Ito hypomelanosis (incontinentia pigmenti achromians)

Authors report the case of a white male patient suffering from a rare neurocutaneous dysplasia. Macrocrania and right ventricular dilation of the brain were present at birth. Motor milestones were delayed and epilepsy with staring spells started at the age of 6 months. On examination at 2 years of age hypopigmented areas of linear distribution were noted on the right extremities and on the right side of the trunk, beyond macrocrania, psychomotor and mental delay. Cranial MRI performed at 5 years of age proved predominantly right-sided megalencephaly, gray matter heterotopia within the right hemispherium and polymicrogyria in the perisylvian region. The EEG was characterized by high-amplitude rhythmic theta activity over the right frontal area. Hypomelanosis of Ito was diagnosed. Authors call attention on the importance of skin lesions in neuropediatric disorders, and give a brief review of the literature in hypomelanosis of Ito.