Hypomelanosis of Ito in Adult
Neurological findings can be observed in patients with hypomelanosis of Ito including treatment-resistant seizures that develop in infancy, psychomotor developmental delays, and some cases of severe neurologic impairment with hemimegalencephaly. Ocular abnormalities are common and include strabismus, aplasia / hypoplasia of the iris, and heterochromia iridis. Other less common associated findings include cleft lip and palate, anodontia, alopecia, scoliosis, and limb length discrepancy.
L81.9 – Disorder of pigmentation, unspecified
218358001 – Hypomelanosis of Ito
Differential Diagnosis & Pitfalls