Birt-Hogg-Dube syndrome

Definition:

Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant condition characterized by skin fibrofolliculomas, multiple pulmonary cysts, and renal cancer. Skin lesions usually appear after the age of 20 years with multiple white papules in the midface. The disease is caused by mutations in the FLCN gene coding for folliculin.

References:

[1]. Fred H Menko, et al. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. 2009 Dec;10(12):1199-206. [Content Brief]

[2]. Michael L Nickerson, et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer Cell. 2002 Aug;2(2):157-64. [Content Brief]

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