Síndrome de Birt-Hogg-Dubé

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Reporte de caso
Rev Asoc Colomb Dermatol. 2013; 21: 2 (Abril-Junio), 180-183

Síndrome de Birt-Hogg-Dubé

Birt-Hogg-Dubé Syndrome
Autor(es): 
Gérman Montes
gamon23@hotmail.com
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.
Resumen: 

El síndrome de Birt-Hogg-Dubé es un raro trastorno de herencia autosómica dominante, descrito por primera vez en 1977 en varios miembros de una misma familia con múltiples lesiones papulares asintomáticas en cara, cuello y tronco, que correspondían a fibrofoliculomas. Posteriormente, se asoció este síndrome a la presencia de quistes pulmonares basales, neumotórax espontáneo y recurrente, y a cáncer renal. En 2002, se descubrió el gen responsable, ubicado en el cromosoma 17p11.2, el cual se denominó el gen BHD. Dicho gen codifica la foliculina, una proteína de 64 kDa que actúa como supresor tumoral y que se expresa en piel, pulmón y riñón.

Se presenta el caso de un paciente joven con este síndrome y se logró diagnosticar la afección en varios miembros de su familia.

Palabras clave: 
síndrome de Birt-Hogg-Dubé, fibrofoliculoma, fibroma perifolicular, quistes pulmonares.

Summary: 

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.

Key words: 
Birt-Hogg-Dubé syndrome, fibrofolliculoma, perifollicular fibroma, lung cysts.
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Referencias

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PATROCINADORES PRINCIPALES

  • MEDIHEALTH
  • SESDERMA
  • MD FARMACIA MAGISTRAL
  • EPIDERMIQUE
  • ISDIN
  • GALDERMA