open access

Vol 89, No 1 (2021)
Case report
Submitted: 2019-07-23
Accepted: 2020-08-09
Published online: 2020-12-16
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Birt-Hogg-Dubé syndrome — an unique case series

Parikshit Haridas Thakare1, Ketaki Utpat1, Unnati Desai1, Jyotsna Joshi1, Chitra Nayak1
DOI: 10.5603/ARM.a2020.0180
·
Pubmed: 33471358
·
Adv Respir Med 2021;89(1):55-59.
Affiliations
  1. Department of Pulmonary Medicine, TN Medical College and BYL Nair Hospital, Mumbai, India

open access

Vol 89, No 1 (2021)
CASE REPORTS
Submitted: 2019-07-23
Accepted: 2020-08-09
Published online: 2020-12-16

Abstract

Birt-Hogg-Dubé syndrome (BHDS) is an uncommon autosomal dominant syndrome. It is also known as Hornstein–Knickenberg syndrome. It is an inherited disorder culminating in mutations in folliculin coding gene (FLCN). The clinical exhibitions of the syn-drome are multi-systemic, comprising of a constellation of pulmonary, dermatologic and renal system manifestations. The most common presentations include fibrofolliculomas, renal cell carcinomas, lung cysts and spontaneous pneumothorax. The treatment is conservative with regular monitoring of the renal and lung parameters. Fibrofolliculomas may require surgical excision and recurrent events of pneumothorax may warrant pleurodesis. We reported a case series of 2 patients presenting with symptoms of progressive breathlessness along with dermatological manifestations and subsequently showing radiological manifestations of Birt-Hogg-Dubé syndrome in the form of lung cysts.

Abstract

Birt-Hogg-Dubé syndrome (BHDS) is an uncommon autosomal dominant syndrome. It is also known as Hornstein–Knickenberg syndrome. It is an inherited disorder culminating in mutations in folliculin coding gene (FLCN). The clinical exhibitions of the syn-drome are multi-systemic, comprising of a constellation of pulmonary, dermatologic and renal system manifestations. The most common presentations include fibrofolliculomas, renal cell carcinomas, lung cysts and spontaneous pneumothorax. The treatment is conservative with regular monitoring of the renal and lung parameters. Fibrofolliculomas may require surgical excision and recurrent events of pneumothorax may warrant pleurodesis. We reported a case series of 2 patients presenting with symptoms of progressive breathlessness along with dermatological manifestations and subsequently showing radiological manifestations of Birt-Hogg-Dubé syndrome in the form of lung cysts.

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Keywords

autosomal dominant; lung cysts; fibrofolliculomas; FLCN gene

About this article
Title

Birt-Hogg-Dubé syndrome — an unique case series

Journal

Advances in Respiratory Medicine

Issue

Vol 89, No 1 (2021)

Article type

Case report

Pages

55-59

Published online

2020-12-16

DOI

10.5603/ARM.a2020.0180

Pubmed

33471358

Bibliographic record

Adv Respir Med 2021;89(1):55-59.

Keywords

autosomal dominant
lung cysts
fibrofolliculomas
FLCN gene

Authors

Parikshit Haridas Thakare
Ketaki Utpat
Unnati Desai
Jyotsna Joshi
Chitra Nayak

References (12)
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  2. Tefekli A, Akkaya AD, Peker K, et al. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol. 1977; 113(12): 1674–1677.
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  8. Roth JS, Rabinowitz AD, Benson M, et al. Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol. 1993; 29(6): 1055–1056.
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  10. Fröhlich BA, Zeitz C, Mátyás G, et al. Novel mutations in the folliculin gene associated with spontaneous pneumothorax. Eur Respir J. 2008; 32(5): 1316–1320.
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