Hypomelanosis of Ito
- Ito hypomelanosis
- Incontinentia pigmenti achromians
- Incontinentia pigmenti type 1 (formerly)
Your QuestionWhat is hypomelanosis of Ito?
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Central nervous system (brain and spinal cord) defects
Small head size
Large head size
Low muscle tone
Strabismus (eyes are misdirected)
Nystagmus (sudden involuntary eye movements)
Skeletal defects (e.g., short stature, facial and limb asymmetry)
Chest that caves in (pectus excavatum)
Chest that caves out (pectus carinatum)
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.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- 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.
- Ratz JL. Hypomelanosis of Ito. Medscape Reference. August 11, 2014; http://emedicine.medscape.com/article/1068339-overview. 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.