Family with Legius syndrome (neurofibromatosis type 1‐like syndrome). Issue 7 (18th May 2015)

• Record Type: Journal Article
• Authors: Sakai, Noriyasu; Maeda, Tatsuro; Kawakami, Hiroshi; Uchiyama, Masaki; Harada, Kazutoshi; Tsuboi, Ryoji; Mitsuhashi, Yoshihiko
• Is Part Of: Journal of dermatology. Volume 42:Issue 7(2015)
• Page Start: 703
• Page End: 705
• Publication Date: 2015-05-18
• Subjects: Dermatology -- Periodicals; Dermatology -- Japan -- Periodicals; Skin -- Diseases -- Periodicals; 616.5005
• DOI: 10.1111/1346-8138.12862
• Languages: English
• ISSNs: 0385-2407

Abstract

<abstract abstract-type="main" id="jde12862-abs-0001"> <title>Abstract</title> <p>Legius syndrome (Online Mendelian Inheritance in Man no. 611431) or neurofibromatosis type 1 (NF1)‐like syndrome was first reported by Legius <italic>et al</italic>. in 2007. We herein report the first instance of Legius syndrome occurring in two female siblings in Japan. Both individuals presented cafe‐au‐lait macules and freckling. Mutation analysis revealed a mutation of c.349C&gt;T resulting in p.Arg117* in the <italic>SPRED1</italic> gene as the cause of the Legius syndrome. The National Institutes of Health criteria for NF1 are insufficient to rule out the condition. For this reason, and because the clinical course of each condition is quite different, we stress the need to differentiate Legius syndrome from NF1 clearly.</p> </abstract>