Ann Dermatol.  2011 Oct;23(Suppl 2):S193-S196. 10.5021/ad.2011.23.S2.S193.

Birt-Hogg-Dube Syndrome, a Rare Case in Korea Confirmed by Genetic Analysis

• Shin WW
• Baek YS
• Oh TS
• Heo YS
• Son SB
• Oh CH
• Song HJ

• KMID: 2156787
• DOI: http://doi.org/10.5021/ad.2011.23.S2.S193

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.

Keyword

Birt-Hogg-Dube syndrome; Fibrofolliculoma; Folliculin

MeSH Terms

Birt-Hogg-Dube Syndrome
Estrone
Humans
Kidney Neoplasms
Korea
Lung
Pneumothorax
Skin
Thorax
Estrone

Figure

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  Fig. 1 Clinical features of fibrofolliculomas.

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  Fig. 2 Histopathology of fibrofolliculoma. (A) H&E stain, ×40. (B) H&E stain, ×100.

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  Fig. 3 Imaging studies. (A) Multiple lung cysts found on chest computed tomography. (B) A right renal cyst found on abdominal sonography.

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