Fibrofolliculomas and Cystic Lung Disease: Case Report
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Abstract
Birt-Hogg-Dubé syndrome (BHD) is a rare, autosomal dominant genetic disorder characterized by the development of skin lesions, lung cysts, spontaneous pneumothorax and kidney tumors. It results from the mutation in the folliculin gene (FLCN) located on the short arm of chromosome 17 (17p11.2). We present the case of a 63-year-old patient with a 30-year history of fibrofolliculomas and trichofolliculomas on the face and neck, accompanied by lung and kidney cysts. The diagnosis was confirmed by genetic testing, finding a mutation in the FLCN gene. Because it is a rare disease, knowing its clinical manifestations helps to diagnose it and perform adequate follow-up, which is important due to the risk of spontaneous pneumothorax and malignant kidney tumors.
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