Dyschromatosis universalis hereditaria

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ORPHA:241OMIM:127500L81.8
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15Specialists8Treatment centers

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Overview

Dyschromatosis universalis hereditaria (DUH) is a rare inherited skin condition that causes patches of both darker and lighter skin to appear all over the body. The name comes from Greek and Latin words meaning 'abnormal coloring of the whole body.' It is sometimes called universal dyschromatosis. The condition develops because the cells that give skin its color (called melanocytes) do not work properly in certain areas, leading to a mixed pattern of hyperpigmented (darker) and hypopigmented (lighter) spots scattered across the skin. The patches usually appear in early childhood and can affect the face, trunk, arms, and legs. The skin changes are generally not painful or itchy, but they can be very noticeable and may cause emotional distress or self-consciousness, especially in children and teenagers. In some cases, DUH has been linked to other health issues such as hearing loss, eye problems, or neurological features, though many people have only the skin changes. There is currently no cure for DUH. Treatment focuses on managing the appearance of the skin and protecting affected areas from sun exposure. Camouflage makeup and sunscreen are commonly used. Emotional support and counseling can also be very helpful. Genetic counseling is recommended for affected families to understand the risk of passing the condition to children.

Key symptoms:

Mixed patches of darker and lighter skin spread across the bodySkin color changes that appear in early childhoodSpots on the face, arms, legs, and trunkNo pain or itching from the skin patchesIncreased sensitivity to sunlight in lighter patchesPossible hearing loss in some casesPossible eye problems such as sensitivity to lightPossible neurological features in rare casesSkin changes that tend to be stable or slowly progress over timeEmotional distress or low self-esteem related to visible skin differences

Clinical phenotype terms (9)— hover any for plain English
Spotty hypopigmentationHP:0005590
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Dyschromatosis universalis hereditaria.

View clinical trials →

No actively recruiting trials found for Dyschromatosis universalis hereditaria at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Dyschromatosis universalis hereditaria community →

Specialists

15 foundView all specialists →
DZ
Ding'an Zhou
Specialist
2 Dyschromatosis universalis hereditaria publications
PY
Pingping Yang
Specialist
2 Dyschromatosis universalis hereditaria publications
HC
Hongyu Chen
NEW YORK, NY
Specialist
2 Dyschromatosis universalis hereditaria publications
KK
Kaliaperumal Karthikeyan
Specialist
2 Dyschromatosis universalis hereditaria publications
DW
Dongsheng Wang
Specialist
1 Dyschromatosis universalis hereditaria publication
ML
Mao Lu
Specialist
1 Dyschromatosis universalis hereditaria publication
VP
Vijayasankar Palaniappan
Specialist
1 Dyschromatosis universalis hereditaria publication
VA
Varshini Anbarasan
Specialist
1 Dyschromatosis universalis hereditaria publication
LY
Liyan Yuan
Specialist
1 Dyschromatosis universalis hereditaria publication
YL
Ying Luo
Specialist
1 Dyschromatosis universalis hereditaria publication
AM
Aravind B Murthy
Specialist
1 Dyschromatosis universalis hereditaria publication
CY
Chao Yang
BOSTON, MA
Specialist
1 Dyschromatosis universalis hereditaria publication
MM
Mao-Qiang Man
Specialist
1 Dyschromatosis universalis hereditaria publication
ZL
Zhenfeng Liu
Specialist
1 Dyschromatosis universalis hereditaria publication
DY
Dan Yang
Specialist
1 Dyschromatosis universalis hereditaria publication

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 Dyschromatosis universalis hereditaria.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Dyschromatosis universalis hereditaria

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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.Which gene is causing DUH in my family, and what does that mean for my children or siblings?,Should I have my hearing and vision checked regularly because of this condition?,What type of sunscreen and sun protection do you recommend for the lighter patches on my skin?,Are there any treatments — such as laser therapy — that might help reduce the appearance of the patches?,Where can I find a support group or counseling for people with visible skin differences?,How often should I come back for follow-up appointments, and what changes in my skin should prompt me to call sooner?,Are there any clinical trials or new research studies I should know about for DUH?

Common questions about Dyschromatosis universalis hereditaria

What is Dyschromatosis universalis hereditaria?

Dyschromatosis universalis hereditaria (DUH) is a rare inherited skin condition that causes patches of both darker and lighter skin to appear all over the body. The name comes from Greek and Latin words meaning 'abnormal coloring of the whole body.' It is sometimes called universal dyschromatosis. The condition develops because the cells that give skin its color (called melanocytes) do not work properly in certain areas, leading to a mixed pattern of hyperpigmented (darker) and hypopigmented (lighter) spots scattered across the skin. The patches usually appear in early childhood and can affec

At what age does Dyschromatosis universalis hereditaria typically begin?

Typical onset of Dyschromatosis universalis hereditaria is childhood. Age of onset can vary across affected individuals.

Which specialists treat Dyschromatosis universalis hereditaria?

15 specialists and care centers treating Dyschromatosis universalis hereditaria are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.