Format

Send to

Choose Destination
J Dermatol. 2017 Apr;44(4):459-460. doi: 10.1111/1346-8138.13687. Epub 2016 Nov 5.

Legius syndrome: A case report.

Author information

1
Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Tottori University Faculty of Medicine, Yonago, Japan.
2
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

Abstract

Legius syndrome is a rare genetic disorder caused by heterozygous germ line loss-of-function SPRED1 mutation. In Japan, a family with Legius syndrome was first described in 2015 by Sakai et al. We described a first solitary case of Legius syndrome identified by next-generation sequencing in Japan. A 37-year-old woman presented with multiple café-au-lait macules and freckles but has no other features of neurofibromatosis type 1 (NF-1). Sequencing results showed the presence of a mutation in exon 2 of SPRED1 c.70C>T, resulting in the protein at position 24 (p.Arg24X). When a dermatological clinician sees an adult patient showing only pigmented lesions and no other specifically diagnostic features of NF-1, it is important to suspect the possibility of Legius syndrome.

KEYWORDS:

SPRED1 ; Legius syndrome; café-au-lait macules; neurofibromatosis type 1; next-generation sequencing

PMID:
28378438
DOI:
10.1111/1346-8138.13687
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center