SAPHO syndrome | |
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Other names | Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome |
Specialty | Rheumatology ![]() |
SAPHO syndrome includes a variety of inflammatory bone disorders that may be associated with skin changes. These diseases share some clinical, radiologic, and pathologic characteristics.
An entity initially known as chronic recurrent multifocal osteomyelitis was first described in 1972. [1] Subsequently, in 1978, [2] several cases of were associated with blisters on the palms and soles (palmoplantar pustulosis). Since then, a number of associations between skin conditions and osteoarticular disorders have been reported under a variety of names, including sternocostoclavicular hyperostosis, pustulotic arthro-osteitis, and acne-associated spondyloarthropathy. The term SAPHO (an acronym for synovitis, arthritis, pustulosis, hyperostosis, osteitis) was coined in 1987 [3] to represent this spectrum of inflammatory bone disorders that may or may not be associated with dermatologic pathology.
Peripheral arthritis has been reported in 92% of cases of SAPHO as well.[ citation needed ]
In children, the SAPHO syndrome is most likely to affect the metaphysis of long bones in the legs (tibia, femur, fibula), followed by clavicles and spine.
Bisphosphonate therapy has been suggested as a first-line therapeutic option in many case reports and series. [4] [5] [6]
Treatment with tumor necrosis factor alpha antagonists (TNF inhibitors) has been tried in a few patients with limited success. [7] Other drugs that are used in psoriatic arthritis, to which SAPHO syndrome is closely related, have also been used in this condition. They include NSAIDs, corticosteroids, sulfasalazine, methotrexate, ciclosporin and leflunomide. [8]
Some patients have responded to antibiotics. The rationale for their use is that Cutibacterium acnes, a bacterium known for its role in acne, has been isolated from bone biopsies of SAPHO patients. [7] [9]
Rheumatology is a branch of medicine devoted to the diagnosis and management of disorders whose common feature is inflammation in the bones, muscles, joints, and internal organs. Rheumatology covers more than 100 different complex diseases, collectively known as rheumatic diseases, which includes many forms of arthritis as well as lupus and Sjögren's syndrome. Doctors who have undergone formal training in rheumatology are called rheumatologists.
Tietze syndrome is a benign inflammation of one or more of the costal cartilages. It was first described in 1921 by German surgeon Alexander Tietze and was subsequently named after him. The condition is characterized by tenderness and painful swelling of the anterior (front) chest wall at the costochondral, sternocostal, or sternoclavicular junctions. Tietze syndrome affects the true ribs and has a predilection for the 2nd and 3rd ribs, commonly affecting only a single joint.
Ankylosing spondylitis (AS) is a type of arthritis from the disease spectrum of axial spondyloarthritis. It is characterized by long-term inflammation of the joints of the spine, typically where the spine joins the pelvis. With AS, eye and bowel problems—as well as back pain—may occur. Joint mobility in the affected areas sometimes worsens over time. Ankylosing spondylitis is believed to involve a combination of genetic and environmental factors. More than 90% of people affected in the UK have a specific human leukocyte antigen known as the HLA-B27 antigen. The underlying mechanism is believed to be autoimmune or autoinflammatory. Diagnosis is based on symptoms with support from medical imaging and blood tests. AS is a type of seronegative spondyloarthropathy, meaning that tests show no presence of rheumatoid factor (RF) antibodies.
Spondyloarthritis (SpA), also known as spondyloarthropathy, is a collection of clinical syndromes that are connected by genetic predisposition and clinical manifestations. The best-known clinical subtypes are enteropathic arthritis (EA), psoriatic arthritis (PsA), ankylosing spondylitis (AS), and reactive arthritis (ReA). Spondyloarthritis typically presents with inflammatory back pain and asymmetrical arthritis, primarily affecting the lower limbs, and enthesitis, inflammation at bone-adhering ligaments, tendons, or joint capsules.
Rheumatism or rheumatic disorders are conditions causing chronic, often intermittent pain affecting the joints or connective tissue. Rheumatism does not designate any specific disorder, but covers at least 200 different conditions, including arthritis and "non-articular rheumatism", also known as "regional pain syndrome" or "soft tissue rheumatism". There is a close overlap between the term soft tissue disorder and rheumatism. Sometimes the term "soft tissue rheumatic disorders" is used to describe these conditions.
