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Case Reports
. 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

Won Woong Shin  1 , Yoo Sang Baek, Tae Seok Oh, Young Soo Heo, Soo Bin Son, Chil Hwan Oh, Hae Jun Song
Affiliations
Case Reports

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

Won Woong Shin et al. Ann Dermatol. 2011 Oct.

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.

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Figures

Fig. 1
Fig. 1
Clinical features of fibrofolliculomas.
Fig. 2
Fig. 2
Histopathology of fibrofolliculoma. (A) H&E stain, ×40. (B) H&E stain, ×100.
Fig. 3
Fig. 3
Imaging studies. (A) Multiple lung cysts found on chest computed tomography. (B) A right renal cyst found on abdominal sonography.
See this image and copyright information in PMC

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