SAPHO syndrome is a rare autoimmune disease that affects bones, joints, and skin. Symptoms include joint pain, skin problems, and limited mobility. Treatment includes anti-inflammatory medication and topical creams. The cause is unknown, and diagnosis involves a team of specialists.
SAPHO syndrome is a rare disease that can cause serious problems with bones, joints and skin. The acronym stands for the five major components of the disease: synovitis, acne, pustulosis, hyperostosis and osteitis. Not all sufferers have all components and the severity of the condition can vary widely. Symptoms can include stiff joints, back pain, limited mobility and a variety of skin problems. Treatment decisions are made based on the patient’s specific symptoms, but often include taking anti-inflammatory medications daily and using topical creams.
The causes of SAPHO syndrome are not known. It is suspected to be at least in part an autoimmune disease, in which the body’s immune system mistakenly attacks healthy bone, skin, and joint tissue. Doctors aren’t sure whether or not the disease is inherited because it’s very rare and most cases don’t seem to run in families. No specific infectious agents or environmental toxins have been linked to SAPHO syndrome. Symptoms can potentially occur at any age, but are 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 the joints of the body 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 other parts of 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 other parts of the body. It can cause aching pains and significantly limit your 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 scans such as X-rays can reveal bone inflammation, unusual growth patterns, and joint involvement. Blood samples can be tested to rule out other potential causes, such as infections and more well-known autoimmune diseases.
Most patients with skin complications are prescribed topical corticosteroid ointments to relieve 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 relieve aching bones and stiff joints. Additionally, a patient may be instructed to limit their activity levels and attend regular physical therapy to safely strengthen their spine. SAPHO syndrome can usually be managed effectively when patients stick to their treatment plans.
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