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 language | English |
|---|---|
| Journal | Annals of Dermatology |
| Volume | 23 |
| Issue number | SUPPL. 2 |
| Publication status | Published - 2011 Oct 1 |
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Keywords
- Birt-Hogg-Dubé syndrome
- Fibrofolliculoma
- Folliculin
ASJC Scopus subject areas
- Dermatology
Cite this
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 journal › Article
}
TY - JOUR
T1 - Birt-Hogg-Dubé syndrome, a rare case in Korea confirmed by genetic analysis
AU - Shin, Won Woong
AU - Baek, Yoo Sang
AU - Oh, Tae Seok
AU - Heo, Young Soo
AU - Son, Soo Bin
AU - Oh, Chil Hwan
AU - Song, Hae Jun
PY - 2011/10/1
Y1 - 2011/10/1
N2 - 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.
AB - 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.
KW - Birt-Hogg-Dubé syndrome
KW - Fibrofolliculoma
KW - Folliculin
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UR - http://www.scopus.com/inward/citedby.url?scp=82555169340&partnerID=8YFLogxK
M3 - Article
AN - SCOPUS:82555169340
VL - 23
JO - Annals of Dermatology
JF - Annals of Dermatology
SN - 1013-9087
IS - SUPPL. 2
ER -