OBSOLETE: Juvenile-onset SAPHO syndrome

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ORPHA:324989
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Overview

SAPHO syndrome stands for Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. It is a rare condition that affects the bones, joints, and skin. When it begins during childhood or the teenage years, it is referred to as juvenile-onset SAPHO syndrome. This Orphanet entry (324989) is now marked as obsolete, meaning it has been retired or merged into the broader SAPHO syndrome classification. The condition causes painful inflammation in the bones (osteitis) and excessive bone growth (hyperostosis), most commonly in the chest wall, spine, and long bones. Skin problems such as severe acne or pustulosis (blistering skin rash, often on the palms and soles) frequently accompany the bone symptoms. Joint swelling and pain (synovitis) can also occur. The exact cause of SAPHO syndrome is not fully understood, but it is thought to involve an abnormal immune or inflammatory response. Treatment focuses on controlling pain and inflammation using nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, bisphosphonates, and sometimes biologic medications. In children and teenagers, early recognition and treatment are important to prevent bone damage and support normal growth and development. The disease tends to follow a relapsing and remitting course, meaning symptoms can flare up and then improve over time.

Also known as:

Key symptoms:

Bone pain, especially in the chest wall, spine, or long bonesSwollen and painful jointsSevere acne, often on the face, back, or chestBlistering skin rash on the palms of the hands or soles of the feetExcessive bone growth visible on imagingStiffness in the joints, especially in the morningTenderness over the collarbone or breastboneFatigueFever during flare-upsReduced range of motion in affected jointsSwelling near the affected bones

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Juvenile

Begins in the teen years

Orphanet ↗NORD ↗

Treatments

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

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

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

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What specific type of SAPHO syndrome does my child have, and how severe is it?,What treatment options are best for my child's age and symptoms?,How will we monitor for bone damage or complications over time?,Are there any activities my child should avoid during flare-ups?,What are the side effects of the recommended medications?,How often will my child need follow-up imaging or blood tests?,Should my child see a dermatologist for the skin symptoms as well?

Common questions about OBSOLETE: Juvenile-onset SAPHO syndrome

What is OBSOLETE: Juvenile-onset SAPHO syndrome?

SAPHO syndrome stands for Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. It is a rare condition that affects the bones, joints, and skin. When it begins during childhood or the teenage years, it is referred to as juvenile-onset SAPHO syndrome. This Orphanet entry (324989) is now marked as obsolete, meaning it has been retired or merged into the broader SAPHO syndrome classification. The condition causes painful inflammation in the bones (osteitis) and excessive bone growth (hyperostosis), most commonly in the chest wall, spine, and long bones. Skin problems such as severe acne or pus

How is OBSOLETE: Juvenile-onset SAPHO syndrome inherited?

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

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

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