Conditions / Skin
Birt-Hogg-Dube syndrome
info · Skin
A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11.
Signs and symptoms
- Fibrofolliculoma
- Renal cell carcinoma
- Spontaneous pneumothorax
- Multiple lipomas
- Large intestinal polyposis
- Renal cyst
- Multiple pulmonary cysts
- Renal neoplasm
- Trichodiscoma
- Sebaceous hyperplasia