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Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature

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Childhood pneumothorax in Birt-Hogg-Dubé syndrome : A cohort study and review of the literature. / Geilswijk, Marianne; Bendstrup, Elisabeth; Madsen, Mia Gebauer; Sommerlund, Mette; Skytte, Anne-Bine.

In: Molecular Genetics & Genomic Medicine, Vol. 6, No. 3, 05.2018, p. 332-338.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

Harvard

Geilswijk, M, Bendstrup, E, Madsen, MG, Sommerlund, M & Skytte, A-B 2018, 'Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature', Molecular Genetics & Genomic Medicine, vol. 6, no. 3, pp. 332-338. https://doi.org/10.1002/mgg3.373

APA

Geilswijk, M., Bendstrup, E., Madsen, M. G., Sommerlund, M., & Skytte, A-B. (2018). Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature. Molecular Genetics & Genomic Medicine, 6(3), 332-338. https://doi.org/10.1002/mgg3.373

CBE

MLA

Geilswijk, Marianne et al. "Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature". Molecular Genetics & Genomic Medicine. 2018, 6(3). 332-338. https://doi.org/10.1002/mgg3.373

Vancouver

Author

Geilswijk, Marianne ; Bendstrup, Elisabeth ; Madsen, Mia Gebauer ; Sommerlund, Mette ; Skytte, Anne-Bine. / Childhood pneumothorax in Birt-Hogg-Dubé syndrome : A cohort study and review of the literature. In: Molecular Genetics & Genomic Medicine. 2018 ; Vol. 6, No. 3. pp. 332-338.

Bibtex

@article{3eda1928e6124fbeb676d16793b30f43,
title = "Childhood pneumothorax in Birt-Hogg-Dub{\'e} syndrome: A cohort study and review of the literature",
abstract = "BACKGROUND: Birt-Hogg-Dub{\'e} 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.",
author = "Marianne Geilswijk and Elisabeth Bendstrup and Madsen, {Mia Gebauer} and Mette Sommerlund and Anne-Bine Skytte",
note = "{\textcopyright} 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.",
year = "2018",
month = may,
doi = "10.1002/mgg3.373",
language = "English",
volume = "6",
pages = "332--338",
journal = "Molecular Genetics & Genomic Medicine",
issn = "2324-9269",
publisher = "JohnWiley & Sons Ltd.",
number = "3",

}

RIS

TY - JOUR

T1 - Childhood pneumothorax in Birt-Hogg-Dubé syndrome

T2 - A cohort study and review of the literature

AU - Geilswijk, Marianne

AU - Bendstrup, Elisabeth

AU - Madsen, Mia Gebauer

AU - Sommerlund, Mette

AU - Skytte, Anne-Bine

N1 - © 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

PY - 2018/5

Y1 - 2018/5

N2 - 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.

AB - 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.

U2 - 10.1002/mgg3.373

DO - 10.1002/mgg3.373

M3 - Journal article

C2 - 29439288

VL - 6

SP - 332

EP - 338

JO - Molecular Genetics & Genomic Medicine

JF - Molecular Genetics & Genomic Medicine

SN - 2324-9269

IS - 3

ER -