Birt-Hogg-Dubé Syndrome
Keywords:
Birt-Hogg-Dubé, Birt-Hogg-Dubé syndrome, fibrofolliculoma, perifollicular fibroma, lung cysts.Abstract
The Birt-Hogg-Dubé syndrome is a rare autosomal dominant disorder first described in 1977 in several members of a family with multiple asymptomatic papular lesions on the face, neck and trunk that were consistent with fibrofolliculomas. Later on, this syndrome was associated with the presence of basal lung cysts, spontaneous and recurrent pneumothorax, and kidney cancer. In 2002 the responsible gene was discovered, located on chromosome 17p11.2 which is called the BHD gene. This gene encodes folliculin, a 64 kDa protein that acts as a tumor suppressor and that is expressed in the skin, lungs and kidneys. We report the case of a young patient with this syndrome who had several relatives with the same condition.
Author Biographies
Gérman Montes
Médico, residente de Dermatología, Universidad de Caldas, Manizales, Colombia
Ana María Hoyos
Médica dermatóloga; docente, Posgrado en Dermatología, Universidad de Caldas, Manizales, Colombia
Felipe Jaramillo-Ayerbe
Médico dermatólogo, dermatopatólogo; director, Posgrado de Dermatología, Universidad de Caldas, Manizales, Colombia.
References
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