Genetic Study in a Case of Birt-Hogg-Dube Syndrome.
10.5021/ad.2011.23.S2.S188
- Author:
Geon PARK
1
;
Hae Ryun KIM
;
Chan Ho NA
;
Kyu Chul CHOI
;
Bong Seok SHIN
Author Information
1. Department of Dermatology, School of Medicine, Chosun University, Gwangju, Korea. derm75@hanmail.net
- Publication Type:Case Report
- Keywords:
Birt-Hogg-Dube syndrome;
Fibrofolliculomas;
Trichodiscomas
- MeSH:
Adult;
Birt-Hogg-Dube Syndrome;
Cheek;
Estrone;
Humans;
Kidney Neoplasms;
Lung;
Neck;
Pneumothorax
- From:Annals of Dermatology
2011;23(Suppl 2):S188-S192
- CountryRepublic of Korea
- Language:English
-
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.
