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
Article
Dans Espagnol
| 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)
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Neurofibromatose de type 1
Type d'étude:
Etude diagnostique
Limites du sujet:
Adolescent
/
Enfant d'âge préscolaire
/
Humains
/
Mâle
langue:
Espagnol
Texte intégral:
Rev. Hosp. Clin. Univ. Chile
Thème du journal:
Médicament
Année:
2022
Type:
Article
Pays d'affiliation:
Chili
Institution/Pays d'affiliation:
Hospital Luis Calvo Mackenna/CL
/
Universidad de Chile/CL
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