Birt-Hogg-Dube Syndrome, a Rare Case in Korea Confirmed by Genetic Analysis
Annals of Dermatology
;
: S193-S196, 2011.
Article
in English
| WPRIM
| ID: wpr-200936
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pneumothorax
/
Skin
/
Thorax
/
Estrone
/
Birt-Hogg-Dube Syndrome
/
Kidney Neoplasms
/
Korea
/
Lung
Limits:
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Annals of Dermatology
Year:
2011
Type:
Article
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