Dyschromatosis symmetrica hereditaria: A retrospective case series and literature review

Abstract

Abstract Background/Objective Dyschromatosis symmetrica hereditaria (DSH) is a rare pigmentary genodermatosis characterized by hyper- and hypopigmented macules on the face and dorsal aspects of the extremities. This study aimed to delineate the unique clinical, histological, and genetic features of DSH in a Taiwanese population. Methods A retrospective review of clinical charts and archival photographs was performed for patients diagnosed with DSH in a medical center in Taiwan between 1992 and 2011. Results A total of 25 patients (mean age at diagnosis 20.3 years) were given the clinical diagnosis of DSH. The male:female ratio was 14:11. Positive family history was noted in 14 patients (56%). The pattern of inheritance was basically autosomal dominant. Twelve patients (48%) had typical hypo- and hyperpigmented macules distributed on the dorsal aspects of the extremities. Six patients (24%) had coexistence of other diseases, particularly seizure, mental retardation, and autism. Mutation analyses were done on 12 patients (48%), with three novel mutations previously identified. Skin biopsy specimens were obtained from seven patients (28%). Six of those had pathological findings consistent with the diagnosis of DSH. Conclusion With this series, we hope to add to the DSH mutation database and contribute further to the understanding of DSH genotype/phenotype correlations.