neurofibromatosis

• Autosomal-dominant vererbte genetische Erkrankung, die durch die Entwicklung multipler Neurofibrome, Hautflecken und häufig mit Entwicklungsstörungen einhergeht.

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

unzählbar

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.

   Genetische Erkrankung

   • 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.