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).
FLCN