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DISH can present with spinal stiffness on forward flexion/back extension, or with mild back pain. It is symptomatic for thoracic spinal pain in approximately 80% of patients. Back pain or stiffness is worse in the morning in almost two-thirds of patients. It may also be asymptomatic and discovered as an incidental radiological abnormality. Dysphagia from cervical spine osteophyte impingement of esophagus is reported in some cases. Similar calcification and ossification may be seen at peripheral entheseal sites, including the shoulder, iliac crest, ischial tuberosity, trochanters of the hip, tibial tuberosities, patellae, and bones of the hands and/or feet.
Diffuse idiopathic skeletal hyperostosis (DISH) is a non-inflammatory spondyloarthropathy which predominantly affects the spine. It is characterized by ankylosis and enthesopathy (ossification of the ligaments and entheses). It most commonly affects the thoracic and thoraco-lumbar spine, but involvement is variable and can include the entire spine.
Most patients suffer from only mild symptoms. Symptoms typically last approximately 13 months. Of patients without myelopathy at initial presentation, only 29% of them will develop myelopathy within 30 years.
An affected infant typically has the following triad of signs and symptoms: soft-tissue swelling, bone lesions, and irritability. The swelling occurs suddenly, is deep, firm, and may be tender. Lesions are often asymmetric and may affect several parts of the body. Affected bones have included the mandible, tibia, ulna, clavicle, scapula, ribs, humerus, femur, fibula, skull, ilium, and metatarsals. When the mandible (lower jaw bone) is affected, infants may refuse to eat, leading to failure to thrive.
Myeolography, including post-myelographic CT is likely the most effective imaging study an accurate diagnosis.
Chondrocalcinosis is calcification in hyaline and/or fibrocartilage. It can be seen on radiography.
Axial spondyloarthritis (also often referred to as axSpA) is a chronic, autoinflammatory disease predominantly affecting the axial skeleton (sacroiliac joints and spine). The most known member of the axial spondyloarthritis disease family is ankylosing spondylitis. Axial spondyloarthritis is an umbrella term that has been introduced in the year 2009 to characterize a diverse disease family that share clinical and genetic features, such as the involvement of the axial skeleton. The expression was introduced in order to unify (1) less severe forms of spondylitis, (2) the early phase of ankylosing spondylitis as well as (3) ankylosing spondylitis itself into one term.
A common cause of chondrocalcinosis is calcium pyrophosphate dihydrate crystal deposition disease (CPPD).
Excessive calcium (due to hypomagnesemia) has a potential relationship with chondrocalcinosis, and magnesium supplementation may reduce or alleviate symptoms. In some cases, arthritis from injury can cause chondrocalcinosis.
Other causes of chondrocalcinosis include:
- Hypercalcaemia, especially when caused by hyperparathyroidism
- Arthritis
- Gout
- Wilson disease
- Hemochromatosis
- Ochronosis
- Hypothyroidism
- Hyperoxalemia
- Acromegaly
- osteoarthritis
Infantile cortical hyperostosis is a self-limited inflammatory disorder of infants that causes bone changes, soft tissue swelling and irritability. The disease may be present at birth or occur shortly thereafter. The cause is unknown. Both familial and sporadic forms occur. It is also known as Caffey disease or Caffey's disease.
People suffering from sacroiliitis can often experience symptoms in a number of different ways, however it is commonly related to the amount of pressure that is put onto the sacroiliac joint. Sacroiliitis pain is typically axial, meaning that the location of the condition is also where the pain is occurring. Symptoms commonly include prolonged, inflammatory pain in the lower back region, hips or buttocks.
However, in more severe cases, pain can become more radicular and manifest itself in seemingly unrelated areas of the body including the legs, groin and feet.
Symptoms are typically aggravated by:
- Transitioning from sitting to standing
- Walking or standing for extended periods of time
- Running
- Climbing stairs
- Taking long strides
- rolling over in bed
Repeated, periodic joint effusions of the knee. Usually one knee is affected but sometimes both knees. Other joints may also be involved along with the knee. Effusions are large, restricting range of motion but significant pain is not a feature. There is usually stiffness. Tenderness of the joint may or may not be present. Aspirated synovial fluid is usually sterile but will sometimes show elevated cell count (>100 cells/mL) with 50% being polymorphonuclear leukocytes.
Onset of effusions are sudden with no particular trigger or stimulus. Each episode lasts for a few days to about a week and recurs in cycles of 7 to 11 days with extremes of 3 days to 30 days also reported. Sometimes the joint may begin to swell again as soon as the fluid has subsided. Where both knees are affected concurrently, as one joint ceases to swell the other may become involved.
The cycle of joints swellings have been reported as being very regular, even predictable. This has been a characteristic feature of IH in many case reports. However, over the longer-term especially, these cycles of effusion and recovery may not be as constant as first reported.
In women, many cases seem to begin at puberty. Episodes of knee swelling may coincide the menstrual cycle. In nearly all case reports, pregnancy seems to suppress the condition but after birth, during lactation, it returns.
In the main, patients are mostly free of other symptoms. Fever is rare. There no signs of local inflammation or lymphatic involvement. Laboratory tests are generally normal or within reference limits.
