FLCN

Clinical Characteristics

Face
•    Facial papules
Lung
•    Lung cysts (in about 30-100% of patients)
•    Spontaneous pneumothorax (in about 80% of patients)
Gi tract
•    Colonic polyps
•    Colorectal adenomas
Kidneys
•    Renal tumors (in about 27% of patients)
•    Renal cysts
Skin, nails, & hair
Skin
•    Fibrofolliculomas
•    Acrochordons (skin tag)
Hair
•    Trichodiscomas (tumor of the hair disc)
Neoplasia
•    Renal carcinoma
•    Parotid oncocytomas
•    Neural tissue tumors
•    Lipomas
•    Angiolipomas

Primary spontaneous pneumothorax (MIM 173600) is an allelic disorder that may represent a milder part of the clinical spectrum of the BHD syndrome.
BHD is similar to, but histologically and genetically distinct from, familial multiple discoid fibromas (FMDF; MIM 190340).