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Review
. 2015 Feb 8:41:8.
doi: 10.1186/s13052-015-0115-9.

Legius syndrome: case report and review of literature

Elisa Benelli  1 , Irene Bruno  2 , Chiara Belcaro  3 , Alessandro Ventura  4   5 , Irene Berti  6
Affiliations
Review

Legius syndrome: case report and review of literature

Elisa Benelli et al. Ital J Pediatr. .

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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Figures

Figure 1
Figure 1
Some of the child café-au-lait macules.
Figure 2
Figure 2
The child’s family tree. N.1: the patient (a 8-month-old female child) had multiple cafè-au-lait spots; n. 2 – 3 – 4–5: two aunts, the mother and the grandfather had multiple cafè-au-lait spots; n.4: the youngest aunt had also inguinal freckles and in the past had suffered of epilepsy and mild scholar learning disabilities.
Figure 3
Figure 3
One of the mother’s café-au-lait macules.
See this image and copyright information in PMC

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Supplementary concepts