SAPHO syndrome is a rare disorder that can cause serious bone, joint, and skin problems. The acronym stands for the five major components of the disease: synovitis, acne, pustulosis, hyperostosis, and osteitis. Not all sufferers have every component, and the severity of the condition can range widely. Symptoms may include stiff joints, back pain, limited mobility, and a variety of skin problems. Treatment decisions are made based on a patient's specific symptoms but often include taking daily anti-inflammatory drugs and using topical creams.
The causes of SAPHO syndrome are not known. It is suspected to be at least partially an autoimmune disorder, in which the body's own immune system mistakenly attacks healthy bones, skin, and joint tissue. Doctors are unsure whether or not the disease is inherited because it is very rare, and most cases do not appear to run in families. No infectious agents or specific environmental toxins have been linked with SAPHO syndrome. Symptoms can potentially arise at any age, but it is usually seen in middle-aged and older adults.
Each of the components of SAPHO syndrome can cause unique symptoms and health problems. Synovitis is characterized by inflammation, swelling, and pain in body joints and the spine. Acne tends to be severe in people with SAPHO syndrome and outbreaks often cover the face and upper back. Pustulosis is another skin complication that leads to tender sores and pus-filled blisters on the hands, feet, or elsewhere on the body.
Bone disorders tend to cause the most problems for people with SAPHO syndrome. Hyperostosis is an overgrowth of bone tissue that can occur in the lower spine, legs, arms, or elsewhere in the body. It can cause painful aches and significantly limit flexibility. Osteitis, or bone inflammation, often accompanies hyperostosis and worsens symptoms.
A team of specialists may be involved in confirming a diagnosis of SAPHO syndrome. Skin conditions can usually be identified through physical exams, and diagnostic imaging scans such as x-rays can reveal bone inflammation, unusual growth patterns, and joint involvement. Blood samples may be analyzed to rule out other potential causes, such as infections and better-known autoimmune disorders.
Most patients with skin complications are prescribed topical corticosteroid ointments to ease pain and swelling. Isotretinoin is often given for chronic acne, and acitretin is prescribed to combat pustulosis. Oral steroids and other anti-inflammatory agents can help provide relief for sore bones and stiff joints. In addition, a patient may be instructed to limit his or her activity levels and attend regular physical therapy to safely build back bone strength. SAPHO syndrome can usually be managed effectively when patients stick with their treatment plans.