SAPHO syndrome is a rare inflammatory condition that affects the skin, bones and joints, causing chronic pain and swelling that can persist or relapse over many years. The name is an acronym for its main features: synovitis, acne, pustulosis, hyperostosis and osteitis, though not all features need to be present for a diagnosis to be made.
The condition is often poorly recognised because its combination of skin and musculoskeletal symptoms can appear unrelated at first, and individual features may be mistaken for other, more common skin or joint conditions. This frequently results in a delay between the onset of symptoms and a confirmed diagnosis.
Without appropriate assessment and management, SAPHO syndrome can lead to persistent bone and joint pain, chronic skin flares, structural changes in affected bones and a significant impact on daily function and quality of life.
What is SAPHO syndrome?
SAPHO syndrome is a chronic inflammatory disorder that affects the bones, joints and skin. It is considered part of a wider group of autoinflammatory bone conditions and shares features with the spondyloarthropathies, although its exact underlying cause remains incompletely understood.
Inflammation in SAPHO syndrome typically develops within bone, at the sites where bone meets cartilage or connective tissue, most often affecting the front of the chest wall, spine and pelvis. Alongside this, associated skin conditions such as severe acne or palmoplantar pustulosis often occur, either at the same time as bone symptoms or at a different point in the course of the disease.
SAPHO syndrome most commonly begins in adulthood, typically between the ages of 30 and 50, and affects women somewhat more often than men, although it can occur at any age, including in children and adolescents.
What are the symptoms of SAPHO syndrome?
Symptoms of SAPHO syndrome vary between individuals and can develop gradually, often following a relapsing and remitting course with periods of flare followed by partial or complete improvement.
Signs and consequences of SAPHO syndrome may include:
- Persistent pain and swelling of the chest wall, particularly around the sternum and collarbones
- Back or pelvic pain related to inflammation of the spine or sacroiliac joints
- Swelling and tenderness of peripheral joints
- Severe or persistent acne, or pustules on the palms of the hands and soles of the feet
- Fatigue and, during active flares, low-grade fever
Because SAPHO syndrome combines skin and musculoskeletal features that can appear separately, early recognition of the pattern linking them is particularly important.
When should you seek care for SAPHO syndrome?
You should seek specialist assessment if you have persistent chest wall, spinal or joint pain alongside severe acne or pustules on the hands and feet, or if you have unexplained bone pain that has not responded to standard treatment.
Early assessment allows treatment to begin before structural bone changes develop, helping to reduce long-term pain and preserve function.
What causes SAPHO syndrome?
The exact cause of SAPHO syndrome is not fully understood, but it is thought to result from a combination of immune dysregulation, genetic susceptibility and, in some cases, low-grade infection triggering an abnormal inflammatory response in bone. Recognised risk factors and associations include:
- Female sex, although the condition also affects men
- Onset typically between the ages of 30 and 50
- A personal or family history of psoriasis or severe acne
- A personal or family history of inflammatory bowel disease
- Presence of palmoplantar pustulosis
- Possible low-grade bacterial infection, including with Cutibacterium acnes, in some cases
- Genetic susceptibility, with some overlap with the spondyloarthropathies
- Associated autoimmune or autoinflammatory conditions
- Smoking, which may be associated with more severe skin involvement
How do we diagnose SAPHO syndrome?
Diagnosis is based on a combination of clinical assessment, imaging and, where necessary, exclusion of other conditions such as infection or malignancy. There is no single test that confirms SAPHO syndrome, and the diagnosis often relies on recognising the characteristic pattern of bone, joint and skin involvement together.
Dr Nuttall will begin with a detailed review of your symptoms, skin history, medical history and family history, together with a physical examination. Diagnostic tests may include:
- MRI of the chest wall, spine or pelvis, to identify areas of active bone inflammation (osteitis)
- X-rays or CT imaging, to assess bone changes such as hyperostosis or structural remodelling
- Bone scan, which can help identify multiple sites of bone involvement, including the characteristic pattern seen at the sternocostoclavicular region
- Blood tests to assess inflammatory markers and exclude other causes
- Skin assessment, and occasionally bone biopsy, where the diagnosis remains uncertain or infection needs to be excluded
Different patients require different investigations, and your diagnostic pathway will be tailored to your symptoms and clinical findings.
SAPHO syndrome treatment and management:
Treatment is aimed at controlling inflammation, relieving pain, managing associated skin disease and preventing long-term structural bone changes. The approach is tailored to your individual pattern of bone, joint and skin involvement.
- Non-steroidal anti-inflammatory drugs (NSAIDs), which are usually the first-line treatment for bone and joint pain
- Bisphosphonates, which can help reduce bone pain and inflammation in osteitis
- Disease-modifying anti-rheumatic drugs (DMARDs), such as methotrexate or sulfasalazine, for persistent joint or bone symptoms
- Biologic therapies, such as TNF inhibitors, for people with disease that has not responded to other treatments
- Antibiotics, in cases where an underlying low-grade infection is suspected to be contributing
- Targeted treatment of associated skin disease, such as acne or palmoplantar pustulosis
- Physiotherapy to maintain mobility and function of affected joints
- Regular specialist review to monitor disease activity and adjust treatment as needed
Dr Nuttall will tailor treatment to reduce inflammation, manage associated skin disease, and support your long-term function and quality of life.
