Genetic Study in a Case of Birt-Hogg-Dube Syndrome
Annals of Dermatology
; : S188-S192, 2011.
Article
в En
| WPRIM
| ID: wpr-200937
Ответственная библиотека:
WPRO
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.
Key words
Полный текст:
1
База данных:
WPRIM
Основная тема:
Pneumothorax
/
Cheek
/
Estrone
/
Birt-Hogg-Dube Syndrome
/
Kidney Neoplasms
/
Lung
/
Neck
Пределы темы:
Adult
/
Humans
Язык:
En
Журнал:
Annals of Dermatology
Год:
2011
Тип:
Article