Birt-Hogg-Dubé Syndrome.

Abstract:

: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.

journal_name

Int J Dermatol

authors

Welsch MJ,Krunic A,Medenica MM

doi

10.1111/j.1365-4632.2004.02095.x

subject

Has Abstract

pub_date

2005-08-01 00:00:00

pages

668-73

issue

8

eissn

0011-9059

issn

1365-4632

pii

IJD2095

journal_volume

44

pub_type

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