EDITOR,Hypomelanosis of Ito (HI) is a neurocutaneous syndrome characterised by hypopigmented skin lesions along Blaschko's lines, frequently associated with neurological, musculoskeletal, ocular, and other extracutaneous manifestations. Chromosomal mosaicism in skin fibroblasts is responsible for approximately 30% of the cases.¹ Kearns Sayre syndrome (KSS) is a mitochondrial multisystem disorder, usually associated with a single large scale muscle mtDNA deletion. Its main clinical characteristics are progressive external ophthalmoplegia and pigmentary retinopathy but virtually all organ systems can be involved.²

We report a 13 year old boy who, at the age of 5 years, was diagnosed with HI and who later, at the age of 12 years proved to have KSS. At the age of 5 years the patient had short stature, mild mental retardation, corneal opacities and myopia, irregularly spaced teeth with hypoplastic dental enamel, hypopigmented patchy lesions on the left side of the trunk, and linear streaks on the left limbs. The . . . [Full text of this article]