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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Aplasia/Hypoplasia of the iris	Absent/small iris Absent/underdeveloped iris [ more ]	0008053
Delayed cranial suture closure		0000270
Heterochromia iridis	Different colored eyes	0001100
Hypopigmented skin patches	Patchy loss of skin color	0001053
Seizures	Seizure	0001250
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
30%-79% of people have these symptoms
Abnormality of macular pigmentation		0008002
Abnormality of the dentition	Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ]	0000164
Corneal opacity		0007957
Global developmental delay		0001263
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Muscular hypotonia	Low or weak muscle tone	0001252
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Spina bifida occulta		0003298
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
5%-29% of people have these symptoms
Abnormality of neuronal migration		0002269
Abnormality of the ear		0000598
Aplasia/Hypoplasia of the cerebellum	Absent/small cerebellum Absent/underdeveloped cerebellum [ more ]	0007360
Arteriovenous malformation		0100026
Asymmetric growth	Uneven or disproportionate growth of one body part compared to another	0100555
Brachycephaly	Short and broad skull	0000248
Chorioretinal coloboma	Birth defect that causes a hole in the innermost layer at the back of the eye	0000567
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Depressed nasal ridge	Flat nose Recessed nasal ridge [ more ]	0000457
Dolichocephaly	Long, narrow head Tall and narrow skull [ more ]	0000268
Generalized hirsutism	Excessive hairiness over body	0002230
Genu varum	Outward bow-leggedness Outward bowing at knees [ more ]	0002970
Hemangioma	Strawberry mark	0001028
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Iris coloboma	Cat eye	0000612
Joint contracture of the 3rd finger		0009319
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Microphthalmia	Abnormally small eyeball	0000568
Nephropathy		0000112
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Schizencephaly		0010636
Scoliosis	Abnormal curving of the spine	0002650
Torus palatinus		0100789
Triphalangeal thumb	Finger-like thumb	0001199
Percent of people who have these symptoms is not available through HPO
Abnormality of metabolism/homeostasis	Laboratory abnormality Metabolism abnormality [ more ]	0001939
Alopecia	Hair loss	0001596
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Cerebral atrophy	Degeneration of cerebrum	0002059
Clinodactyly	Permanent curving of the finger	0030084
Coarse facial features	Coarse facial appearance	0000280
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Gray matter heterotopia		0002282
Hand polydactyly	Extra finger	0001161
Irregularly spaced teeth	Irregular dental spacing Variability of spacing between teeth [ more ]	0006316
Kyphosis	Hunched back Round back [ more ]	0002808
Macular hypopigmented whorls, streaks, and patches		0005593
Radial deviation of finger		0009466
Somatic mosaicism		0001442
Syndactyly	Webbed fingers or toes	0001159
Thick lower lip vermilion	Increased volume of lower lip Plump lower lip Prominent lower lip [ more ]	0000179

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2019

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

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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

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare 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 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.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis should include incontinentia pigmenti (Bloch-Sulzberger syndrome) characterized by a dynamic course of more inflammatory cutaneous lesions; tuberous sclerosis marked by multiple cutaneous lesions with irregular borders and frequently with an `ash leaf' configuration, and Pallister-Killian syndrome resulting from a mosaic state for chromosome 12p tetrasomy (see these terms). When associated with hyperpigmented macules, neurofibromatosis types 1 or 2 (see these terms), and a homozygous state for mismatch repair genes should also be considered in the differential diagnosis. Visit the Orphanet disease page for more information.

Conditions with similar signs and symptoms from Orphanet

Differential diagnosis should include incontinentia pigmenti (Bloch-Sulzberger syndrome) characterized by a dynamic course of more inflammatory cutaneous lesions; tuberous sclerosis marked by multiple cutaneous lesions with irregular borders and frequently with an `ash leaf' configuration, and Pallister-Killian syndrome resulting from a mosaic state for chromosome 12p tetrasomy (see these terms). When associated with hyperpigmented macules, neurofibromatosis types 1 or 2 (see these terms), and a homozygous state for mismatch repair genes should also be considered in the differential diagnosis.

Visit the Orphanet disease page for more information.

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.

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? We want to hear from you.

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.

GARD Answers GARD Answers

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How long does a person who has this disease have to live? See answer
What is hypomelanosis of Ito? See answer

Have a question? Contact a GARD Information Specialist.

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.