birt hogg dube syndrome
- related: cystic lung diseases
- tags: #literature #boards
1.Birt Hogg Dube
2.autosomal dominant inheritance; characterized by 2.cystic lung disease::type of lung disease (90% by adulthood), 2.pneumothoraces (≥25%), 2.skin lesions (fibrofolliculomas)::skin findings, and propensity for 2.renal tumors (particularly chromophobe renal cell carcinoma and oncocytoma)::another organ finding. Surgical lung biopsy will demonstrate emphysema-like lesions without diagnostic features. However, skin biopsy will likely be diagnostic and demonstrate 2.fibrofolliculomas. Genetic testing is not necessary for diagnosis, but can be helpful in some cases.1