What Is Hypomelanosis (H.I.) of ITO

Though the exact cause of Hypomelanosis of Ito is unknown. Many causes are associated with genetic mosaicism and sporadic gene mutations. Mehdi Rashighi MD, and Susan Burgin MD believe that HI Syndrome is not a distinct entity, but rather a manifestation of many different states of somatic mosaicism displaying in the with "whorls" of hypopigmented skin patches also known as Blaschko's lines named after German dermatologist Alfred Blaschko. These skin lesions usually develop in early infancy and remain unchanged through childhood and beyond Neurological findings can be observed in patients with Hypomelanosis of It including treatment resistant seizures that develop in infancy, psychomotor development delays, and in some causes serve neurological impairment with hemimegaloencephaly. Ocular abnormalities are common and include strabismus, aplasia hypoplasia of the iris, and heterochromia. Other less common associated findings include cleft lip and palate, anodontia, alopecia, scoliosis, and limb length discrepancy.

It has been estimated that between 1 in 8,000 -10,000 people may have Hypomelanosis of Ito. Females are more likely to have it than males. The exact number of people with this condition is unknown.