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Ahead of Print
Case report
Published online: 2020-12-16
Submitted: 2019-07-23
Accepted: 2020-08-09
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Birt-Hogg-Dubé syndrome — an unique case series

Parikshit Haridas Thakare, Ketaki Utpat, Unnati Desai, Jyotsna Joshi, Chitra Nayak
DOI: 10.5603/ARM.a2020.0180

open access

Ahead of Print
CASE REPORTS
Published online: 2020-12-16
Submitted: 2019-07-23
Accepted: 2020-08-09

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

Ahead of Print

Article type

Case report

Published online

2020-12-16

DOI

10.5603/ARM.a2020.0180

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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