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 journalArticlepeer-review

    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

    Fingerprint

    Dive into the research topics of 'Birt-Hogg-Dubé syndrome, a rare case in Korea confirmed by genetic analysis'. Together they form a unique fingerprint.

    Cite this