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 Iacovino
Secondo
;
Fabiana Mallone;Antonietta Moramarco
Penultimo
;
Sandra Giustini
Ultimo
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.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11573/1474713
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