Schwannomatosis is a syndrome characterized by presence of schwannomas in the absence of bilateral vestibular schwannomas and meningiomas. Schwannomas interest frequently peripheral nerves (90%) and spinal nerves (75%). Schwannomatosis are generally sporadic; in 15 - 25% are familiar. The genes involved are SMARCB1 (40-50% of familial) and LZTR1. The reported phenotype continues to expand and evolve. We report the case of a patient with Schwannomatosis and Lisch nodules, typical manifestation of NF1.
Lisch nodules in Schwannomatosis: a new manifestation / Miraglia, Emanuele; Iacovino, Chiara; Corbo, Giovanni; Mallone, Fabiana; Moramarco, Antonietta; Giustini, Sandra. - In: ACTA SCIENTIFIC OPHTHALMOLOGY. - ISSN 2582-3191. - 3(2020).
Lisch nodules in Schwannomatosis: a new manifestation
Chiara IacovinoSecondo
;Fabiana Mallone;Antonietta MoramarcoPenultimo
;Sandra GiustiniUltimo
2020
Abstract
Schwannomatosis is a syndrome characterized by presence of schwannomas in the absence of bilateral vestibular schwannomas and meningiomas. Schwannomas interest frequently peripheral nerves (90%) and spinal nerves (75%). Schwannomatosis are generally sporadic; in 15 - 25% are familiar. The genes involved are SMARCB1 (40-50% of familial) and LZTR1. The reported phenotype continues to expand and evolve. We report the case of a patient with Schwannomatosis and Lisch nodules, typical manifestation of NF1.| File | Dimensione | Formato | |
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