Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome

A 60-year-old man presented to our clinic with a 40-year history of many asymptomatic papules on the face, neck: and upper trunk (Fig. 1). These tumors occurred in association with acrochordon-like papules on the neck and in the axillae. He also had numerous tumors, many of which were painful, on the trunk, buttocks, and extremities; the biopsies of many of them showed lipomas and angiolipomas. These tumors started in his early twenties and have continued to increase in number and size. Past medical history was remarkable for multiple spontaneous pneumothoraces starting at 15 years of age, bullous emphysema in his early twenties, parathyroid adenoma at 50 years of age, and prostatic adenocarcinoma at 47 years of age. The family history was remarkable for two daughters with similar facial papules that had first appeared at about 30 years of age, The daughters were not available for examination. The patient had multiple 3 to 5 mm, skin-colored to white, smooth, dome-shaped papules on the face, neck, and upper trunk (Fig. 1). He had multiple soft, flesh-colored, pedunculated papules, consistent with acrochordons, in the axillae and on the sides of the neck, He also had numerous painful and painless soft nodules and tumors, consistent with lipomas and angiolipomas, on the trunk and extremities. Histopathologic examination of a facial papule showed multiple cystically dilated hair follicles, each of which was encircled by a fibromucinous proliferation of the dermis with loose fibrillary collagen bundles (Pig. 2). Most of the cystic follicles had angular projections of the epithelium extending into the surrounding fibrillary collagen stroma. These features are consistent with fibrofolliculoma. There were also clusters of elongated sebaceous lobules (Pig. 3) at the periphery of the altered stroma, more characteristically seen in trichodiscomas, within the same biopsy specimen. Acrochordon-like lesions were not biopsied.