Neurofibromatosis central Q85.0

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 25.11.2022

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Synonym(s)

Neurofibromatosis type II

Definition
This section has been translated automatically.

Leading clinical sign is uni- or bilateral acoustic neuromas (hearing loss often as first symptom at 20-30 years), which occur in almost all gene carriers; café-au-lait spots are found in about 50% of cases, neurofibromas in about 20% of cases.

Notice. No Lisch nodules as an important differential diagnostic sign to differentiate peripheral neurofibromatosis.

Literature
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  1. Hattori S et al (1996) [Heterogeneity of GTPase-activating proteins for Ras in the regulation of Ras signal transduction pathway. Yakugaku Zasshi 116: 21-38.
  2. Ko JM et al (2013) Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. Pediatr Neurol 48:447-453.
  3. Pećina-Šlaus N (2013) Merlin, the NF2 gene product. Pathol Oncol Res 19:365-373.
  4. Sabbagh A et al. (2013) NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Hum Mutat 34:1510-1518.

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 25.11.2022