Genetic Study in a Case of Birt-Hogg-Dube Syndrome
Annals of Dermatology
;
: S188-S192, 2011.
Article
in English
| WPRIM
| ID: wpr-200937
ABSTRACT
Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominantly inherited disorder characterized by multiple trichodiscomas, fibrofolliculomas, and acrocordons. There is also an increased risk of developing renal neoplasms and lung cysts/spontaneous pneumothorax. We present a 43-year-old man with multiple, 2~4 mm sized, dome-shaped, and skin-colored papules on his cheek and neck. On the basis of clinical finding and histopathologic examination on the cheek lesion, it was diagnosed as multiple trichodiscomas. Subsequently, molecular analysis revealed a mutation in the folliculin gene. We report a rare case of BHDS with a proved gene mutation.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pneumothorax
/
Cheek
/
Estrone
/
Birt-Hogg-Dube Syndrome
/
Kidney Neoplasms
/
Lung
/
Neck
Limits:
Adult
/
Humans
Language:
English
Journal:
Annals of Dermatology
Year:
2011
Type:
Article
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