Send to

Choose Destination
Int J Dermatol. 2005 Aug;44(8):668-73.

Birt-Hogg-Dubé Syndrome.

Author information

University of Chicago, Department of Medicine - Section of Dermatology, IL 60637, USA.


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.

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center