ArticleCase reports in dermatology2014
Two Japanese cases of birt-hogg-dubé syndrome with pulmonary cysts, fibrofolliculomas, and renal cell carcinomas.
Article in Case reports in dermatology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 23 citations in OpenAlex.
- Characteristic Chest Computed Tomography Findings for Birt-Hogg-Dube Syndrome Indicating Requirement for Genetic Evaluation.Diagnostics (Basel, Switzerland) · 2023Article
- The clinical characteristics of East Asian patients with Birt-Hogg-Dubé syndrome.Annals of translational medicine · 2020Article
- Birt-Hogg-Dubé syndrome.European respiratory review : an official journal of the European Respiratory Society · 2020Article
- Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up.The Korean journal of internal medicine · 2019Article
- Birt-Hogg-Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation.BMC pulmonary medicine · 2017Review
- Novel germline mutations in FLCN gene identified in two Chinese patients with Birt-Hogg-Dubé syndrome.Chinese journal of cancer · 2017Article
- Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans.PloS one · 2017Article
- The Nephrologist's Tumor: Basic Biology and Management of Renal Cell Carcinoma.Journal of the American Society of Nephrology : JASN · 2016Review
- Birt-Hogg-Dubé syndrome detected incidentally by asymptomatic bilateral pneumothorax in health screening: a case of a young Japanese woman.Surgical case reports · 2015Article
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8 authors at 1 institution in 1 country.
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Abstract
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.
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