Hypomelanosis of Ito

Hypomelanosis of Ito (HI) is a rare neurocutaneous syndrome with characteristic whirled hypopigmented skin lesions and neurological manifestations. Less consistently, there may be non-neurological manifestations that include ophthalmic, musculoskeletal, craniofacial, cardiac, genitourinary, and gastrointestinal involvements. We report a case of HI, with typical skin lesions in association with hemimegalencephaly, seizures and mental retardation along with the hitherto unreported repetitive hand movements such as seen in Rett syndrome.