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
JournalAnnals of Dermatology
Volume23
Issue numberSUPPL. 2
Publication statusPublished - 2011 Oct 1

Fingerprint

Korea
Estrone
Pneumothorax
Cysts
Genes
Neoplasms
Lung
Skin
Kidney Neoplasms
Exons
Thorax
Nucleotides
Tomography
Mutation
Mortality

Keywords

  • Birt-Hogg-Dubé syndrome
  • Fibrofolliculoma
  • Folliculin

ASJC Scopus subject areas

  • Dermatology

Cite this

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).

Birt-Hogg-Dubé syndrome, a rare case in Korea confirmed by genetic analysis. / Shin, Won Woong; Baek, Yoo Sang; Oh, Tae Seok; Heo, Young Soo; Son, Soo Bin; Oh, Chil Hwan; Song, Hae Jun.

In: Annals of Dermatology, Vol. 23, No. SUPPL. 2, 01.10.2011.

Research output: Contribution to journalArticle

Shin, WW, Baek, YS, Oh, TS, Heo, YS, Son, SB, Oh, CH & Song, HJ 2011, 'Birt-Hogg-Dubé syndrome, a rare case in Korea confirmed by genetic analysis', Annals of Dermatology, vol. 23, no. SUPPL. 2.
Shin WW, Baek YS, Oh TS, Heo YS, Son SB, Oh CH et al. Birt-Hogg-Dubé syndrome, a rare case in Korea confirmed by genetic analysis. Annals of Dermatology. 2011 Oct 1;23(SUPPL. 2).
Shin, Won Woong ; Baek, Yoo Sang ; Oh, Tae Seok ; Heo, Young Soo ; Son, Soo Bin ; Oh, Chil Hwan ; Song, Hae Jun. / Birt-Hogg-Dubé syndrome, a rare case in Korea confirmed by genetic analysis. In: Annals of Dermatology. 2011 ; Vol. 23, No. SUPPL. 2.
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