A novel deletion mutation in the adenosine deaminase RNA-specific gene in a Taiwanese patient with dyschromatosis symmetrica hereditaria

A 10-year-old boy was referred to our dermatology department with mottled hyperpigmented and hypopigmented macules over the upper extremities and neck for about 5 years (Figure 1). There was no history of prolonged sun exposure. The skin lesions were more prominent in summer and improved in winter. He was otherwise healthy except for allergic rhinitis. No other family members had similar skin lesions. Skin biopsies were done from a hyperpigmented macule and a hypopigmented macule. The hyperpigmented lesion showed basal hyperpigmentation; the density and morphology of basal melanocytes appeared normal as demonstrated by immunostaining for Melan-A. The hypopigmented lesion showed basal hypopigmentation with reduced number of Melan-A-positive basal melanocytes. The clinical and pathologic findings are consistent with dyschromatosis symmetrica hereditaria (DSH).