OBSOLETE: Ito hypomelanosis

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Overview

Ito hypomelanosis — also called hypomelanosis of Ito, incontinentia pigmenti achromians, or simply HI — is a rare condition that causes unusual patches of lighter-than-normal skin. These pale patches appear in swirling, streaky, or whorled patterns on the body, following lines called Blaschko's lines, which trace the paths that skin cells travel during early development. The skin changes are usually present at birth or appear in early childhood and are not painful or itchy. Beyond the skin, many people with this condition also have problems affecting the brain and nervous system, such as intellectual disability, seizures, and developmental delays. Some individuals also have differences in their eyes, muscles, bones, or teeth. The condition is now considered 'obsolete' as a single diagnosis because research has shown it is not one disease but rather a sign of an underlying chromosomal or genetic mosaic condition — meaning some cells in the body have a different genetic makeup than others. There is no cure for hypomelanosis of Ito. Treatment focuses on managing individual symptoms, such as using anti-seizure medications, physical therapy, and educational support. The severity varies widely from person to person — some people have only mild skin changes, while others have significant developmental challenges.

Also known as:

Key symptoms:

Pale or lighter-colored patches of skin in swirling or streaky patternsPatches that follow lines across the body (Blaschko's lines)Intellectual disability or learning difficultiesSeizures or epilepsyDelayed speech and language developmentDelayed motor development (late sitting, standing, or walking)Autism spectrum features or behavioral challengesMuscle weakness or low muscle toneDifferences in eye structure or vision problemsAbnormal teeth or dental developmentSkeletal differences such as scoliosisAsymmetry of the body or limbs

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Ito hypomelanosis.

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No actively recruiting trials found for OBSOLETE: Ito hypomelanosis at this time.

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Search ClinicalTrials.gov ↗Join the OBSOLETE: Ito hypomelanosis community →

No specialists are currently listed for OBSOLETE: Ito hypomelanosis.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to OBSOLETE: Ito hypomelanosis.

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Community

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Latest news about OBSOLETE: Ito hypomelanosis

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.What genetic testing should we do to find the underlying cause of my child's condition?,Does my child need a brain MRI or EEG, and how often should these be repeated?,What therapies — speech, physical, or occupational — would benefit my child most right now?,How do we manage seizures, and what should I do if a seizure lasts a long time?,Are there any other specialists my child should see regularly?,What should I watch for as my child grows that might signal a new problem?,Are there support groups or resources for families dealing with this condition?

Common questions about OBSOLETE: Ito hypomelanosis

What is OBSOLETE: Ito hypomelanosis?

Ito hypomelanosis — also called hypomelanosis of Ito, incontinentia pigmenti achromians, or simply HI — is a rare condition that causes unusual patches of lighter-than-normal skin. These pale patches appear in swirling, streaky, or whorled patterns on the body, following lines called Blaschko's lines, which trace the paths that skin cells travel during early development. The skin changes are usually present at birth or appear in early childhood and are not painful or itchy. Beyond the skin, many people with this condition also have problems affecting the brain and nervous system, such as inte

At what age does OBSOLETE: Ito hypomelanosis typically begin?

Typical onset of OBSOLETE: Ito hypomelanosis is infantile. Age of onset can vary across affected individuals.