Dyschromatosis universalis with X-linked ocular albinism

A 10-year-old Chinese boy with the characteristic skin manifestations of dyschromatosis universalis is described. In addition, the patient had congenital nystagmus with poor visual acuity, and ophthalmological examination revealed foveal hypoplasia and albino-like fundi. Histopathology showed giant pigment granules in the skin. Based upon the finding of giant pigment granules in clinically normal skin of the patient's mother, the patient was diagnosed as a case of dyschromatosis universalis with X-linked ocular albinism. To the best of our knowledge, this is the first documented case of this combination.