The Birt-Hogg-Dube syndrome: dermatological features and internal malignancies

Abstract

A 56-year-old Caucasian male presented with a fast-growing subcutaneous tumour on the right shoulder over the last 6 months. On examination, this was a mobile and firm tumour of ∼4 cm diameter (Figure 1). The patient was also concerned about cosmetic disfigurement from multiple small facial papules. These had been growing gradually over the last 3 years. The past medical history revealed six episodes of spontaneous pneumothoraces, treated with a right-sided surgical pleurectomy at the age of 28 years, with no recurrence since. Interestingly, his mother had developed identical lesions over her face a few years before she died from an undetermined internal cancer. Figure 1. Distant view of the tumour on the posterior aspect of right thorax ( A ) and at the time of excision ( B ). Examination revealed dozens of firm whitish small papules distributed on his face (Figure 2), neck and upper trunk. Skin biopsies were consistent with the diagnosis of fibrofolliculomas. Figure 2. Confluent dome-shaped papules (fibrofolliculomas) on the face ( A ) and a close-up view of fibrofolliculomas over the right maxillary region and nasolabial fold ( B ). Histopathology of the tumour from the right shoulder showed bland myofibroblastic-looking spindle cells dispersed in …