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

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)S193-S196
JournalAnnals of Dermatology
Volume23
Issue numberSUPPL. 2
DOIs
Publication statusPublished - 2011 Oct

Keywords

  • Birt-Hogg-Dubé syndrome
  • Fibrofolliculoma
  • Folliculin

ASJC Scopus subject areas

  • Dermatology

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    Shin, W. W., Baek, Y. S., Oh, T. S., Heo, Y. S., Son, S. B., Oh, C. H., & Song, H. J. (2011). Birt-Hogg-Dubé syndrome, a rare case in Korea confirmed by genetic analysis. Annals of Dermatology, 23(SUPPL. 2), S193-S196. https://doi.org/10.5021/ad.2011.23.S2.S193