ArticlePloS one2022
Epidemiology and clinical features of Birt-Hogg-Dubé syndrome: A nationwide population-based study in South Korea.
Article in PloS one, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
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Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- The prevalence of spontaneous pneumothorax in patients with BHD syndrome: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2025Pooled it
- A Possible Association of Salivary Gland Tumors and Oral Lesions with Birt-Hogg-Dube Syndrome: A Systematic Review.Head and neck pathology · 2024Pooled it
- A Multicenter Registry for Rare Interstitial Lung Diseases in Korea: Baseline Characteristics and Clinical Outcomes.Tuberculosis and respiratory diseases · 2026Article
- Hereditary syndromes and RCC: what radiologists need to know.Abdominal radiology (New York) · 2026Review
- Experience in Molecular Genetic Diagnostics of Birt-Hogg-Dubé Syndrome: Characteristics of Identified Mutations and Evolution of the Methodological Approach.International journal of molecular sciences · 2026Article
- Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome - a matched cohort study.British journal of cancer · 2026Article
- Differential Diagnosis and a Novel Mutation in Birt-Hogg-Dubé Syndrome: Insights from 2 Cases.The American journal of case reports · 2025Article
- Features of Lung Cyst in Birt-Hogg-Dubé Syndrome from Patients with Multiple Lung Cysts.Tuberculosis and respiratory diseases · 2025Article
- Clinical and genetic investigations of five Chinese families with Birt-Hogg-Dubé syndrome: a long-term follow-up study.Frontiers in medicine · 2025Article
- Hereditary Renal Cancer Syndromes.Medical sciences (Basel, Switzerland) · 2024Review
- Folliculin gene-negative Birt-Hogg-Dube syndrome: a case report.Annals of medicine and surgery (2012) · 2024Article
- Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea.Diagnostics (Basel, Switzerland) · 2023Article
- Article
- A novelRespiratory medicine case reports · 2022Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBirt-Hogg-Dubé (BHD) syndrome is an ultrarare lung disease with unclear prevalence and incidence. Our study aimed to identify the epidemiological and clinical features of BHD syndrome by using nationwide claims data from the Korean Health Insurance Review and Assessment service.
methodsPatients with BHD syndrome who had the following criteria were included: 1) tested for folliculin gene mutation, and 2) had at least one of the conditions: other specified malformation syndromes, fibrofolliculoma, acrochordon, lung cyst, cancer, and pneumothorax based on International Classification of Disease-10 code.
resultsWe found 26 patients with BHD syndrome from 2017 to 2019. The prevalence of BHD syndrome was 5.67 per 107 population, with no peak age. Among incidence cases, the median age of diagnosis was 51 years, with slightly more females than males (n = 15, 57.7%). Over half of the patients (n = 14, 53.8%) experienced pneumothorax, and 10 (38.5%) developed malignant neoplasm within the clinical course.
conclusionsThe prevalence of BHD syndrome in Korea is extremely low. However, affected patients manifest several comorbidities, including malignant neoplasm and repetitive pneumothorax.
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