What is hypomelanosis of Ito? What are the symptoms of hypomelanosis of Ito? What causes hypomelanosis of Ito? Is hypomelanosis of Ito genetic? How can I find a genetics professional in my area?
|Published (Last):||18 July 2007|
|PDF File Size:||2.45 Mb|
|ePub File Size:||16.89 Mb|
|Price:||Free* [*Free Regsitration Required]|
What is hypomelanosis of Ito? What are the symptoms of hypomelanosis of Ito? What causes hypomelanosis of Ito? Is hypomelanosis of Ito genetic? How can I find a genetics professional in my area? How might hypomelanosis of Ito be diagnosed? How might hypomelanosis of Ito be treated? We hope this information is helpful.
We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us. Please see our Disclaimer. National Institutes of Health. COVID is an emerging, rapidly evolving situation. Menu Search Home Diseases Hypomelanosis of Ito. Back to List of Questions. Question Question. Answer Answer.
The following information may help to address your question: 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.
Other associated symptoms vary. 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. In many cases the cause of hypomelanosis of Ito can not be determined. 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.
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. Usually hypomelanosis of Ito is sporadic. To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. 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. Currently there is not a cure for hypomelanosis of Ito. Therapies are aimed at treating the symptoms in the child e. The overall prognosis of the child will depend on the severity of the associated symptoms. References References. Incontinentia pigmenti achromians. Vergine G. Ito hypomelanosis. Ratz JL. Hypomelanosis of Ito.
Medscape Reference. Janniger CK. Pediatric Hypomelanosis of Ito. Share this content:. Close Copy Link. You May Be Interested In.
How to Find a Disease Specialist. Tips for the Undiagnosed. Support for Patients and Families. Tips for Finding Financial Aid. Help with Travel Costs. How to Get Involved in Research. Medical and Science Glossaries. Caring for Your Patient with a Rare Disease. FindZebra Diagnosis Assist Tool. Finding Funding Opportunities. Teaching Resources.
2015, Number 1
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located at the bottom of this page. Additional information. Other search option s Alphabetical list.
2007, Number 1
Hypomelanosis of Ito , also known as incontinentia pigmenti achromians , is the third most frequent phakomatosis , involving a wide spectrum of defects in multiple organ systems. The prevalence is unknown, being reported as between 1 per patients in a general pediatric hospital 3 and 1 per — patients referred to a pediatric neurology service 1. Iris hypopigmentation is also reported. It is important to note that the disease severity is not correlated with the extent of cutaneous lesions 1.
Hypomelanosis of Ito
Alternative titles; symbols. See also linear and whorled nevoid hypermelanosis LWNH; , a benign pigmentation disorder with some similarities. Although some features are similar to those of classic incontinentia pigmenti , the differences are sufficient to establish it as a separate disorder. The disorder is characterized by unilateral or bilateral macular hypopigmented whorls, streaks, and patches which are described as the 'negative pattern' of the hyperpigmented lesions of incontinentia pigmenti. Abnormalities of the eyes and the musculoskeletal and central nervous systems occur in some Jelinek et al. Montagna et al. Their mother showed only the skin changes and no neurologic disturbances.
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. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. 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.