Birt-Hogg-Dubé Syndrome

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Abstract
IN 1977, BIRT ET AL1 described a kindred in which 15 of 70 members over 3 generations exhibited multiple, small, skin-colored, dome-shaped papules distributed over the face, neck, and upper trunk inherited in an autosomal dominant pattern. Histologic examination of these lesions revealed fibrofolliculomas (FFs), trichodiscomas (TDs), and acrochordons. This triad has become known as Birt-Hogg-Dubé syndrome (BHD).1 Typically, cutaneous lesions of BHD have their onset during the third or fourth decade of life. Since the initial report, several other cases have been described.2-12 The cutaneous manifestations of BHD have been associated with colonic polyps2,3 and a case of renal carcinoma.4 We herein describe 3 kindreds with familial renal tumors in which 13 individuals also had BHD.