Birt-Hogg-Dube Syndrome, a Rare Case in Korea Confirmed by Genetic Analysis.
10.5021/ad.2011.23.S2.S193
- Author:
Won Woong SHIN
1
;
Yoo Sang BAEK
;
Tae Seok OH
;
Young Soo HEO
;
Soo Bin SON
;
Chil Hwan OH
;
Hae Jun SONG
Author Information
1. Department of Dermatology, College of Medicine, Korea University, Seoul, Korea. hjsongmd@gmail.com
- Publication Type:Case Report
- Keywords:
Birt-Hogg-Dube syndrome;
Fibrofolliculoma;
Folliculin
- MeSH:
Birt-Hogg-Dube Syndrome;
Estrone;
Humans;
Kidney Neoplasms;
Korea;
Lung;
Pneumothorax;
Skin;
Thorax
- From:Annals of Dermatology
2011;23(Suppl 2):S193-S196
- CountryRepublic of Korea
- Language:English
-
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-Dube 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.
