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Ital J Pediatr. 2015 Feb 8;41:8. doi: 10.1186/s13052-015-0115-9.

Legius syndrome: case report and review of literature.

Author information

1
University of Trieste, Trieste, Italy. elisa.benelli@gmail.com.
2
Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy. irene.bruno@burlo.trieste.it.
3
University of Trieste, Trieste, Italy. chiara.belcaro@burlo.trieste.it.
4
University of Trieste, Trieste, Italy. alessandro.ventura@burlo.trieste.it.
5
Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy. alessandro.ventura@burlo.trieste.it.
6
Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy. irene.berti@burlo.trieste.it.

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.

PMID:
25883013
PMCID:
PMC4323213
DOI:
10.1186/s13052-015-0115-9
[Indexed for MEDLINE]
Free PMC Article

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