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Hypomelanosis of Ito in Infant/Neonate
Other Resources UpToDate PubMed

Hypomelanosis of Ito in Infant/Neonate

Contributors: Mehdi Rashighi MD, Susan Burgin MD
Other Resources UpToDate PubMed

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.

Codes

ICD10CM:
L81.9 – Disorder of pigmentation, unspecified

SNOMEDCT:
218358001 – Hypomelanosis of Ito

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Vitiligo
  • Tuberous sclerosis
  • Linear and whorled nevoid hypermelanosis
  • Incontinentia pigmenti, fourth stage – Presents with vesicles during the newborn period, progressing to verrucous lesions in early infancy and then hyperpigmentation, finally followed by a hypopigmented phase.
  • Nevus depigmentosus

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:04/12/2018
Last Updated:11/08/2023
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Hypomelanosis of Ito in Infant/Neonate
A medical illustration showing key findings of Hypomelanosis of Ito : Seizures, Asymmetric trunk or extremity distribution, Corneal opacities, Heterochromia iridis, Hypotonia, Linear configuration, Primarily truncal distribution, Whorled configuration, Hypopigmented patches
Clinical image of Hypomelanosis of Ito - imageId=1526699. Click to open in gallery.  caption: 'Hypopigmented macules and patches within Blaschko lines on the trunk and arm.'
Hypopigmented macules and patches within Blaschko lines on the trunk and arm.
Copyright © 2024 VisualDx®. All rights reserved.