Case Report of Birt Hogg Dube Syndrome

Abstract

Birt-Hogg-Dube Syndrome (BHDS) is a rare autosomal dominant disorder characterized by fibrofolliculomas, renal tumors, pulmonary cysts and spontaneous pneumothoraces. BHDS is described by Birt et al. in 1977. The other common skin findings are trichodiscoma,perifollicular fibroma and acrochordon. Skin lesions are often located on the nose,forehead,cheek,neck and to a lesser extent on the trunk. The risk of developing renal tumors and pneumothorax increases for patients with BHDS during their lifetime and should be followed in this respect. The diagnosis is made by evaluating clinical findings, histopathological findings, and imaging methods. Ablative laser (erbium-YAG or carbon dioxide), electrocauterization and/or excision is recommended for the treatment of skin lesions. We present a case of BHDS. © 2021 by Türkiye Klinikleri.