Birt-Hogg-Dubé syndrome

Abstract

Introduction: Birt-Hogg-Dubé syndrome is a rare genodermatosis inherited as an autosomal dominant trait. Birt-Hogg-Dubé syndrome was first described in 1977 by three dermatologists, Arthur Birt, Georgina Hogg and William J. Dubé. It is characterised by the development of multiple small white bumps primarily occurring on the face and chest. Birt-Hogg-Dubé syndrome is associate with an increased risk or pneumothorax, pulmonary cysts, and renal tumours. The disorder is caused by mutations in the FLCN gene, which encodes folliculin. Cas report: A 50-year-old man presented with multiple yellowish-white papules located on cheeks and forehead. Earlier the patient was hospitalized because of pneumothorax. Diagnostic imaging revealed pulmonary cysts and fibrosis, most likely secondary to previous pneumothorax. Abdominal ultrasound showed no tumours. The diagnosis of Birt-Hogg-Dubé syndrome was established on the basis of clinical evaluation and confirmed by genetic testing. Conclusions: The treatment of fibrofolliculomas in the course of Birt-Hogg-Dubé syndrome usually involves ablative laser therapy. The prognosis is good, although it depends on the patient's general health, especially the severity of respiratory failure and the presence of renal malignancy. Patients with Birt-Hogg-Dubé syndrome require regular follow-up for pulmonary changes and renal tumors.