EN Birt Hogg Dubé syndrome
(BHD, Hornstein-Birt-Hogg-Dubé syndrome, Hornstein-Knickenberg syndrome, fibrofolliculomas with trichodiscomas and acrochordons)
Autosomal dominant genetic disorder, caused by a mutation in the FLCN gene (tumor suppressor gene), which codes for folliculin (a protein that regulates cell-cell adhesion).
The symptoms seen in each family are unique, and can include any combination of the following three symptoms.
Symptoms:
- Fibrofolliculomas (noncancerous tumors of hair follicles): Found on the face and upper trunk in over 80% of patients over 40 years old.
- Pulmonary cysts: Occur in over 80% of patients. About one quarter of patients eventually experience spontaneous pneumothorax (collapsed lung).
- Kidney tumors (both cancerous and benign), renal cysts: Occur in about one quarter of patients.
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