Abstract: We reported a case of vitiligo with pygmyism, nerve deafness and vision loss. A 6-year-old boy presented with a 6-year history of jaundice, developmental retardation occurring at age 1, hearing loss at age 4, pygmyism and vitiligo at age 5. Two mutations of c.1811 T>C and c.1973 T>C on the PTPRQ gene were found by whole exon sequencing. Dermatological examination showed multiple white hypopigmentation patches on the flexed side of the right upper arm. He was diagnosed with vitiligo complicated with pygmyism, nerve deafness and vision loss.

Key words: pygmyism, vitiligo, nerve deafness, visionlos