Dyschromatosis symmetrica hereditaria

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ORPHA:41OMIM:127400L81.8
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15Specialists8Treatment centers

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Overview

Dyschromatosis symmetrica hereditaria (DSH), also known as reticulate acropigmentation of Dohi, is a rare inherited skin condition that causes patches of both darker and lighter skin to appear on the backs of the hands and feet. The name describes what you see: 'dyschromatosis' means abnormal coloring, 'symmetrica' means it appears on both sides of the body equally, and 'hereditaria' means it is passed down through families. The skin changes usually appear in early childhood and tend to stabilize by the time a person reaches adulthood. The face may also show small freckle-like spots, while the arms and legs are generally not affected. The condition is caused by changes (mutations) in a gene called ADAR1, which plays a role in how the body processes genetic information inside cells. DSH does not affect internal organs, and most people with this condition live a completely normal, healthy life. The main concern is cosmetic — the uneven skin coloring can sometimes cause emotional distress or self-consciousness, especially in children and teenagers. There is no cure for DSH, and treatment is focused on managing appearance. Options include camouflage makeup, sun protection to prevent worsening of the pigment changes, and in some cases laser therapy. Because the condition is benign and does not shorten lifespan, the main goal of care is supporting the emotional well-being of affected individuals.

Also known as:

Key symptoms:

Mixed patches of darker (hyperpigmented) and lighter (hypopigmented) skin on the backs of the hands and feetFreckle-like spots on the face, especially the cheeksSkin color changes that appear symmetrically on both sides of the bodySkin changes that first appear in infancy or early childhoodGradual spreading of skin patches during childhood that stabilizes in adulthoodNo pain or itching associated with the skin patchesNormal skin texture — the patches are only changes in color, not raised or rough

Clinical phenotype terms (4)— hover any for plain English
Torsion dystoniaHP:0001304Macular hypopigmentationHP:0007988Macular hyperpigmentationHP:0011509
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

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 symmetrica hereditaria.

View clinical trials →

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

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

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

Specialists

15 foundView all specialists →
QM
Qian Ma
STANFORD, CA
Specialist
2 Dyschromatosis symmetrica hereditaria publications
LC
Lingyi Che
Specialist
2 Dyschromatosis symmetrica hereditaria publications
HG
Hongping Ge
Specialist
1 Dyschromatosis symmetrica hereditaria publication
NZ
Na Zhang
Specialist
1 Dyschromatosis symmetrica hereditaria publication
XC
Xinru Chen
Specialist
1 Dyschromatosis symmetrica hereditaria publication
MW
Meiyan Wang
Specialist
1 Dyschromatosis symmetrica hereditaria publication
TY
Tianhui Ye
Specialist
1 Dyschromatosis symmetrica hereditaria publication
DZ
Deng Zhang
INDIANAPOLIS, IN
Specialist
1 Dyschromatosis symmetrica hereditaria publication
XO
Xiaoliang Ouyang
Specialist
1 Dyschromatosis symmetrica hereditaria publication
SZ
Shengcai Zhu
Specialist
1 Dyschromatosis symmetrica hereditaria publication
XW
Xiuping Wang
QUINCY, MA
Specialist
1 Dyschromatosis symmetrica hereditaria publication
ZX
Zhen Xiao
BRONX, NY
Specialist
1 Dyschromatosis symmetrica hereditaria publication
YT
Yanping Tan
Specialist
1 Dyschromatosis symmetrica hereditaria publication
YZ
Yunxia Zhu
RALEIGH, NC
Specialist
1 Dyschromatosis symmetrica hereditaria publication
LW
Liang Wu
MERIDIAN, ID
Specialist
1 Dyschromatosis symmetrica 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 symmetrica hereditaria.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Dyschromatosis symmetrica 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.Is genetic testing recommended to confirm the diagnosis, and should other family members be tested?,What sun protection measures are most important for my child, and will sun exposure make the skin changes worse?,Are there any laser or cosmetic treatments that might help, and what results can realistically be expected?,Will the skin patches spread or change as my child gets older?,Are there any other health conditions associated with DSH that I should watch for?,Where can I find support groups or resources for families affected by rare skin conditions?,What should I tell my child's school or teachers about this condition?

Common questions about Dyschromatosis symmetrica hereditaria

What is Dyschromatosis symmetrica hereditaria?

Dyschromatosis symmetrica hereditaria (DSH), also known as reticulate acropigmentation of Dohi, is a rare inherited skin condition that causes patches of both darker and lighter skin to appear on the backs of the hands and feet. The name describes what you see: 'dyschromatosis' means abnormal coloring, 'symmetrica' means it appears on both sides of the body equally, and 'hereditaria' means it is passed down through families. The skin changes usually appear in early childhood and tend to stabilize by the time a person reaches adulthood. The face may also show small freckle-like spots, while the

How is Dyschromatosis symmetrica hereditaria inherited?

Dyschromatosis symmetrica hereditaria follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Dyschromatosis symmetrica hereditaria typically begin?

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

Which specialists treat Dyschromatosis symmetrica hereditaria?

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