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Not just a cosmetic problem: facial papules in Birt-Hogg-Dubé syndrome

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Clinical record

A 52-year-old man was referred for laser therapy of facial papules for cosmetic reasons. The patient presented with a history of multiple asymptomatic facial lesions that had slowly erupted over a 10-year period. Before this consultation, the patient had been referred to a dermatologist to exclude skin cancer and biopsy of a lesion showed an angiofibroma and no evidence of malignancy. Personal history was remarkable for recurrent bilateral spontaneous pneumothoraces requiring pleurodesis. His family history was positive for recurrent pneumothorax in an adult son and recent onset of similar facial lesions in another son. There was no personal or family history of renal carcinoma.

Physical examination revealed multiple dome-shaped firm whitish papules over the forehead and cheeks (Figure 1 and Figure 2). The clinical presentation of multiple facial fibrous papules occurring on a background of unexplained pneumothoraces was suggestive of the genetic condition, Birt-Hogg-Dubé syndrome (BHD). Repeat punch biopsy of a lesion revealed an infundibulum with perifollicular fibrosis suggestive of a trichodiscoma, supportive of BHD.

The patient was referred to a cancer genetic clinic for counselling, genetic testing and screening. Renal ultrasound revealed a left renal hypoechoic lesion measuring 2.5 ×…