Psoriatic arthritis (PsA) is a long-term inflammatory arthritis that occurs in people affected by the autoimmune disease psoriasis. The classic features of psoriatic arthritis include dactylitis, skin lesions, and nail lesions. Damage to the nails can include small depressions in the nail (pitting), thickening of the nails, and detachment of the nail from the nailbed. Skin damage consistent with psoriasis frequently occur before the onset of psoriatic arthritis but psoriatic arthritis can precede the rash in 15% of affected individuals. It is classified as a type of seronegative spondyloarthropathy.
Osteomyelitis (OM) is an infection of bone. Symptoms may include pain in a specific bone with overlying redness, fever, and weakness. The feet, spine, and hips are the most commonly involved bones in adults.
Paget's disease of bone is a condition involving cellular remodeling and deformity of one or more bones. The affected bones show signs of dysregulated bone remodeling at the microscopic level, specifically excessive bone breakdown and subsequent disorganized new bone formation. These structural changes cause the bone to weaken, which may result in deformity, pain, fracture or arthritis of associated joints.
Bone pain is pain coming from a bone, and is caused by damaging stimuli. It occurs as a result of a wide range of diseases or physical conditions or both, and may severely impair the quality of life.
Pamidronic acid or pamidronate disodium or APD, is a nitrogen-containing bisphosphonate used to prevent osteoporosis.
Sapho may refer to:
Leflunomide, sold under the brand name Arava among others, is an immunosuppressive disease-modifying antirheumatic drug (DMARD), used in active moderate-to-severe rheumatoid arthritis and psoriatic arthritis. It is a pyrimidine synthesis inhibitor that works by inhibiting dihydroorotate dehydrogenase.
Hyperostosis is an excessive growth of bone. It may lead to exostosis. It occurs in many musculoskeletal disorders.
Acne fulminans is a severe form of the skin disease, acne, which can occur after unsuccessful treatment for another form of acne, acne conglobata. The condition is thought to be an immunologically induced disease in which elevated level of testosterone causes a rise in sebum and population of Cutibacterium acnes bacteria. The increase in the amount of C acnes or related antigens may trigger the immunologic reaction in some individuals and lead to an occurrence of acne fulminans. In addition to testosterone, isotretinoin may also precipitate acne fulminans, possibly related to highly increased levels of C acnes antigens in the patient's immune system. Acne fulminans is a rare disease. Over the past several years, fewer cases of this disease have occurred, possibly because of earlier and better treatment of acne. Approximately 100 patients with acne fulminans have been described.
Bone disease refers to the medical conditions which affect the bone.
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare condition (1:1,000,000), in which the bones have lesions, inflammation, and pain. It is called multifocal because it can appear in different parts of the body, primarily bones, and osteomyelitis because it is very similar to that disease, although CRMO appears to be without any infection.
A pathologic fracture is a bone fracture caused by weakness of the bone structure that leads to decrease mechanical resistance to normal mechanical loads. This process is most commonly due to osteoporosis, but may also be due to other pathologies such as cancer, infection, inherited bone disorders, or a bone cyst. Only a small number of conditions are commonly responsible for pathological fractures, including osteoporosis, osteomalacia, Paget's disease, Osteitis, osteogenesis imperfecta, benign bone tumours and cysts, secondary malignant bone tumours and primary malignant bone tumours.
PAPA syndrome is a rare genetic disorder characterised by its effects on skin and joints. The acronym PAPA stands for pyogenic arthritis, pyoderma gangrenosum and acne.
Diffuse idiopathic skeletal hyperostosis (DISH) is a condition characterized by abnormal calcification/bone formation (hyperostosis) of the soft tissues surrounding the joints of the spine, and also of the peripheral or appendicular skeleton. In the spine, there is bone formation along the anterior longitudinal ligament and sometimes the posterior longitudinal ligament, which may lead to partial or complete fusion of adjacent vertebrae. The facet and sacroiliac joints tend to be uninvolved. The thoracic spine is the most common level involved. In the peripheral skeleton, DISH manifests as a calcific enthesopathy, with pathologic bone formation at sites where ligaments and tendons attach to bone.
Enteropathic arthropathy commonly referred to as enteropathic arthritis, is a type of arthritis linked to Crohn's disease, ulcerative colitis, and chronic inflammatory bowel diseases.