What is Hypomelanosis of Ito?

Hypomelanosis of Ito is a rare genetic condition where a patient has large patches and whorls of unpigmented skin. It is often associated with neurological problems and skull anomalies, making it a cause for concern when it is identified. This condition is much more common in women than men and is usually identified by two years of age. Treatment options are focused on supportive care for the patient, and many people with this condition live active, full lives.

The first person to identify and describe hypomelanosis of Ito was a Japanese doctor who discovered it on the torso of a young female patient. Patients with this condition commonly have stripes and swirls of lighter skin. It may blend well with their natural skin, depending on their racial origin, and usually causes no problems. The skin is more sensitive to sun because of the lack of protection from radiation, and it is important to make sure it is covered or protected from sunlight to avoid skin irritation and to reduce the risk of cancers.

Patients with hypomelanosis of Ito can also have seizure disorders and other neurological problems. Some have cognitive impairments and may have learning disorders, as well as difficulty acquiring skills, including speech. Cleft lip and palate are seen in some patients along with dental problems and irregularities in the shape of the skull. A full evaluation from a physician is necessary to determine what kinds of conditions are associated with the hypomelanosis of Ito in a given patient.

This condition has been tracked back to several genes. The wide variation in severity and accompanying symptoms can be attributed to the fact that it involves a complex of genes, rather than just one. People can inherit a variety of mixtures of deleterious genes, resulting in dramatic differences between patients. Hypomelanosis of Ito can also be the result of a spontaneous mutation in a patient, occurring when there is no family history of disease and neither parent is a carrier.

People with this condition do risk passing the genes on to their children. Depending on the mixture of genes inherited, a child may develop hypomelanosis of Ito or become a carrier. People concerned about the risks can consult a genetic specialist to get advice and information. This can include genetic testing to learn more about the genomes of prospective parents, providing an opportunity to identify any areas of concern and discuss methods for addressing them.