Open AccessBirt-Hogg-Dubé Syndrome—An Unique Case Series
Author(s) -
Parikshit Thakare,
Ketaki Utpat,
Unnati Desai,
Jyotsna M Joshi,
Chitra Nayak
Publication year - 2019
Publication title -
advances in respiratory medicine
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.288
H-Index - 18
eISSN - 2543-6031
pISSN - 2451-4934
DOI - 10.5603/arm.a2020.0180
Subject(s) - birt–hogg–dubé syndrome , folliculin , medicine , pneumothorax , lung , renal cell carcinoma , dermatology , pathology , surgery , gene , biology , biochemistry
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.