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Family with Legius syndrome (neurofibromatosis type 1‐like syndrome)
Author(s) -
Sakai Noriyasu,
Maeda Tatsuro,
Kawakami Hiroshi,
Uchiyama Masaki,
Harada Kazutoshi,
Tsuboi Ryoji,
Mitsuhashi Yoshihiko
Publication year - 2015
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.12862
Subject(s) - neurofibromatosis , medicine , mutation , genetics , gene , biology , pathology
Abstract Legius syndrome ( O nline M endelian I nheritance in M an no. 611431) or neurofibromatosis type 1 ( NF 1)‐like syndrome was first reported by Legius et al . 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>T resulting in p.Arg117* in the SPRED 1 gene as the cause of the Legius syndrome. The N ational I nstitutes of H ealth criteria for NF 1 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 NF 1 clearly.