Birt–Hogg–Dubé Syndrome: A Histopathological Pitfall With Similarities to Tuberous Sclerosis
Studysummary This article reports on three new cases of Birt–Hogg–Dubé Syndrome and emphasizes the role of genetic analysis in its diagnosis due to clinical challenges.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
Birt–Hogg–Dubé Syndrome (BHD) was a rare autosomal-dominant condition caused by a mutation in the BHD gene on chromosome 17p, encoding folliculin (FLCN). The syndrome was characterized by benign skin tumors, spontaneous pneumothorax from lung cysts, and an increased risk of kidney tumors. This report detailed 3 new cases, emphasizing the importance of genetic analysis for accurate diagnosis due to clinical similarities with tuberous sclerosis complex. Correct diagnosis was crucial for patient management and could be life-saving.
