RESUMEN
Introduction: Neurofibromatosis type 1 (NF-1) is anautosomal dominant disorder involving multiple systemsand affects approximately 1 out of 3000 persons. Ocularmanifestations are very rare with lisch nodules, plexiformneurofibroma, optic pathway gliomas.Case report: Here we present a case of teenager boy withneurofibromatosis type 1 presenting with Rare ocular featuresalong with systemic manifestation of the disease.Conclusion: The proper diagnosis of NF-1 is a crucial task fora clinician due to the various clinical manifestations includingvision and life threatening malignancies in few patients, whichmay arise in the different phases of life.
RESUMEN
RESUMEN La neurofibromatosis tipo 1 (NF1) o enfermedad de Von Recklinghausen, es un desorden genético hereditario, que se transmite bajo un patrón autosómico dominante con penetrancia casi del 100%, progresiva, multisistémica con afectación predominante de piel y sistema nervioso. Siendo el más frecuente de los síndromes neurocutáneos. Tiene una incidencia de 1 por cada 3.000 nacimientos a nivel mundial. Las manifestaciones clínico dermatológicas más comunes son: maculas café con leche, nódulos de Lisch y efélides en áreas no foto expuestas. Se reporta el caso de paciente masculino de 8 años de edad, con antecedentes contributorios y rasgos fenotípicos, diagnósticos para la enfermedad.
SUMMARY Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease, is an hereditary genetic disorder with autosomal dominant inheritance and almost 100% of penetrance. Characteristically progressive and multisystemic, with predominant skin and nervous system involvement. It is the most frequent neurocutaneous syndrome with an incidence of 1 per 3,000 births worldwide. Usual skin findings include cafe-au-lait macules, neurofibromas and freckles in non-photo exposed areas. We report the case of an 8-year-old male with a contributory family history and diagnostic phenotypic features for this disease.