ArticleThe Korean journal of internal medicine2019
Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up.
Article in The Korean journal of internal medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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24 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- The prevalence of spontaneous pneumothorax in patients with BHD syndrome: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2025Pooled it
- A Multicenter Registry for Rare Interstitial Lung Diseases in Korea: Baseline Characteristics and Clinical Outcomes.Tuberculosis and respiratory diseases · 2026Article
- Natural History of Rare Tumor Risk Syndromes: A Scoping Review to Inform Cost-Effectiveness Models.Journal of health economics and outcomes research · 2026Article
- First Description of Bilateral Lung Transplantation in Patient with Birt-Hogg-Dubé Syndrome: A Case Report and Surgical Feasibility Insight.Life (Basel, Switzerland) · 2025Article
- Clinical and genetic investigations of five Chinese families with Birt-Hogg-Dubé syndrome: a long-term follow-up study.Frontiers in medicine · 2025Article
- Trends in pulmonary function in patients with Birt-Hogg-Dubé syndrome: a retrospective cohort study.European clinical respiratory journal · 2025Article
- Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region.Orphanet journal of rare diseases · 2024Article
- Familial pulmonary cysts: A clue to diagnose Birt-Hogg-Dubé syndrome: A case report and literature review.Respirology case reports · 2024Article
- Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea.Diagnostics (Basel, Switzerland) · 2023Article
- Heterozygous germline FLCN mutation in Birt-Hogg-Dubé syndrome with bilateral renal hybrid oncocytic/chromophobe tumor and unilateral renal chromophobe cell carcinoma: a case report.Journal of cancer research and clinical oncology · 2023Article
- Progression of pulmonary cysts in Birt-Hogg-Dubé syndrome: longitudinal thoracic computed tomography study with quantitative assessment.BMC pulmonary medicine · 2023Article
- Birt-Hogg-Dubé Syndrome: Diagnostic Journey of Three Cases from Skin to Gene.Annals of dermatology · 2022Article
- A novelRespiratory medicine case reports · 2022Article
- Bibliometric Analysis of Birt-Hogg-Dubé Syndrome From 2001 to 2021.Frontiers in medicine · 2022Article
- A rare occurrence of a hereditary Birt-Hogg-Dubé syndrome: A case report.World journal of clinical cases · 2021Article
- Novel folliculin gene mutations in Polish patients with Birt-Hogg-Dubé syndrome.Orphanet journal of rare diseases · 2021Article
- Birt-Hogg-Dubé syndrome in Chinese patients: a literature review of 120 families.Orphanet journal of rare diseases · 2021Review
- Prevalence of Birt-Hogg-Dubé Syndrome Determined Through Epidemiological Data on Spontaneous Pneumothorax and Bayes Theorem.Frontiers in medicine · 2021Article
- 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
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7 authors at 2 institutions in 1 country.
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Abstract
BACKGROUND/
aimsBirt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder that is characterized by skin fibrofolliculomas, pulmonary cysts, and renal tumors. The objective of this study was to describe the features of Korean patients with BHD syndrome.
methodsClinical data were retrospectively reviewed in 12 patients (10 confirmed by direct sequencing of the folliculin (FLCN) gene and two confirmed by clinical diagnosis) diagnosed from 2004 to 2016 at Asan Medical Center, Seoul, South Korea. Criteria proposed by the European BHD consortium were used for diagnosis.
resultsThe median follow-up was 52 months. The mean age was 41.3 years and 66.7% were female. Eight patients (66.7%) had a history of pneumothorax, which was recurrent in 75%. Skin lesions were detected in 25.0% and renal cancer in 25.0%. Among mutations of the FLCN gene, the duplication of cytosine in the C8 tract of exon 11 (c.1285dupC) was the most common (40%); however, a novel heterozygous sequence variant of c.31T>C (p.C11R) in exon 4 was detected in one patient. All patients had multiple and bilateral pulmonary cysts, distributed in predominantly lower, peripheral and subpleural regions of the lungs. Most patients showed preserved lung function that remained unchanged during follow-up, and two (16.7%) developed cancers (renal cancer in one and breast cancer in one).
conclusionOur data suggest that Korean patients with BHD syndrome may have a higher risk of pneumothorax, less frequent skin lesions, and a novel FLCN mutation compared to previous reports. Multiple bilateral and basal-predominant cysts were the most common radiologic features.
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