Dyschromatosis symmetrica hereditaria associated with neurological disorders
Article first published online: 21 OCT 2008
© 2008 Japanese Dermatological Association
The Journal of Dermatology
Volume 35, Issue 10, pages 662–666, October 2008
How to Cite
KONDO, T., SUZUKI, T., ITO, S., KONO, M., NEGORO, T. and TOMITA, Y. (2008), Dyschromatosis symmetrica hereditaria associated with neurological disorders. The Journal of Dermatology, 35: 662–666. doi: 10.1111/j.1346-8138.2008.00540.x
- Issue published online: 21 OCT 2008
- Article first published online: 21 OCT 2008
- Received 26 November 2007; accepted 23 May 2008.
- brain calcification;
- dyschromatosis symmetrica hereditaria;
- mental deterioration
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.