings the diagnosis was in question....
Birt-Hogg-Dubé综合征(Birt-Hogg-Dubé,BHD)是一种罕见的以肺部囊状改变、皮肤良性肿瘤及多种类型的肾脏肿瘤为特征的常染色体显性遗传病,第17号染色体的FLCN基因突变与BHD综合征的发生相关。 常见临床表现 1. 皮肤表现:主要分布在面部,颈部以及上躯干,表现为纤维毛囊瘤;可伴有毛盘瘤,软垂疣。纤维毛囊瘤为特异性...