This is a genotype with recommended actions if clinically confirmed. In brief:
- Birt-Hogg-Dubé syndrome (BHDS) is a rare condition characterized by renal tumors of varying histologic subtypes, cutaneous benign tumors of the hair follicle (fibrofolliculomas), and pulmonary cysts. It is due to certain mutations in the FLCN gene.
- Beginning at age 18 years, or later when a BHDS diagnosis is established, annual MRI of the kidneys is optimal to assess for lesions.
- Full body skin examination at routine intervals to evaluate any suspicious pigmented lesions for melanoma should be considered.
- Cigarette smoking, high ambient pressures, which may precipitate spontaneous pneumothorax, and radiation exposure should be avoided.
The full ClinGen Actionability report about Birt-Hogg-Dube Syndrome (BHDS) can be found
here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
