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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hypomelanosis of Ito


Other Names for this Disease
  • Ito hypomelanosis
  • ITO
  • Incontinentia pigmenti achromians
  • IPA
  • Incontinentia pigmenti type 1 (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

What is hypomelanosis of Ito?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is hypomelanosis of Ito?

Hypomelanosis of Ito, also called incontinentia pigmenti achromians, is a rare birth defect that causes streaked, whirled, or mottled patches of light-colored skin. These skin changes often develop within the first two years of life. Other symptoms may include varying degrees of learning disability, seizures, increased body hair, scoliosis, and strabismus.  While the exact cause is not known, hypomelanosis of Ito syndrome is strongly linked to its genetics and many patients have chormosomal abnormalities. The disease may be caused by abnormal nerve termination in the involved areas of the skin.Girls tend to be affected more commonly than boys. Treatment depends on the problems that are presented.[1][2]
Last updated: 9/17/2015

What are the symptoms of hypomelanosis of Ito?

Hypomelanosis of Ito is characterized by streaked, whirled, or mottled patches of light-colored skin along the Blaschko lines. Other associated symptoms vary. The following symptoms have been described in cases of hypomelanosis of Ito reported in the medical literature.

Central nervous system (brain and spinal cord) defects
Learning difficulties
Mental retardation
Motor retardation
Seizures
Small head size
Large head size
Low muscle tone
Strabismus (eyes are misdirected)
Nystagmus (sudden involuntary eye movements)
Retinal degeneration
Skeletal defects (e.g., short stature, facial and limb asymmetry)
Tooth abnormalities
Chest that caves in (pectus excavatum)
Chest that caves out (pectus carinatum)
Scoliosis
Finger anomalies
Last updated: 2/24/2012

What causes hypomelanosis of Ito?

In many cases the cause of hypomelanosis of Ito can not be determined.[1] Some cases have been associated with an underlying chromosomal abnormality. The skin patterning may reflect “mosaicism.”[2] In mosaicism the person has some cells with normal chromsomes, and some with the chromosomal or gene abnormality. Click here to view an illustration of mosaicism. Mosaicism often leads to 2 cell lineages, which results in areas of hypopigmented (light areas of skint) and hyperpigmented skin (darker areas of skin). X-chromosome alterations are also found in hypomelanosis of Ito, and recent studies show that X-chromosome inactivation, activation, and mosaicism as the main causes of these differences in the skin. In less than 3% of the patients there is a family history of hypomelanosis of Ito–type skin lesions. Although hypomelanosis of Ito syndrome is most commonly a de novo occurrence (without any other cases in the family), familial cases appear to be transmitted as an autosomal dominant trait. About 10% of the patients report a family history of seizures or epilepsy.[3][4]
Last updated: 9/17/2015

Is hypomelanosis of Ito genetic?

Usually hypomelanosis of Ito is sporadic. “Sporadic” denotes either a genetic disorder that occurs for the first time in a family due to a new mutation or the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family.[2]

In less than 3% of the patients there is a family history of hypomelanosis of Ito–type skin lesions. Fmilial cases appear to be transmitted as an  autosomal dominant trait. About 10% of the patients report a family history of seizures or epilepsy.[3][4] Cases of autosomal recessive, and X-linked inheritance has also been reported in the literature. Click on the links to read more about these different modes of inheritance by visiting the the MedlinePlus information pages on these topics. The risks for future offspring to inherit hypomelanosis of Ito would depend on the type of inheritance in the family (i.e., sporadic, autosomal dominant, autosomal recessive…) To learn more about your specific recurrence risks we recommend that you speak with a genetics professional.
Last updated: 9/17/2015

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 11/27/2014

How might hypomelanosis of Ito be diagnosed?

When hypomelanosis of Ito is suspected, careful evaluation with a Wood's lamp may help confirm the diagnosis. Additional genetic testing may be recommended to discover any related medical problems.[1]
Last updated: 2/24/2012

How might hypomelanosis of Ito be treated?

Currently there is not a cure for hypomelanosis of Ito. Therapies are aimed at treating the symptoms in the child (e.g., seizures, scoliosis, strabismus). Children with this condition often receive their care from a multidisciplinary team of healthcare providers, including a pediatric ophthalmologist, neurologist, orthopedic specialist and others as needed. The overall prognosis of the child will depend on the severity of the associated symptoms.[1][2]
Last updated: 2/24/2012

References
Other Names for this Disease
  • Ito hypomelanosis
  • ITO
  • Incontinentia pigmenti achromians
  • IPA
  • Incontinentia pigmenti type 1 (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.