Birt-Hogg-Dubé Syndrome.
Birt-Hogg-Dubé Syndrome is an autosomal dominant condition characterized by a triad of fibrofolliculomas, trichodiscomas, and acrochordons. Since the first description in 1977, many conditions have been described in association with its clinical triad. Recent epidemiological studies have shown a significant association between the occurrence of lesions in the fibrofolliculoma/trichodiscoma category with renal neoplasms and pneumothoracies. The BHD protein folliculin had recently been identified. The histological findings of the clinical lesions are distinctive. We report a patient with a history of melanoma who presented for routine surveillance. Facial lesions in the fibrofolliculoma/trichodiscoma category were identified. Diagnostic work-up revealed concomitant multinodular goiter, pulmonary cyst, and renal mass. The patient later developed pneumothorax. Clinical manifestations, histological findings, associations, management, and a review of the Birt-Hogg-Dubé Syndrome are discussed.
Welsch
Michael Jude
MJ
University of Chicago, Department of Medicine - Section of Dermatology, IL 60637, USA. mjudew@hotmail.com
Krunic
Aleksandar
A
Medenica
Maria M
MM
D002292:Carcinoma, Renal Cell / Q000150:complications; D005153:Facial Neoplasms / Q000150:complications / Q000473:pathology* / Q000628:therapy; D006801:Humans; D007680:Kidney Neoplasms / Q000150:complications; D008297:Male; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000150:complications / Q000473:pathology / Q000628:therapy; D011030:Pneumothorax / Q000150:complications; D012878:Skin Neoplasms / Q000150:complications / Q000473:pathology* / Q000628:therapy; D013577:Syndrome