Format

Send to:

Choose Destination
See comment in PubMed Commons below
Ann Dermatol. 2011 Oct;23(Suppl 2):S193-6. doi: 10.5021/ad.2011.23.S2.S193. Epub 2011 Oct 31.

Birt-hogg-dubé syndrome, a rare case in Korea confirmed by genetic analysis.

Author information

  • 1Department of Dermatology, College of Medicine, Korea University, Seoul, Korea.

Abstract

Simple benign tumors can present as part of a syndrome with substantial mortality. Fibrofolliculomas are benign skin tumors most often associated with the Birt-Hogg-Dubé syndrome (BHDS). The most life-threatening complication of this syndrome is renal cancer and other major features include multiple lung cysts and spontaneous pneumothorax. We present the case of a 54 year-old man with multiple flesh-colored papules on his face confirmed histologically as fibrofolliculomas. He had a history of recurrent pneumothorax and chest computed tomography showed multiple lung cysts. To confirm the diagnosis of BHDS, we conducted gene analysis that revealed a single nucleotide duplication in the folliculin (FLCN) gene (Exon 11, C.1285dupC). BHDS confirmed by the FLCN gene mutation is rarely reported in Korea. Appropriate investigation is recommended whenever a patient with benign skin tumors is encountered.

KEYWORDS:

Birt-Hogg-Dubé syndrome; Fibrofolliculoma; Folliculin

PMID:
22148048
[PubMed]
PMCID:
PMC3229063
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Korean Dermatological Association Icon for PubMed Central
    Loading ...
    Write to the Help Desk