title: Dyschromatosis symmetrica hereditaria associated with neurological disorders.
abstract: Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance caused by a mutation of adenosine deaminase acting on the RNA 1 gene (ADAR1). It is characterized by a mixture of hyper- and hypopigmented macules on the back of the hands and feet. The pathomechanism by which the ADAR1 gene mutation induces DSH has not been clarified yet. We experienced an 11-year-old male DSH patient associated with dystonia, mental deterioration and brain calcification, who had a mutation of p.G1007R in the ADAR1 gene. This mutation had already been reported in a patient with similar neurological symptoms by Tojo et al. Additionally, a patient with DSH associated with torsion dystonia was reported by Patrizi et al., but gene analysis was not carried out. Only three cases with neurological disorders have been reported, although more than 50 mutations of the ADAR1 gene causing DSH have been reported and none of them had any neurological symptoms. Therefore, we suggest that neurological disorders rarely develop in DSH.
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan. tk0728@med.nagoya-u.ac.jp
authors.forename: Taisuke
authors.initials: T
authors.lastname: Kondo
authors.forename: Tamio
authors.initials: T
authors.lastname: Suzuki
authors.forename: Shiro
authors.initials: S
authors.lastname: Ito
authors.forename: Michihiro
authors.initials: M
authors.lastname: Kono
authors.forename: Tamiko
authors.initials: T
authors.lastname: Negoro
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Tomita
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics; D001927:Brain Diseases / Q000150:complications*; D002648:Child; D004421:Dystonia / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D009154:Mutation; D010859:Pigmentation Disorders / Q000150:complications / Q000235:genetics*; D016601:RNA-Binding Proteins
chemical_list: D016601:RNA-Binding Proteins; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase