Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
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.

PubMed Disclaimer

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

References

    1. Leter EM, Koopmans AK, Gille JJ, van Os TA, Vittoz GG, David EF, et al. Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families. J Invest Dermatol. 2008;128:45–49. - PubMed
    1. Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, et al. European BHD Consortium. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. 2009;10:1199–1206. - PubMed
    1. Kim EH, Jeong SY, Kim HJ, Kim YC. A case of Birt-Hogg-Dubé syndrome. J Korean Med Sci. 2008;23:332–335. - PMC - PubMed
    1. Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, et al. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet. 2005;76:1023–1033. - PMC - PubMed
    1. Kunogi M, Kurihara M, Ikegami TS, Kobayashi T, Shindo N, Kumasaka T, et al. Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. J Med Genet. 2010;47:281–287. - PMC - PubMed

Publication types