Overview
Amyloidosis cutis dyschromia (ACD) is a very rare inherited skin condition in which abnormal proteins called amyloid build up in the skin. This leads to distinctive changes in skin color, creating a mottled or speckled pattern of dark (hyperpigmented) and light (hypopigmented) patches, often described as looking like freckle-like spots mixed with lighter areas. The condition typically appears in early childhood and mainly affects the arms, legs, and trunk. In addition to the color changes, some patients may experience mild itchiness, and the skin may appear slightly thickened or waxy in affected areas. Small blistering or skin fragility has also been reported in some cases. ACD is caused by mutations in specific genes and follows an autosomal recessive inheritance pattern, meaning a child must inherit a faulty copy of the gene from both parents to develop the condition. The disease has been most commonly reported in families from East Asian and Southeast Asian backgrounds, particularly in Japanese, Chinese, and Thai populations. While the skin changes can be cosmetically concerning, ACD generally does not affect internal organs, which distinguishes it from more serious systemic forms of amyloidosis. There is currently no cure for ACD, and treatment focuses on managing symptoms such as itching and protecting the skin. Dermatologists and clinical geneticists are the main specialists involved in care.
Also known as:
Key symptoms:
Mottled or speckled skin with dark and light patchesFreckle-like dark spots on the skinLight or pale patches of skin mixed with darker areasSkin color changes mainly on arms, legs, and trunkMild itching of affected skinSlightly thickened or waxy-feeling skinSkin changes that spread over timeSmall blisters or skin fragility in some casesShort stature in some patientsSkin changes that begin in early childhood
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Amyloidosis cutis dyschromia.
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Specialists
View all specialists →No specialists are currently listed for Amyloidosis cutis dyschromia.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Amyloidosis cutis dyschromia.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 for our family to confirm the diagnosis?,Are there any treatments that can slow down or stop the skin changes from spreading?,Should other family members be tested to see if they are carriers?,What can we do to manage itching and protect the skin?,Are there any clinical trials or new research for this condition?,Should we see a counselor or psychologist to help cope with the emotional impact?,Do we need any tests to make sure the amyloid is not affecting internal organs?
Common questions about Amyloidosis cutis dyschromia
What is Amyloidosis cutis dyschromia?
Amyloidosis cutis dyschromia (ACD) is a very rare inherited skin condition in which abnormal proteins called amyloid build up in the skin. This leads to distinctive changes in skin color, creating a mottled or speckled pattern of dark (hyperpigmented) and light (hypopigmented) patches, often described as looking like freckle-like spots mixed with lighter areas. The condition typically appears in early childhood and mainly affects the arms, legs, and trunk. In addition to the color changes, some patients may experience mild itchiness, and the skin may appear slightly thickened or waxy in affect
How is Amyloidosis cutis dyschromia inherited?
Amyloidosis cutis dyschromia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Amyloidosis cutis dyschromia typically begin?
Typical onset of Amyloidosis cutis dyschromia is childhood. Age of onset can vary across affected individuals.