Legius syndrome: A case report

Ryoko Kimura, Yuichi Yoshida, Ryo Maruoka, Kenjiro Kosaki, Osamu Yamamoto

Research output: Contribution to journalArticle


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.

Original languageEnglish
JournalJournal of Dermatology
Publication statusAccepted/In press - 2016


  • SPRED1
  • Café-au-lait macules
  • Legius syndrome
  • Neurofibromatosis type 1
  • Next-generation sequencing

ASJC Scopus subject areas

  • Dermatology

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    Kimura, R., Yoshida, Y., Maruoka, R., Kosaki, K., & Yamamoto, O. (Accepted/In press). Legius syndrome: A case report. Journal of Dermatology. https://doi.org/10.1111/1346-8138.13687