@article {7776,
	title = {Legius syndrome: case report and review of literature.},
	journal = {Ital J Pediatr},
	volume = {41},
	year = {2015},
	month = {2015},
	pages = {8},
	abstract = {<p>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 caf{\'e}-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 caf{\'e}-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 caf{\`e}-au-lait spots and we briefly review the existing literature about Legius syndrome.</p>},
	issn = {1824-7288},
	doi = {10.1186/s13052-015-0115-9},
	author = {Benelli, Elisa and Bruno, Irene and Belcaro, Chiara and Ventura, Alessandro and Berti, Irene}
}
