Birt-Hogg-Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms.

Abstract:

:Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant genodermatosis with malignant potential characterized by cutaneous and extracutaneous stigmata. Aberrations in the folliculin (FLCN) gene, which is located on chromosome 17, have been discovered in individuals with this condition. Over 150 unique mutations have been identified in BHD. The skin lesions associated with this condition include fibrofolliculomas, trichodiscomas, perifollicular fibromas, and acrochordons. Extracutaneous features of the syndrome typically include the lung (spontaneous pneumothorax and cysts) and the kidney (neoplasms). The only malignancies associated with BHD are renal cancers; however, other tumors have been observed in individuals with BHD. In this article, the skin lesions associated with this condition are reviewed, lung and renal manifestations associated with this syndrome are presented, and malignancies occurring in these patients are summarized.

journal_name

Am J Clin Dermatol

authors

Tong Y,Schneider JA,Coda AB,Hata TR,Cohen PR

doi

10.1007/s40257-017-0307-8

subject

Has Abstract

pub_date

2018-02-01 00:00:00

pages

87-101

issue

1

eissn

1175-0561

issn

1179-1888

pii

10.1007/s40257-017-0307-8

journal_volume

19

pub_type

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