Birt-Hogg-Dubé Syndrome: Two Patients With Different Initial Presentations

Area of Science:

• Genetics
• Oncology
• Pulmonology

Background:

• Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant genetic disorder.
• It results from germline mutations in the tumor suppressor folliculin gene (FLCN).
• BHD is associated with characteristic skin hamartomas, pulmonary cysts, and renal tumors.

Observation:

• This case series presents two patients with BHD exhibiting distinct initial clinical manifestations.
• Both patients were diagnosed via genetic testing, confirming FLCN mutations.
• The observed symptoms included skin lesions and pulmonary issues, underscoring the varied presentation of BHD.

Findings:

• Genetic analysis confirmed FLCN mutations in both cases, establishing the BHD diagnosis.
• The study highlights the diverse clinical spectrum of BHD, from skin findings to pulmonary complications.
• Renal tumors, including oncocytomas and various renal cell carcinoma subtypes, are a significant concern in BHD patients.

Implications:

• Recognizing the varied clinical signs of BHD is essential for timely diagnosis.
• Genetic testing and counseling are vital for affected individuals and families.
• Regular surveillance imaging is recommended for early detection of renal tumors in BHD patients.