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

Legius syndrome: A case report.

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


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.


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

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