Osteophytes form because of the increase in a damaged joint's surface area. This is most common from the onset of arthritis. Osteophytes usually limit joint movement and typically cause pain.
Osteophytes form naturally on the back of the spine as a person ages and are a sign of degeneration in the spine. In this case, the spurs are not the source of back pains, but instead are the common symptom of a deeper problem. However, bone spurs on the spine can impinge on nerves that leave the spine for other parts of the body. This impingement can cause pain in both upper and lower limbs and a numbness or tingling sensations in the hands and feet because the nerves are supplying sensation to their dermatomes.
Spurs can also appear on the feet, either along toes or the heel, as well as on the hands. In extreme cases, bone spurs have grown along a person's entire skeletal structure: along the knees, hips, shoulders, ribs, arms and ankles. Such cases are only exhibited with multiple exostoses.
Osteophytes on the fingers or toes are known as Heberden's nodes (if on the distal interphalangeal joint) or Bouchard's nodes (if on the proximal interphalangeal joints).
Osteophytes may also be the end result of certain disease processes. Osteomyelitis, a bone infection, may leave the adjacent bone with a spur formation. Charcot foot, the neuropathic breakdown of the feet seen primarily in diabetics, can also leave bone spurs that may then become symptomatic.
Osteophytes, commonly referred to as bone spurs are bony projections that form along joint margins. They should not be confused with enthesophytes, which are bony projections that form at the attachment of a tendon or ligament. Osteophytes are not always distinguished from exostoses in any definite way, although in many cases there are a number of differences. Osteophytes are typically intra-articular (within the joint capsule).
Spondylitis is an inflammation of the vertebra. It is a form of spondylopathy. In many cases spondylitis involves one or more vertebral joints as well, which itself is called spondylarthritis.
Sacroiliitis (say-kroe-il-e-I-tus) is a medical condition caused by any inflammation within one, or both, of the sacroiliac joints. Sacroiliitis is a feature of spondyloarthropathies, such as axial spondyloarthritis (including ankylosing spondylitis), psoriatic arthritis, reactive arthritis or arthritis related to inflammatory bowel diseases, including ulcerative colitis or Crohn's disease. It is also the most common presentation of arthritis from brucellosis.
The disorder is more common in older adults. The disease is often occult until crystal deposits are coincidentally detected and diagnosed by a pathologist in various orthopedic specimens. It may be asymptomatic, or it can be associated with osteoarthritis, or it can present as an acute or chronic inflammatory arthritis that causes pain in one or more joints. The white blood cell count is often raised.
The arthritis is usually polyarticular (i.e., it leads to an inflammation of several joints in the body), although it may begin as monoarticular (i.e., confined to just one joint). CPPD crystals tend to form within articular tissues. In theory, any joint may be affected, but statistics show that the knees are the most commonly affected joints, as well as wrists and hips.
In many instances, patients may also have signs of carpal tunnel syndrome. This condition can also be associated with Milwaukee shoulder syndrome.
For a person with arthritis mutilans in the hands, the fingers become shortened by arthritis, and the shortening may become severe enough that the hand looks paw-like, with the first deformity occurring at the interphalangeal and metacarpophalangeal joints. The excess skin from the shortening of the phalanx bones becomes folded transversely, as if retracted into one another like opera glasses, hence the description "la main en lorgnette". As the condition worsens, luxation, phalangeal and metacarpal bone absorption, and skeletal architecture loss in the fingers occurs.
The primary symptom of camptocormia is abnormal forward bending of the torso. This bending becomes worse while walking but does not appear when the affected individual is lying down in a horizontal position. This alleviation of the condition indicates that it is a manifestation of another disease or ailment and is not due to a spine that is actually bent. This is somewhat ironic, since the medically accepted name for the condition is bent spine syndrome.
In an afflicted individual, the abnormal bending consists of an anterior flexion greater than 45 degrees. Because of this bending and the physical limitations caused by the conditions associated with the disease, it is usually impossible for an afflicted person to achieve a fully erect position. In addition, patients suffering from camptocormia often experience low back pain as a result of the condition. BSS often appears in individuals afflicted with Parkinson’s disease, muscular dystrophies, endocrine disorders, inflammatory conditions (myositis), or mitochondrial myopathies. As previously mentioned, the disease is more common in older individuals.
Hematologic manifestations related to bone marrow suppression and subsequent pancytopenia are a major source of morbidity and mortality. Additionally extramedullary hematopoiesis can result in liver and spleen dysfunction. Cranial nerve dysfunction and neurologic complications are usually associated with infantile osteopetrosis. Expansion of the skull bone leads to macrocephaly. Additionally, linear growth retardation that is not apparent at birth, delayed motor milestones and poor dentition can occur.
Craniomandibular osteopathy, also known as lion's jaw, is a developmental disease in dogs causing extensive bony changes in the mandible and skull. In this disease, a cyclical resorption of normal bone and replacement by immature bone occurs along the inner and outer surfaces of the affected bones. It usually occurs between the ages of 3 and 8 months. Breeds most commonly affected include the West Highland White Terrier, Scottish Terrier, Cairn Terrier, and Boston Terrier. It is rare in large-breed dogs, but it has been reported. Symptoms include firm swelling of the jaw, drooling, pain, and difficulty eating.
