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Disease Profile
Hypomelanosis of Ito
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Ito hypomelanosis; ITO; Incontinentia pigmenti achromians;
Categories
Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases;
Summary
Hypomelanosis of Ito, also called incontinentia pigmenti achromians, 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,
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
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 |
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 |
Extra finger
|
0001161 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Iris coloboma |
Cat eye
|
0000612 |
Irregularly spaced teeth |
Irregular dental spacing
Variability of spacing between teeth
[ more ] |
0006316 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Macular hypopigmented whorls, streaks, and patches | 0005593 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Radial deviation of finger | 0009466 | |
0002650 | ||
Seizure | 0001250 | |
Somatic mosaicism | 0001442 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Webbed fingers or toes
|
0001159 | |
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] |
0000179 |
Cause
Diagnosis
Treatment
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.
References
- Incontinentia pigmenti achromians. MedlinePlus. May 15, 2013; https://www.nlm.nih.gov/medlineplus/ency/article/001461.htm. Accessed 9/17/2015.
- Vergine G. Ito hypomelanosis. Orphanet. May, 2008; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=435. Accessed 9/17/2015.
- Hypomelanosis of Ito. NORD. Updated 2017; https://rarediseases.org/rare-diseases/hypomelanosis-of-ito/.
- Janniger CK. Pediatric Hypomelanosis of Ito. Medscape Reference. November 7, 2014; https://emedicine.medscape.com/article/909996-overview. Accessed 9/17/2015.
- Ratz JL. Hypomelanosis of Ito. Medscape Reference. August 11, 2014; https://emedicine.medscape.com/article/1068339-overview. Accessed 9/17/2015.
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