Living with Dyschromatosis universalis hereditaria
A skin condition with scattered dark and light spots all over the body, beginning in infancy or childhood.
Understanding Dyschromatosis universalis hereditaria
People have both darker and lighter flat skin spots (macules) spread across the body. It usually begins in infancy or childhood. Some people also have hearing loss or sun-sensitive skin. Short height has been listed as less common.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dark flat skin spots (hyperpigmented macules)
- Light patches of skin (hypopigmentation)
- Freckling
- Café-au-lait spots
- Hearing loss
- Sun-sensitive skin
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in ABCB6 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Skin Disease Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the ABCB6 gene cause this condition. It can be autosomal dominant (one changed copy is enough) or autosomal recessive (a changed copy from each parent).
Also known as: duh; dyschromatosis universalis
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Dyschromatosis universalis hereditaria.
Explore research for Dyschromatosis universalis hereditaria
Explore actively recruiting Dyschromatosis universalis hereditaria studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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