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

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          Abstract

          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.

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          Most cited references37

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          Birt-Hogg-Dubé syndrome: diagnosis and management.

          Fred H Menko, Maurice Van Steensel, Sophie Giraud … (2009)
          Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancer. The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein is largely unknown, although FLCN has been linked to the mTOR pathway. The availability of DNA-based diagnosis has allowed insight into the great variation in expression of FLCN, both within and between families. Patients can present with skin signs and also with pneumothorax or renal cancer. Preventive measures are aimed mainly at early diagnosis and treatment of renal cancer. This Review gives an overview of current diagnosis and management of BHD.
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            Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons.

            Arthur R. Birt (1977)
            In a sibship of nine, six members had hereditary medullary carcinoma of the thyroid. Two of those with thyroid neoplasms and two without had numerous small papular skin lesions. These proved to be a type of pilar tumor that we named fibrofolliculoma. Further investigation of the total kindred of 70 showed no other evidence of thyroid neoplasm. Skin tumors only appeared after the age of 25 years. Fifteen of 37 members older than the age of 25 years exhibited the typical skin lesions. Obviously, the original sibship was the repository of two dominantly inherited traits. The fibrofolliculoma is characterized by abnormal hair follicles with epithelial strands extending out from the infundibulum of the hair follicle into a hyperplastic mantle of specialized firbrous tissue. Associated skin lesions in this kindred were trichodiscomas and acrochordons.
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              BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports

              J R Toro, M-H Wei, G Glenn … (2008)
              Background: Birt–Hogg–Dubé syndrome (BHDS) (MIM 135150) is an autosomal dominant predisposition to the development of follicular hamartomas (fibrofolliculomas), lung cysts, spontaneous pneumothorax, and kidney neoplasms. Germline mutations in BHD are associated with the susceptibility for BHDS. We previously described 51 BHDS families with BHD germline mutations. Objective: To characterise the BHD mutation spectrum, novel mutations and new clinical features of one previously reported and 50 new families with BHDS. Methods: Direct bidirectional DNA sequencing was used to screen for mutations in the BHD gene, and insertion and deletion mutations were confirmed by subcloning. We analysed evolutionary conservation of folliculin by comparing human against the orthologous sequences. Results: The BHD mutation detection rate was 88% (51/58). Of the 23 different germline mutations identified, 13 were novel consisting of: four splice site, three deletions, two insertions, two nonsense, one deletion/insertion, and one missense mutation. We report the first germline missense mutation in BHD c.1978A>G (K508R) in a patient who presented with bilateral multifocal renal oncocytomas. This mutation occurs in a highly conserved amino acid in folliculin. 10% (5/51) of the families had individuals without histologically confirmed fibrofolliculomas. Of 44 families ascertained on the basis of skin lesions, 18 (41%) had kidney tumours. Patients with a germline BHD mutation and family history of kidney cancer had a statistically significantly increased probability of developing renal tumours compared to patients without a positive family history (p = 0.0032). Similarly, patients with a BHD germline mutation and family history of spontaneous pneumothorax had a significantly increased greater probability of having spontaneous pneumothorax than BHDS patients without a family history of spontaneous pneumothorax (p = 0.011). A comprehensive review of published reports of cases with BHD germline mutation is discussed. Conclusion: BHDS is characterised by a spectrum of mutations, and clinical heterogeneity both among and within families.
              Article 0 comments Cited 130 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                Marianne Geilswijk:
                ORCID: http://orcid.org/0000-0003-3101-3130
                marigeil@rm.dk
                Journal
                Journal ID (nlm-ta): Mol Genet Genomic Med
                Journal ID (iso-abbrev): Mol Genet Genomic Med
                Journal ID (doi): 10.1002/(ISSN)2324-9269
                Journal ID (publisher-id): MGG3
                Title: Molecular Genetics & Genomic Medicine
                Publisher: John Wiley and Sons Inc. (Hoboken )
                ISSN (Electronic): 2324-9269
                Publication date (Electronic): 13 February 2018
                Publication date Collection: May 2018
                Volume: 6
                Issue: 3 ( doiID: 10.1002/mgg3.2018.6.issue-3 )
                Pages: 332-338
                Affiliations
                [ 1 ] Department of Clinical Genetics Aarhus University Hospital Aarhus N Denmark
                [ 2 ] Department of Respiratory Disease and Allergy Aarhus University Hospital Aarhus C Denmark
                [ 3 ] Department of Urology Aarhus University Hospital Aarhus N Denmark
                [ 4 ] Department of Dermatology Aarhus University Hospital Aarhus C Denmark
                Author notes
                [*] [* ] Correspondence

                Marianne Geilswijk, Department of Clinical Genetics, Aarhus N, Denmark.

                Email: marigeil@ 123456rm.dk

                Author information
                http://orcid.org/0000-0003-3101-3130
                Article
                Publisher ID: MGG3373
                DOI: 10.1002/mgg3.373
                PMC ID: 6014440
                PubMed ID: 29439288
                SO-VID: a0732e88-861d-4fbd-8055-71c41bd95857
                Copyright © © 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
                License:

                This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 08 November 2017
                Date accepted : 09 January 2018
                Page count
                Figures: 0, Tables: 2, Pages: 7, Words: 5317
                Funding
                Funded by: Health Research Fund of Central Denmark Region
                Award ID: R34‐1276
                Categories
                Subject: Original Article
                Subject: Original Articles
                Custom metadata
                source-schema-version-number 2.0
                component-id mgg3373
                cover-date May 2018
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_NLMPMC version:version=5.4.3 mode:remove_FC converted:05.07.2018

                Keywords: birt‐hogg‐dubé syndrome,pediatrics,renal cell carcinoma,spontaneous pneumothorax
                Data availability:
                Keywords: birt‐hogg‐dubé syndrome, pediatrics, renal cell carcinoma, spontaneous pneumothorax

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