Hypomelanosis of Ito

Title

Other Names:

Ito hypomelanosis; ITO; Incontinentia pigmenti achromians; Ito hypomelanosis; ITO; Incontinentia pigmenti achromians; IPA; Incontinentia pigmenti type 1 (formerly) See More

Categories:

Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases; Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases; Skin Diseases See More

Summary Summary

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

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Aplasia/Hypoplasia of the iris	Very frequent (present in 80%-99% of cases)
Delayed cranial suture closure	Very frequent (present in 80%-99% of cases)
Heterochromia iridis	Very frequent (present in 80%-99% of cases)
Hypopigmented skin patches	Very frequent (present in 80%-99% of cases)
Seizures	Very frequent (present in 80%-99% of cases)
Strabismus	Very frequent (present in 80%-99% of cases)
Abnormality of macular pigmentation	Frequent (present in 30%-79% of cases)
Abnormality of the dentition	Frequent (present in 30%-79% of cases)
Corneal opacity	Frequent (present in 30%-79% of cases)
Hypertelorism	Frequent (present in 30%-79% of cases)
Intellectual disability	Frequent (present in 30%-79% of cases)
Macrocephaly	Frequent (present in 30%-79% of cases)
Muscular hypotonia	Frequent (present in 30%-79% of cases)
Myopia	Frequent (present in 30%-79% of cases)
Spina bifida occulta	Frequent (present in 30%-79% of cases)
Upslanted palpebral fissure	Frequent (present in 30%-79% of cases)
Abnormality of neuronal migration	Occasional (present in 5%-29% of cases)
Abnormality of the ear	Occasional (present in 5%-29% of cases)
Aplasia/Hypoplasia of the cerebellum	Occasional (present in 5%-29% of cases)
Arteriovenous malformation	Occasional (present in 5%-29% of cases)
Asymmetric growth	Occasional (present in 5%-29% of cases)
Brachycephaly	Occasional (present in 5%-29% of cases)
Chorioretinal coloboma	Occasional (present in 5%-29% of cases)
Clinodactyly of the 5th finger	Occasional (present in 5%-29% of cases)
Cryptorchidism	Occasional (present in 5%-29% of cases)
Depressed nasal ridge	Occasional (present in 5%-29% of cases)
Dolichocephaly	Occasional (present in 5%-29% of cases)
Generalized hirsutism	Occasional (present in 5%-29% of cases)
Genu varum	Occasional (present in 5%-29% of cases)
Hemangioma	Occasional (present in 5%-29% of cases)
Intrauterine growth retardation	Occasional (present in 5%-29% of cases)
Iris coloboma	Occasional (present in 5%-29% of cases)
Joint contracture of the 3rd finger	Occasional (present in 5%-29% of cases)
Microcephaly	Occasional (present in 5%-29% of cases)
Microphthalmia	Occasional (present in 5%-29% of cases)
Nephropathy	Occasional (present in 5%-29% of cases)
Nystagmus	Occasional (present in 5%-29% of cases)
Schizencephaly	Occasional (present in 5%-29% of cases)
Scoliosis	Occasional (present in 5%-29% of cases)
Torus palatinus	Occasional (present in 5%-29% of cases)
Triphalangeal thumb	Occasional (present in 5%-29% of cases)
Abnormality of metabolism/homeostasis	-
Alopecia	-
Cataract	-
Cerebral atrophy	-
Clinodactyly	-
Coarse facial features	-
Epicanthus	-
Gray matter heterotopias	-
Hand polydactyly	-
Heterogeneous	-
Irregularly spaced teeth	-
Kyphosis	-
Macular hypopigmented whorls, streaks, and patches	-
Radial deviation of finger	-
Somatic mosaicism	-
Syndactyly	-
Thick lower lip vermilion	-

Last updated: 9/1/2017

Neurological problems are found in 76% of patients during the first decade of life. Intellectual disability and seizures are the most common presenting symptoms. In one study, about 50% of the patients presented with seizures, although a lower frequency (37%) was reported in the pediatric dermatology clinic–based series. Generalized tonic-clonic seizures were most common (25%), whereas partial seizures were noted in 12% of patients, infantile spasms were reported in 8%, and myoclonic seizures were observed in 4%.^[3]

Last updated: 9/17/2015

Cause Cause

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.^[4]^[3]

Last updated: 9/17/2015

Inheritance Inheritance

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.^[4]^[3] 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

Diagnosis Diagnosis

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

Treatment Treatment

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

Prognosis Prognosis

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.^[1]^[2]

Last updated: 2/24/2014

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Pediatric Patients With Metabolic or Other Genetic Disorders which may be of interest to you. To find this trial, click on the link above.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

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

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Hypomelanosis of Ito. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Shobha N, Taly AB, Sinha S, Arunodaya GR, Srikanth SG. Neurological pictures. Hypomelanosis of Ito. J Neurol Neurosurg Psychiatry. 2006 Jul;77(7):873.
Bhardwaj M, Vashisht N. Hypomelanosis of Ito. Indian Pediatr. 2004 Apr;41(4):401.
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.

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How long does a person who has this disease have to live? See answer
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References References

Incontinentia pigmenti achromians. MedlinePlus. May 15, 2013; http://www.nlm.nih.gov/medlineplus/ency/article/001461.htm. Accessed 9/17/2015.
Vergine G. Ito hypomelanosis. Orphanet. May, 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=435. Accessed 9/17/2015.
Janniger CK. Pediatric Hypomelanosis of Ito. Medscape Reference. November 7, 2014; http://emedicine.medscape.com/article/909996-overview. Accessed 9/17/2015.
Ratz JL. Hypomelanosis of Ito. Medscape Reference. August 11, 2014; http://emedicine.medscape.com/article/1068339-overview. Accessed 9/17/2015.