neurofibromatosis

• Doença genética autossômica dominante caracterizada pelo desenvolvimento de múltiplos neurofibromas, manchas cutâneas (café-au-lait) e frequentemente associada a anomalias do desenvolvimento.

An autosomal dominant genetic disorder characterized by the development of multiple neurofibromas, skin spots, and often associated with developmental abnormalities.

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1. Genetic disorderC2formalmedical

   An autosomal dominant genetic condition characterized by the growth of noncancerous tumors (neurofibromas) along nerves, skin spots (café-au-lait spots), and sometimes developmental abnormalities.

   Doença genética

   • Neurofibromatosis is often diagnosed in childhood due to the appearance of café-au-lait spots.
   • Patients with neurofibromatosis may develop multiple neurofibromas on their skin.
   • Genetic testing can confirm a diagnosis of neurofibromatosis.