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Volume 89
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10.5603/ARM.a2020.0180
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Advances in Respiratory Medicine is published by MDPI from Volume 90 Issue 4 (2022). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with Via Medica.
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Case Report

Birt-Hogg-Dubé Syndrome—An Unique Case Series

by
Parikshit Thakare
,
Ketaki Utpat
,
Unnati Desai
,
Chitra Nayak
and
Jyotsna M. Joshi
*
Department of Pulmonary Medicine, TN Medical College and BYL Nair Hospital, Mu mbai, India
*
Author to whom correspondence should be addressed.
Adv. Respir. Med. 2021, 89(1), 55-59; https://doi.org/10.5603/ARM.a2020.0180
Submission received: 23 July 2019 / Revised: 9 August 2020 / Accepted: 9 August 2020 / Published: 16 December 2019

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.
Keywords: autosomal dominant; lung cysts; fibrofolliculomas; FLCN gene autosomal dominant; lung cysts; fibrofolliculomas; FLCN gene

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MDPI and ACS Style

Thakare, P.; Utpat, K.; Desai, U.; Nayak, C.; Joshi, J.M. Birt-Hogg-Dubé Syndrome—An Unique Case Series. Adv. Respir. Med. 2021, 89, 55-59. https://doi.org/10.5603/ARM.a2020.0180

AMA Style

Thakare P, Utpat K, Desai U, Nayak C, Joshi JM. Birt-Hogg-Dubé Syndrome—An Unique Case Series. Advances in Respiratory Medicine. 2021; 89(1):55-59. https://doi.org/10.5603/ARM.a2020.0180

Chicago/Turabian Style

Thakare, Parikshit, Ketaki Utpat, Unnati Desai, Chitra Nayak, and Jyotsna M. Joshi. 2021. "Birt-Hogg-Dubé Syndrome—An Unique Case Series" Advances in Respiratory Medicine 89, no. 1: 55-59. https://doi.org/10.5603/ARM.a2020.0180

APA Style

Thakare, P., Utpat, K., Desai, U., Nayak, C., & Joshi, J. M. (2021). Birt-Hogg-Dubé Syndrome—An Unique Case Series. Advances in Respiratory Medicine, 89(1), 55-59. https://doi.org/10.5603/ARM.a2020.0180

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