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.
All Science Journal Classification (ASJC) codes