Hypomelanosis of Ito

What causes hypomelanosis of Ito?

In many cases the cause of hypomelanosis of Ito can not be determined. Some cases have been associated with an underlying chromosomal abnormality. The skin patterning may reflect “mosaicism.” 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.

Last updated on 05-01-20

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.

Last updated on 05-01-20

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.

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. 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 on 05-01-20

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.

Last updated on 05-01-20

What is the life expectancy for hypomelanosis of Ito?

The overall prognosis of a child with hypomelanosis of Ito will depend on the severity of the associated symptoms. The life expectancy is normal for symptoms that only involve the skin changes.

Last updated on 05-01-20

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.

Last updated on 05-01-20

Selected Full-Text Journal Articles

Free full text - Hypomelanosis of Ito

Moss C, Larkins S, Stacey M, Blight A, Farndon PA, Davison EV. Epidermal mosaicism and Blaschko's lines. J Med Genet. 1993 Sep;30(9):752-5.

Last updated on 04-27-20

Name: Incontinentia Pigmenti International Foundation 30 East 72nd Street
New York, NY, 10021 , United States
Email: ipif@ipif.org Url: http://www.ipif.org/
Name: HITS (Worldwide) Family Support Network 33 Fernworthy Close Torquay
Devon
0, TQ2 7JQ, United Kingdom
Phone: 01803 401018 Email: indy5258@hotmail.com Url: http://www.e-fervour.com/hits/

Connect with other users with Hypomelanosis of Ito on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App