Abstract: We report a case of generalized dyschromatosis and analyze the pathogenic gene mutation. The patient was a 23-year-old female who presented with diffusely distributed irregular hypopigmented macules accompanied by hyperpigmented macules of varying sizes on the trunk and extremities since approximately 1 year of age. No similar medical history was found among the patient's family members. Peripheral blood DNA was extracted from the patient and 100 normal controls from the hospital's biobank. High-throughput whole-exome sequencing and Sanger sequencing verification revealed a heterozygous mutation c.2389A＞G (p.I797V) in exon 18 of the ABCB6 gene in the patient. This mutation was not detected in the normal controls.

Key words: dyschromatosis universalis hereditaria, ABCB6 gene