Two Japanese Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts, Fibrofolliculomas, and Renal Cell Carcinomas
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,...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2014-02-01
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| Series: | Case Reports in Dermatology |
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| Online Access: | http://www.karger.com/Article/FullText/358216 |
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| author | Yukako Murakami Mari Wataya-Kaneda Mari Tanaka Aya Takahashi Akira Tsujimura Koji Inoue Norio Nonomura Ichiro Katayama |
| author_facet | Yukako Murakami Mari Wataya-Kaneda Mari Tanaka Aya Takahashi Akira Tsujimura Koji Inoue Norio Nonomura Ichiro Katayama |
| author_sort | Yukako Murakami |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-22T08:37:41Z |
| format | Article |
| id | doaj.art-676955aabfa5440698c4527c990e8d28 |
| institution | Directory Open Access Journal |
| issn | 1662-6567 |
| language | English |
| last_indexed | 2024-12-22T08:37:41Z |
| publishDate | 2014-02-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Dermatology |
| spelling | doaj.art-676955aabfa5440698c4527c990e8d282022-12-21T18:32:19ZengKarger PublishersCase Reports in Dermatology1662-65672014-02-0161202810.1159/000358216358216Two Japanese Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts, Fibrofolliculomas, and Renal Cell CarcinomasYukako MurakamiMari Wataya-KanedaMari TanakaAya TakahashiAkira TsujimuraKoji InoueNorio NonomuraIchiro KatayamaBirt-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.http://www.karger.com/Article/FullText/358216FibrofolliculomaPulmonary cystRenal cell carcinomaBirt-Hogg-Dubé syndrome |
| spellingShingle | Yukako Murakami Mari Wataya-Kaneda Mari Tanaka Aya Takahashi Akira Tsujimura Koji Inoue Norio Nonomura Ichiro Katayama Two Japanese Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts, Fibrofolliculomas, and Renal Cell Carcinomas Case Reports in Dermatology Fibrofolliculoma Pulmonary cyst Renal cell carcinoma Birt-Hogg-Dubé syndrome |
| title | Two Japanese Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts, Fibrofolliculomas, and Renal Cell Carcinomas |
| title_full | Two Japanese Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts, Fibrofolliculomas, and Renal Cell Carcinomas |
| title_fullStr | Two Japanese Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts, Fibrofolliculomas, and Renal Cell Carcinomas |
| title_full_unstemmed | Two Japanese Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts, Fibrofolliculomas, and Renal Cell Carcinomas |
| title_short | Two Japanese Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts, Fibrofolliculomas, and Renal Cell Carcinomas |
| title_sort | two japanese cases of birt hogg dube syndrome with pulmonary cysts fibrofolliculomas and renal cell carcinomas |
| topic | Fibrofolliculoma Pulmonary cyst Renal cell carcinoma Birt-Hogg-Dubé syndrome |
| url | http://www.karger.com/Article/FullText/358216 |
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