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Open Access 01-12-2015 | Case report

Legius syndrome: case report and review of literature

Authors: Elisa Benelli, Irene Bruno, Chiara Belcaro, Alessandro Ventura, Irene Berti

Published in: Italian Journal of Pediatrics | Issue 1/2015

Abstract

A 8-month-old child was referred to our Dermatologic Unit for suspected Neurofibromatosis type 1 (NF 1), because of the appearance, since few days after birth, of numerous café-au-lait spots (seven larger than 5 mm); no other sign evocative of NF 1 was found. Her family history was remarkable for the presence of multiple café-au-lait spots in the mother, the grandfather and two aunts. The family had been already examined for NF 1, but no sign evocative of the disease was found. We then suspected Legius syndrome, a dominant disease characterized by a mild neurofibromatosis 1 phenotype. The diagnosis was confirmed by the finding of a mutation in SPRED1 gene, a feedback regulator of RAS/MAPK signaling. Here, we discuss the differential diagnosis of cafè-au-lait spots and we briefly review the existing literature about Legius syndrome.

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Title: Legius syndrome: case report and review of literature
Authors: Elisa Benelli
Irene Bruno
Chiara Belcaro
Alessandro Ventura
Irene Berti
Publication date: 01-12-2015
Publisher: BioMed Central
Published in: Italian Journal of Pediatrics / Issue 1/2015
Electronic ISSN: 1824-7288
DOI: https://doi.org/10.1186/s13052-015-0115-9

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Legius syndrome: case report and review of literature

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