OBSOLETE: Adult-onset SAPHO syndrome

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Overview

SAPHO syndrome is a condition that affects the bones, joints, and skin. The name SAPHO stands for Synovitis (joint inflammation), Acne, Pustulosis (skin blisters, often on the palms and soles), Hyperostosis (excess bone growth), and Osteitis (bone inflammation). When it begins in adulthood, it is referred to as adult-onset SAPHO syndrome. This entry has been marked as obsolete in medical databases, meaning it has been reclassified or merged into the broader SAPHO syndrome category, as the condition is now generally considered a single entity regardless of age of onset. People with SAPHO syndrome typically experience bone pain, especially in the chest wall (particularly the collarbone and breastbone area), along with skin problems such as severe acne or pustulosis palmoplantaris (painful blisters on the hands and feet). The joints may become swollen and stiff. The condition is thought to involve an abnormal inflammatory response, though the exact cause remains unclear. It is not considered a classic genetic disease, but some immune system and inflammatory pathways may play a role. Treatment focuses on controlling inflammation and managing symptoms. Options include nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, bisphosphonates (which help with bone inflammation), antibiotics, and in more severe cases, biologic therapies such as TNF inhibitors. While there is no cure, many patients can achieve good symptom control with the right combination of treatments.

Also known as:

Key symptoms:

Bone pain, especially in the chest wall, collarbone, and breastboneJoint swelling and stiffnessSevere acne, often on the back or facePainful blisters on the palms of the hands and soles of the feetExcess bone growth visible on imagingInflammation of the spine or sacroiliac jointsFatigueSkin rashes or pustulesTenderness over affected bonesReduced range of motion in affected jointsChronic or recurring pain episodes

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Adult-onset SAPHO syndrome.

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No actively recruiting trials found for OBSOLETE: Adult-onset SAPHO syndrome at this time.

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No specialists are currently listed for OBSOLETE: Adult-onset SAPHO 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 OBSOLETE: Adult-onset SAPHO syndrome.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What type of SAPHO syndrome do I have, and which bones and joints are affected?,What treatment options are best for my specific symptoms?,How often should I have imaging or blood tests to monitor my condition?,Are there any clinical trials I might be eligible for?,What should I do if my symptoms suddenly get worse?,Can this condition affect other parts of my body over time?,Are there lifestyle changes that can help manage my symptoms?

Common questions about OBSOLETE: Adult-onset SAPHO syndrome

What is OBSOLETE: Adult-onset SAPHO syndrome?

SAPHO syndrome is a condition that affects the bones, joints, and skin. The name SAPHO stands for Synovitis (joint inflammation), Acne, Pustulosis (skin blisters, often on the palms and soles), Hyperostosis (excess bone growth), and Osteitis (bone inflammation). When it begins in adulthood, it is referred to as adult-onset SAPHO syndrome. This entry has been marked as obsolete in medical databases, meaning it has been reclassified or merged into the broader SAPHO syndrome category, as the condition is now generally considered a single entity regardless of age of onset. People with SAPHO syndr

How is OBSOLETE: Adult-onset SAPHO syndrome inherited?

OBSOLETE: Adult-onset SAPHO syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does OBSOLETE: Adult-onset SAPHO syndrome typically begin?

Typical onset of OBSOLETE: Adult-onset SAPHO syndrome is adult. Age of onset can vary across affected individuals.