Neurofibromatosis Tipo 1 (enfermedad de von Recklinghausen): Reporte de 2 casos

Julio César Salas Alanís, Rafael De La Garza Ramos., Rodrigo Cepeda-Valdés

Producción científicarevisión exhaustiva

Resumen

Neurofibromatosis type 1, previously known as von Recklinghausen's Disease, belongs to the family of genodermatosis, and is characterized by café-au-lait macules and neurofibromas. The pathophysiology involves a mutation in the NF1 gene, which codifies for a protein that has a known function as a tumor su- pressor gene. The treatment for this disease is limited, especially when it is disseminated Two cases, a mother and daughter, are presented, both with café-au-lait macules and neurofibromas. Key features of the disease are discussed, with emphasis on the known function of NF1 and its role in the development of neurofibromatosis type 1.
Idioma originalSpanish
Páginas (desde-hasta)268-271
Número de páginas4
PublicaciónDermatologia Cosmetica, Medica y Quirurgica
Volumen9
N.º4
EstadoPublished - 1 oct 2011
Publicado de forma externa

All Science Journal Classification (ASJC) codes

  • Cirugía
  • Dermatología

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