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Legius syndrome: A case report
Author(s) -
Kimura Ryoko,
Yoshida Yuichi,
Maruoka Ryo,
Kosaki Kenjiro,
Yamamoto Osamu
Publication year - 2017
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 - 10.1111/1346-8138.13687
Subject(s) - computer science
Legius syndrome is a rare genetic disorder caused by heterozygous germ line loss‐of‐function SPRED 1 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 SPRED 1 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.