Sequeira QCM, Casares FDA

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ABSTRACT

Neurofibromatosis, today understood as a concept including two different entities (type 1 and type 2), is a genetic disease part of the neurocutaneous syndromes, initially described in 1849 that nowadays remains widely studied due to its complex physiopathology. This mechanism has been partially attributed due to mutations in tumoral suppressor genes, allowing uncontrolled cellular proliferation, producing different benign and cancerous neoplasia that characterized the disease. The clinical picture is complemented by affection of other body systems. Among the tumors that compose this entity are neurofibromas, plexiform neurofibromas, nerve sheath malign tumors, gliomas, schwannomas, meningiomas and ependimomas. The approach to these tumors, consisting principally in image study follow ups, surgery and chemotherapy, is currently not unified by international guidelines by the respective worldwide entities.

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