Case Reports : Genetic Study in a Case of Birt-Hogg-Dube Syndrome

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...

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Bibliographic Details
Published in:Annals of dermatology 2011, Vol.23 (s2), p.188
Main Authors: Geon Park, Hae Ryun Kim, Chan Ho Na, Kyu Chul Choi, Bong Seok Shin
Format: Article
Language:Korean
Subjects:
Birt-Hogg-Dube syndrome
Fibrofolliculomas
Trichodiscomas
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Summary: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. (Ann Dermatol 23(S2) S188~S192, 2011)
ISSN:1013-9087
2005-3894