Belousova I E, Shpilyuk R G, Chepushtanova K O, Gorbunov Yu G, Kazakov D V
Kirov Military Medical Academy, St. Petersburg, Russia.
Charles University, Pilsen, Czech Republic.
Arkh Patol. 2021;83(3):45-51. doi: 10.17116/patol20218303145.
Birt-Hogg-Dubé syndrome is a rare autosomal dominant disease caused by a mutation in the gene and presents with a triad of multiple fibrofolliculomas, trichodiscomas, and masses that clinically resemble fibroepithelial polyps (acrochordones), accompanied by an increased risk of kidney tumors and lung cysts. The paper provides a literature review supplemented by clinical cases and the morphological pattern of skin lesions. It presents the clinical and morphological features of cutaneous manifestations of the syndrome and gives diagnostic criteria.
Birt-Hogg-Dubé综合征是一种由该基因的突变引起的罕见常染色体显性疾病，其特征为三联征，即多发性纤维毛囊瘤、毛发上皮瘤和临床上类似于纤维上皮息肉（软垂疣）的肿物，并伴有肾肿瘤和肺囊肿风险增加。本文提供了文献综述，并辅以临床病例和皮肤病变的形态学模式。它呈现了该综合征皮肤表现的临床和形态学特征，并给出了诊断标准。