It is an inherited disease, especially in Westies, in which it has been recognized as an autosomal recessive trait. Canine distemper has also been indicated as a possible cause, as has "E. coli" infection, which could be why it is seen occasionally in large-breed dogs. Growth of lesions will usually stop around the age of one year, and possibly regress. This timing coincides with the normal completion of endochondral bone growth and ossification. If the disease is extensive, especially around the tympanic bulla (middle ear), then the prognosis is guarded.
A similar disease seen in young Bullmastiffs is known as calvarial hyperostotic syndrome. It is also similar to human infantile cortical hyperostosis. It is characterized by irregular, progressive bony proliferation and thickening of the cortical bone of the calvaria, which is part of the skull. Asymmetry of the lesions may occur, which makes it different from craniomandibular osteopathy. Symptoms include painful swelling of the skull, fever, and lymph node swelling. In most cases it is self-limiting.
Pott's disease is a tuberculous disease of the vertebrae marked by stiffness of the vertebral column, pain on motion, tenderness on pressure, prominence of certain vertebral spines, and occasionally abdominal pain, abscess formation, and paralysis.
Ankylosing spondylitis is an inflammatory disease involving the spine and sacroiliac joints, and is therefore also a form of spondylarthritis.
A combination of spondylitis and inflammation of the intervertebral disc space is termed a spondylodiscitis.
Spondylitis is one of the most common causes of back and neck pain, and results from inflammation of the vertebral joints. The condition is often not detected until it has fully developed and is causing pain. The pain is usually concentrated around the cervical region of the neck, shoulder and lower spine, with downward-moving stinging pain. Types of spondylitis include: cervical spondylitis – which affects the cervical spine, causing pain to spread the back of the neck; lumbar spondylitis – which causes pain in the lumbar region; and ankylosing spondylitis- which is primarily a disease that affects the sacroiliac joints, causing stiffness in the neck, jaw, shoulders, hips and knees.
Intermittent hydrarthrosis (IH), also known as "periodic synoviosis", "periodic benign synovitis", or "periodic hydrarthritis", is a chronic condition of unknown cause characterized by recurring, temporary episodes of fluid accumulation in the knee. While the knee is mainly involved, occasionally other joints such as the elbow or ankle can additionally be affected. Fluid accumulation in the joint can be extensive causing discomfort and impairing movement, although affected joints are not usually very painful. While the condition is chronic, it does not appear to progress to more destructive damage of the joint. It seems to affect slightly more women than men.
Episodes of swelling last several days or longer, can occur with regular or semi-regular frequency, typically one or two episodes per month. Between periods of effusion, knee swelling reduces dramatically providing largely symptomless intervals. Unlike some other rheumatological conditions such as rheumatoid arthritis, laboratory findings are usually within normal ranges or limits.
Clear treatment options have yet to be established. NSAIDs and COX2-inhibitors are generally not effective. Where this condition has been correctly diagnosed, various anti-rheumatic drugs as well as colchicine may be trialled to find the most effective option. More aggressive intra-articular treatment such chemical or radio-active synovectomy can also be helpful although benefits beyond 1 year have not been reported in literature.
When initially identified, camptocormia was classified as a psychogenic disease. Although the condition is sometimes a psychogenic manifestation, camptocormia typically originates from either muscular or neurological diseases. However, due to the wide variety of pathologies resulting in camptocormia, there is no singular cause that is most influential for the condition.
The generalized increase in bone density of the medullary portion predominates with relative sparing of the cortices. The axial and appendicular skeleton are uniformly involved. Malignant infantile osteopetrosis is known for exhibiting specific plain radiographic abnormalities:
- Loss of differentiation between the medullary and cortical portions of bone is a radiographic hallmark of infantile osteopetrosis
- Characteristic endobone or “bone-within-bone” appearance in the spine, or “sandwich vertebra” appearance, characterized by dense endplate sclerosis with sharp margins
- Characteristic endobone or “bone-within-bone” appearance in the pelvis and long bones of extremities where areas of osteosclerosis intermingle with areas of relatively hypodense bone.
- Failure of remodeling of the distal femoral and proximal humeral metaphyses giving the affected bones a funnel shaped appearance known as (Erlenmeyer flask deformity)
- Alternating radiolucent femoral metaphyseal bands
- Pathologic fractures
Enthesitis is inflammation of the entheses, the sites where tendons or ligaments insert into the bone. It is also called enthesopathy, or any pathologic condition involving the entheses. The entheses are any point of attachment of skeletal muscles to the bone, where recurring stress or inflammatory autoimmune disease can cause inflammation or occasionally fibrosis and calcification. One of the primary entheses involved in inflammatory autoimmune disease is at the heel, particularly the Achilles tendon.
It is associated with HLA B27 arthropathies like ankylosing spondylitis, psoriatic arthritis, and reactive arthritis. Symptoms include multiple points of tenderness at the heel, tibial tuberosity, iliac crest, and other tendon insertion sites.