Article

Familial Birt-Hogg-Dubé Syndrome diagnosed with the rare FLCN exon 6 mutation: a case series of three related patients

2025-11-24

Abstract excerpt

<title>Abstract</title> <p>Birt-Hogg-Dubé Syndrome (BHDS) is a rare, autosomal dominant genodermatosis characterized by a triad of benign cutaneous lesions, pulmonary cysts or spontaneous pneumothorax, and renal tumors. The clinical presentation is heterogeneous and often underrecognized, leading to diagnostic delays.We present a case series of three genetically related individuals diagnosed with BHDS. All patien...

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Literature Corpus work: 7695a362-b0a5-5ac6-bb77-44d7e9097a37
DOI: 10.21203/rs.3.rs-7899579/v1

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