Neurofibromatosis central Q85.0

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.

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4. Sabbagh A et al. (2013) NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Hum Mutat 34:1510-1518.