ReviewMolecular genetics & genomic medicine2018
Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature.
Review in Molecular genetics & genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 21 citations in OpenAlex.
- Hyperactivation of mTORC1 signaling mediates folliculin deficiency-induced pulmonary cyst formation in Birt-Hogg-Dubé syndrome.The Journal of clinical investigation · 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
- Trends in pulmonary function in patients with Birt-Hogg-Dubé syndrome: a retrospective cohort study.European clinical respiratory journal · 2025Article
- Folliculin gene-negative Birt-Hogg-Dube syndrome: a case report.Annals of medicine and surgery (2012) · 2024Article
- An evidence-based review of primary spontaneous pneumothorax in the adolescent population.Journal of the American College of Emergency Physicians open · 2021Review
- Prevalence of Birt-Hogg-Dubé Syndrome Determined Through Epidemiological Data on Spontaneous Pneumothorax and Bayes Theorem.Frontiers in medicine · 2021Article
- Birt-Hogg-Dubé syndrome.European respiratory review : an official journal of the European Respiratory Society · 2020Article
- Loss of FLCN inhibits canonical WNT signaling via TFE3.Human molecular genetics · 2019Article
- Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature.Molecular genetics & genomic medicine · 2018Review
- Recommendations on scuba diving in Birt-Hogg-Dubé syndrome.Expert review of respiratory medicineReview
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBirt-Hogg-Dubé syndrome (BHD) is an autosomal dominantly inherited cancer predisposition syndrome associated with an increased risk of spontaneous pneumothorax (SP) and renal cell carcinoma in the adult population. Recent studies suggest that BHD accounts for up to 10% of all SP in adults and BHD in children with SP have been reported.
methodsTo explore to what extent BHD is the cause of childhood pneumothorax, we studied a Danish BHD cohort consisting of 109 cases from 22 families. Clinical data was gathered by review of medical records. A systematic literature search concerning childhood and adolescence pneumothorax in BHD was performed and identified publications reviewed.
resultsIn our cohort, three of 109 BHD cases experienced childhood pneumothorax, corresponding to a prevalence of 3%. Reviewing the literature, data regarding more than 800 BHD cases were covered. Only seven previously published cases of childhood pneumothorax in BHD were identified.
conclusionOur findings suggest that BHD is likely the cause of a larger subset of childhood pneumothoraces than hitherto recognized. Awareness of BHD as a cause of childhood pneumothorax needs to be raised to provide patients and relatives with the possibility of specialized management of SP and regular renal cancer surveillance.
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