Testing could be indicated for individuals with either 1 major clinical feature or 2 or more minor features of BHD syndrome.1
At least 5 fibrofolliculomas or trichodiscomas, at least 1 histologically confirmed, of adult onset
Multiple lung cysts: bilateral basally located lung cysts with no other apparent cause, with or without spontaneous primary pneumothorax
Renal cancer: early onset (<50 years) or multifocal or bilateral renal cancer, or renal cancer of mixed chromophobe and oncocytic histology
A first-degree relative with BHD
Informed consent following genetic counseling is strongly recommended. Whenever possible, consider testing the person in the family with the youngest age at the time of diagnosis of renal tumors, pulmonary cysts, spontaneous pneumothorax, or cutaneous lesions.