Acroosteolysis-keloid-like lesions-premature aging syndrome

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ORPHA:363665OMIM:601812E34.8
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Overview

Acroosteolysis-keloid-like lesions-premature aging syndrome is an extremely rare genetic condition that affects multiple body systems. The disease is characterized by three main features: acroosteolysis (gradual dissolving or destruction of the bones at the tips of the fingers and toes), keloid-like skin lesions (thick, raised, scar-like growths on the skin that develop without any prior injury), and premature aging (progeroid features), meaning that affected individuals appear much older than their actual age. Additional features may include short stature, joint stiffness, skin changes such as thinning or tightening, and dental abnormalities. Because the bones in the fingers and toes break down over time, patients may experience pain, reduced hand function, and difficulty with fine motor tasks. The premature aging features can include thinning hair, wrinkled skin, and loss of fat under the skin. This condition is so rare that only a handful of cases have been described in the medical literature. There is currently no cure, and treatment focuses on managing individual symptoms. Care typically involves a team of specialists including dermatologists, orthopedic surgeons, and geneticists who work together to address the various aspects of the disease and improve quality of life.

Also known as:

Key symptoms:

Dissolving or loss of bone at the fingertips and toesThick, raised scar-like skin growths (keloid-like lesions)Premature aging appearanceShort statureJoint stiffness or limited joint movementThinning or wrinkled skinLoss of fat under the skinThinning hair or hair lossDental problems or tooth lossShortened or clubbed fingersPain in the hands and feetReduced hand grip strength

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Acroosteolysis-keloid-like lesions-premature aging syndrome.

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No actively recruiting trials found for Acroosteolysis-keloid-like lesions-premature aging syndrome at this time.

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No specialists are currently listed for Acroosteolysis-keloid-like lesions-premature aging syndrome.

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 Acroosteolysis-keloid-like lesions-premature aging syndrome.

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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.What is the expected progression of bone loss in my child's fingers and toes?,What are the best options for treating the keloid-like skin lesions?,Should we pursue genetic testing, and what type would be most helpful?,Are there any clinical trials or research studies we could participate in?,What therapies can help maintain hand and foot function over time?,How should we monitor for new complications as the disease progresses?,Can you refer us to a multidisciplinary team experienced with this type of condition?

Common questions about Acroosteolysis-keloid-like lesions-premature aging syndrome

What is Acroosteolysis-keloid-like lesions-premature aging syndrome?

Acroosteolysis-keloid-like lesions-premature aging syndrome is an extremely rare genetic condition that affects multiple body systems. The disease is characterized by three main features: acroosteolysis (gradual dissolving or destruction of the bones at the tips of the fingers and toes), keloid-like skin lesions (thick, raised, scar-like growths on the skin that develop without any prior injury), and premature aging (progeroid features), meaning that affected individuals appear much older than their actual age. Additional features may include short stature, joint stiffness, skin changes such a

How is Acroosteolysis-keloid-like lesions-premature aging syndrome inherited?

Acroosteolysis-keloid-like lesions-premature aging syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Acroosteolysis-keloid-like lesions-premature aging syndrome typically begin?

Typical onset of Acroosteolysis-keloid-like lesions-premature aging syndrome is childhood. Age of onset can vary across affected individuals.