Dyschromatosis Symmetrica Hereditaria

Background Dyschromatosis symmetrica hereditaria(DSH),also called reticulate acropigmentation of Dohi or leucopathia punctata etreticularis symmetrica and symmetric,is an autosomal dominant disorder characterized by a mixture of hypopigmented and hyperpigmented macules on the dorsa of the hands and feet and freckle-like macules on the face.DSH is caused by mutations in the adenosine deaminase acting on RNA gene(ADAR)at 1q21.3,which encodes the RNA editing enzyme.More than 130 different mutations throughout ADAR have been described in patients with DSH.Objective We collected a dyschromatosis symmetrica hereditaria pedigree,of which the proband manifested with typical lesion of a mixture of hypopigmented and hyperpigmented macules on the dorsa of the hands and feet.Molecular biological detection was performed in the pedigree to offer more information of gene mutation in piebaldism,lays the foundation for further research on the relationship between DSH genotype and phenotype,prenatal diagnosis and gene therapy.Methods The piebaldism pedigree was investigated,the locations of lesions were recorded and pictures were taken.Polymerase chain reaction(PCR)and DNA sequencing were used to detect the mutation of ADAR genes in patients of the pedigree and healthy adults as control group.Results A juvenile onset mixture of hyperpigmented and hypopigmented macules on the dorsal regions of the extremities,hypopigmented and hyperpigmented macules on the buttocks were found in proband,a similar phenotype was confirmed in the mother of proband.A heterozygous missense c.3463C>T(p.R1155W)mutation in exon 15 of ADAR gene was found in proband,the same mutation was found in the affected mother.No gene mutation was found in 100 unrelated control individuals,and the father of proband.Conclusion The heterozygous missense c.3463C>T mutation(p.Rl 155W),codon of which is located in the center of tyrosine kinase domain,is the disease-causing mutation in the pedigree with DSH,which has been reported in 2 Chenese pedigrees previously.Hypopigmented and hyperpigmented macules on the buttocks were found in proband,which has been reported in 1 Chenese pedigrees previously.