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 [F] Diseases Research  / PubMed Research Articles  /
Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature.




Molecular genetics & genomic medicine Feb ; ()


Geilswijk M1; Bendstrup E2; Madsen MG3; Sommerlund M4; Skytte AB5;

Author Information
  • 1Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark.
  • 2Department of Respiratory Disease and Allergy, Aarhus University Hospital, Aarhus C, Denmark.
  • 3Department of Urology, Aarhus University Hospital, Aarhus N, Denmark.
  • 4Department of Dermatology, Aarhus University Hospital, Aarhus C, Denmark.
  • 5Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark.


BACKGROUND: Birt-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.

METHODS: To 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.

RESULTS: In 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.

CONCLUSION: Our 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.

© 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.




Publication Type: Journal Article

This article is licensed under the the National Library of Medicine License. It uses material from the PubMed National Library of Medicine Data.

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