Neurofibromatosis tipo 1. Más allá de las manchas café con leche: ¿es necesario actualizar criterios? / Neurofibromatosis type 1. Beyond to café-au-lait spots: necessary update criteria?
Rev. Hosp. Clin. Univ. Chile
;
33(1): 21-27, 2022. tab, ilus
Artículo
en Español
| LILACS
| ID: biblio-1401531
ABSTRACT
Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome. Diagnosis is based on clinical findings that meets the criteria developed by the NIH in 1997, which remain highly sensitive and specific in adults, but not in children, in which the manifestations vary with age. In children under 2 years in the pretumoral stage with a negative family history, it would be useful to have additional clinical diagnostic criteria. Genetic testing is not widely available and although café-au-lait spots remain the cardinal and most frequent clinical sign, they cannot make the diagnosis of NF-1 on their own. (AU)
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Neurofibromatosis 1
Tipo de estudio:
Estudio diagnóstico
Límite:
Adolescente
/
Child, preschool
/
Humanos
/
Masculino
Idioma:
Español
Revista:
Rev. Hosp. Clin. Univ. Chile
Asunto de la revista:
Medicina
Año:
2022
Tipo del documento:
Artículo
País de afiliación:
Chile
Institución/País de afiliación:
Hospital Luis Calvo Mackenna/CL
/
Universidad de Chile/CL
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