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Annals of Dermatology 2011 Oct; 23(0): S193~S196
Annals of Dermatology 2011 Oct; 23(0): S193~S196

Birt-Hogg-Dubé Syndrome, a Rare Case in Korea Confirmed by Genetic Analysis
Won Woong Shin, Yoo Sang Baek, Tae Seok Oh, Young Soo Heo, Soo Bin Son, Chil Hwan Oh, Hae Jun Song
Department of Dermatology, College of Medicine, Korea University, Seoul, Korea
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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. (Ann Dermatol 23(S2) S193∼S196, 2011)
Annals of Dermatology 2011 Oct; 23(0): S193~S196
Keyword : Birt-Hogg-Dubé syndrome, Fibrofolliculoma, Folliculin
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