Cutaneous fibrofolliculomas as clinical expression of Birt-Hogg-Dubé syndrome: case report

Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominat genodermatosis. The observation of pulmonary cysts in adult age, leading to spontaneous pneumothorax, in association with multiple benign tumors of the pilo-sebaceous complex (fibrofolliculomas, trichodiscomas and acrochordons) and early onset malignant neoplasms, expecially renal carcinoma, is regarded as the typical clinical presentation of the disease. The syndrome is caused by a germline mutation of the FLCN gene, on chromosome 17p; the gene encodes for folliculin, which is speculated to be a tumor suppressor protein. Herein, a rare case of BHD syndrome in a 40-year-old man, with multiple fibrofolliculomas on his face together with personal and familiar history of spontaneous pneumothorax, is reported. Both clinical and histopathological identification of the cutaneous lesions addressed to the assessment of the appropriate genetic analysis, as well as to a specific follow-up. Despite the relatively benign nature of the cutaneous manifestations in BHD syndrome, the clinical finding of multiple fibrofolliculomas with adult age-onset, should be regarded as the expression of a more rare and complex entity, with possible life-threatening complications.