Overview
SAPHO syndrome is a rare condition whose name stands for Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. These five features describe the main ways the disease affects the body — through inflammation of joints (synovitis), severe skin problems like acne and pustulosis (blisters filled with pus, often on the palms and soles), abnormal bone growth (hyperostosis), and inflammation of bone (osteitis). Not every patient will have all five features, and symptoms can appear at different times, which often makes diagnosis difficult. The disease primarily affects the bones, joints, and skin. The most commonly involved bones are those of the front chest wall (sternum, collarbones, and ribs), but the spine, pelvis, and long bones of the arms and legs can also be affected. Patients often experience deep bone pain, swelling, and stiffness. Skin involvement most commonly appears as palmoplantar pustulosis (painful blisters on the hands and feet) or severe cystic acne. SAPHO syndrome is considered an autoinflammatory condition, meaning the immune system causes inflammation without a clear infection or autoimmune trigger. The exact cause remains unknown, though some researchers believe it may involve an abnormal immune response possibly triggered by low-grade bacterial infection, particularly Propionibacterium acnes. Treatment focuses on controlling pain and inflammation and may include nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, antibiotics, bisphosphonates, disease-modifying antirheumatic drugs (DMARDs), and biologic therapies such as TNF inhibitors. While there is no cure, many patients can achieve good symptom control with appropriate treatment.
Also known as:
Key symptoms:
Deep bone pain, especially in the chest wallSwelling and tenderness over the collarbones or breastbonePainful blisters on the palms of the hands and soles of the feetSevere cystic acne, often on the back or faceJoint pain and stiffnessSwelling of jointsAbnormal thickening of bones visible on imagingBack pain or spinal stiffnessFatigueSkin rashes or pustulesLimited range of motion in affected jointsFlare-ups that come and go over months or yearsWarmth and redness over affected bones
Clinical phenotype terms (30)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
3 eventsFondation Hôpital Saint-Joseph — NA
National Institute of Geriatrics, Rheumatology and Rehabilitation, Poland — PHASE2, PHASE3
Fondation Hôpital Saint-Joseph
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for SAPHO syndrome.
3 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
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 SAPHO syndrome.
Community
No community posts yet. Be the first to share your experience with SAPHO syndrome.
Start the conversation →Latest news about SAPHO syndrome
Disease timeline:
New recruiting trial: Typological Study of Sleep Pathologies During Psoriatic Rheumatism and SAPHO Syndrome: Prospective Study Within the Paris Saint-Joseph Hospital Group"
A new clinical trial is recruiting patients for SAPHO syndrome
New recruiting trial: Study of the Pathophysiological Mechanisms Involved in the SAPHO Syndrome: Genetic Component and Immune Response
A new clinical trial is recruiting patients for SAPHO syndrome
New recruiting trial: Study of the Efficacy and Safety of Etanercept Treatment in Patients With SAPHO Syndrome
A new clinical trial is recruiting patients for SAPHO syndrome
New trial: Study of the Pathophysiological Mechanisms Involved in the SAPHO Syndrome: Genetic Component and Imm
Phase NA trial recruiting. biological sampling
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.Which features of SAPHO syndrome do I have, and how severe is my disease?,What treatment options do you recommend starting with, and what are the potential side effects?,How often should I have follow-up imaging to monitor my bone involvement?,Are there any clinical trials or newer treatments I should consider?,What can I do to manage pain and fatigue in my daily life?,Should I see a dermatologist for my skin symptoms in addition to a rheumatologist?,What signs should prompt me to seek urgent medical attention?
Common questions about SAPHO syndrome
What is SAPHO syndrome?
SAPHO syndrome is a rare condition whose name stands for Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. These five features describe the main ways the disease affects the body — through inflammation of joints (synovitis), severe skin problems like acne and pustulosis (blisters filled with pus, often on the palms and soles), abnormal bone growth (hyperostosis), and inflammation of bone (osteitis). Not every patient will have all five features, and symptoms can appear at different times, which often makes diagnosis difficult. The disease primarily affects the bones, joints, and skin.
How is SAPHO syndrome inherited?
SAPHO syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for SAPHO syndrome?
Yes — 3 recruiting clinical trials are currently listed for SAPHO syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat SAPHO syndrome?
5 specialists and care centers treating SAPHO syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.