Hasal Eda, Baskan Emel Bulbul, Gul Seref, Dilektasli Asli Gorek, Sag Sebnem Ozemri, Adim Saduman Balaban, Temel Sehime Gulsun
Department of Dermatology and Venereology, Faculty of Medicine, Bursa Uludağ University, Bursa, Turkey.
Department of Chemical and Biological Engineering, Faculty of Engineering, Koc University, Istanbul, Turkey.
Ann Dermatol. 2022 Feb;34(1):66-71. doi: 10.5021/ad.2022.34.1.66. Epub 2022 Jan 27.
Birt-Hogg-Dube syndrome (BHDS) is a rare disorder characterized by the triad of cutaneous lesions, renal tumors, lung cysts and inactivation of the gene (). Here, we present three female patients diagnosed with BHDS. First case a 55-year-old female had flesh moles histopathology compatible with angiofibroma, multiple cysts in the lung and kidneys, gene mutations ('c.1285dupC [p.His429Profs*]' 11th exon and 'c.653G>A [p.Arg258His]' 7th exon). The second case a 76-year-old female had trichodiscoma on her skin, multiple cysts in the lung, spontaneous pneumothorax, gene mutation 'c.1285dupC (p.His429Profs27) 11th exon' and, her son had renal carcinoma history under 50 years of age. Our third case, also the daughter of case 2, had dermal papules histopathology compatible with trichodiscoma, spontaneous pneumothorax, gene mutation 'c.1285dupC (p.His429Profs27) 11th exon' and, parotid oncocytoma. Through our cases, we document the first case of two mutations ('c.1285dupC [p.His429Profs*]' 11th exon and 'c.653G>A [p.Arg258His]' 7th exon) in the same gene and the 11th known case of parotid oncocytoma associated with BHDS in the light of the literature.
Birt-Hogg-Dube综合征（BHDS）是一种罕见疾病，其特征为皮肤病变、肾肿瘤、肺囊肿三联征以及该基因失活。在此，我们报告3例诊断为BHDS的女性患者。首例为一名55岁女性，有组织病理学与血管纤维瘤相符的肉赘、肺和肾多发囊肿，存在该基因突变（第11外显子的“c.1285dupC [p.His429Profs*]”和第7外显子的“c.653G>A [p.Arg258His]”）。第二例为一名76岁女性，皮肤上有毛发上皮瘤、肺多发囊肿、自发性气胸，存在该基因突变“c.1285dupC (p.His429Profs27) 第11外显子”，且她的儿子有50岁以下肾癌病史。我们的第三例，也是第二例患者的女儿，有组织病理学与毛发上皮瘤相符的皮肤丘疹、自发性气胸，存在该基因突变“c.1285dupC (p.His429Profs27) 第11外显子”以及腮腺嗜酸性细胞瘤。通过我们的病例，我们记录了同一该基因中两个突变（第11外显子的“c.1285dupC [p.His429Profs*]”和第7外显子的“c.653G>A [p.Arg258His]”）的首例，以及根据文献记载的第11例与BHDS相关的腮腺嗜酸性细胞瘤病例。
