Murakami Yukako, Wataya-Kaneda Mari, Tanaka Mari, Takahashi Aya, Tsujimura Akira, Inoue Koji, Nonomura Norio, Katayama Ichiro
Department of Dermatology, Osaka University Graduate School of Medicine, Suita, Japan.
Department of Urology, Osaka University Graduate School of Medicine, Suita, Japan.
Case Rep Dermatol. 2014 Feb 7;6(1):20-8. doi: 10.1159/000358216. eCollection 2014 Jan.
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant inherited disease caused by a germline mutation in the folliculin gene mapped in the region of chromosome 17p11.2. BHD predisposes the patient to cutaneous fibrofolliculomas (FFs), pulmonary cysts (PCs), and renal cell carcinoma (RC). Here, we present two cases of BHD in Japanese patients. One patient was a 37-year-old female, and the other a 35-year-old male. Each of the patients was affected by all three symptoms of BHD. Both patients had unremarkable FFs, asymptomatic PCs, and asymptomatic RC. The presence of RC was revealed by abdominal ultrasonic examination. We also summarized the data from 62 Asian cases of BHD from the available literature and found that their FFs were unremarkable. In addition, the proportion of BHD patients with FF is smaller for Asian patients than it is for Caucasian patients. We also found that it is rare for BHD patients in Asia to show all three symptoms of BHD. Careful inspection of the skin as well as skin biopsies are important for the early detection of BHD cases in Asia.
Birt-Hogg-Dubé综合征（BHD）是一种罕见的常染色体显性遗传病，由位于17号染色体p11.2区域的卵泡抑素基因突变引起。BHD使患者易患皮肤纤维毛囊瘤（FFs）、肺囊肿（PCs）和肾细胞癌（RC）。在此，我们报告两例日本BHD患者。一名患者为37岁女性，另一名为35岁男性。两名患者均出现BHD的所有三种症状。两名患者的纤维毛囊瘤均不明显，肺囊肿无症状，肾细胞癌也无症状。腹部超声检查发现了肾细胞癌的存在。我们还总结了现有文献中62例亚洲BHD病例的数据，发现他们的纤维毛囊瘤不明显。此外，亚洲BHD患者出现纤维毛囊瘤的比例低于白种人患者。我们还发现，亚洲BHD患者很少出现BHD的所有三种症状。仔细检查皮肤以及进行皮肤活检对于亚洲地区早期发现BHD病例很重要。
