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Hypomelanosis of Ito in Infant/Neonate
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Hypomelanosis of Ito in Infant/Neonate

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Contributors: Mehdi Rashighi MD, Susan Burgin MD
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Synopsis

Hypomelanosis of Ito (incontinentia pigmenti achromians) is not a distinct entity, but rather a manifestation of many different states of somatic mosaicism displaying in the skin with "whorls" of hypopigmented skin patches. Skin lesions usually develop in early infancy and remain unchanged through childhood and beyond.

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.

For more information, see OMIM.

Codes

ICD10CM:
L81.9 – Disorder of pigmentation, unspecified

SNOMEDCT:
218358001 – Hypomelanosis of Ito

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Last Reviewed: 04/13/2018
Last Updated: 04/17/2018
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Hypomelanosis of Ito in Infant/Neonate
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Hypomelanosis of Ito : Seizures, Asymmetric trunk or extremity, Corneal opacities, Heterochromia iridis, Hypotonia, Linear configuration, Primarily truncal, Whorled configuration, Hypopigmented patches
Clinical image of Hypomelanosis of Ito
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