Made by DATEXIS (Data Science and Text-based Information Systems) at Beuth University of Applied Sciences Berlin
Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
Chronic recurrent multifocal osteomyelitis (CRMO) ("multifocal" because it can erupt in different sites, primarily bones; "osteomyelitis" because it is very similar to that disease but appears to be without any infection), also known as chronic recurring multifocal osteomyelitis, is a rare condition (1:1,000,000), in which the bones have lesions, inflammation, and pain. Its definition is evolving. Many doctors and articles described CRMO as an autoimmune disease that has symptoms similar to osteomyelitis, but without the infection. Some doctors thought CRMO was related to SAPHO syndrome. Research now classifies CRMO as an inherited autoinflammatory disease but have yet to isolate the exact gene responsible for it. Some specialists believe they have discovered a link between CRMO with a rare allele of marker D18S60, resulting in a haplotype relative risk (HRR) of 18. Other experts found that "mutations in LPIN2 cause a syndromic form of chronic recurrent multifocal osteomyelitis known as Majeed syndrome, while mutations in pstpip2 cause a murine form of the disorder. The roles played by LPIN2 and the human homolog of pstpip2, PSTPIP2, in the cause of chronic recurrent multifocal osteomyelitis are uncertain. The professional theories seem to be moving in the direction of an inherited gene.
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 (CRMO) was first described in 1972. Subsequently, in 1978, several cases of CRMO 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 (synovitis, acne, pustulosis, hyperostosis, osteitis) was coined in 1987 to represent this spectrum of inflammatory bone disorders that may or may not be associated with dermatologic pathology.
The definition is Synovitis Acne (commonly involving the face and upper back) Pustulosis Hyperostosis Osteitis
CRMO/CNO is a diagnosis of exclusion. This means that other diseases must be ruled out before the diagnosis can be made. Generally, many tests are required, such as blood tests, x-rays, bone scans, MRI and often a bone biopsy.
Peripheral arthritis has been reported in 92% of cases of SAPHO as well.
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.
Garre's sclerosing osteomyelitis is a type of chronic osteomyelitis also called proliferative periostitis, periostitis ossificans and Garré's sclerosing osteomyelitis.
It is a rare disease. It mainly affects children and young adults. It is associated with a low grade infection, which may be due to dental caries (cavities in the teeth).
The body of the mandible may show irregular lucent/opaque changes with subperiosteal opaque layering along inferior border. It is a chronic osteomyelitis with subperiosteal bone and collagen deposition.
There is no suppuration and sinus formation.
It was first described by the Swiss surgeon Carl Garré.
Symptom may include pain in a specific bone with overlying redness, fever, and weakness. Onset may be sudden or gradual.
LCH provokes a non-specific inflammatory response, which includes fever, lethargy, and weight loss. Organ involvement can also cause more specific symptoms.
- Bone: The most-frequently seen symptom in both unifocal and multifocal disease is painful bone swelling. The skull is most frequently affected, followed by the long bones of the upper extremities and flat bones. Infiltration in hands and feet is unusual. Osteolytic lesions can lead to pathological fractures.
- Skin: Commonly seen are a rash which varies from scaly erythematous lesions to red papules pronounced in intertriginous areas. Up to 80% of LCH patients have extensive eruptions on the scalp.
- Bone marrow: Pancytopenia with superadded infection usually implies a poor prognosis. Anemia can be due to a number of factors and does not necessarily imply bone marrow infiltration.
- Lymph node: Enlargement of the liver in 20%, spleen in 30% and lymph nodes in 50% of Histiocytosis cases.
- Endocrine glands: Hypothalamic pituitary axis commonly involved. Diabetes insipidus is most common. Anterior pituitary hormone deficiency is usually permanent.
- Lungs: some patients are asymptomatic, diagnosed incidentally because of lung nodules on radiographs; others suffer from chronic cough and shortness of breath.
- Less frequently gastrointestinal tract, central nervous system, and oral cavity.
An infectious bone disease is a bone disease primarily associated with an infection.
An example is osteomyelitis.
The signs and symptoms depend upon the type of OM, and may include:
- Pain, which is severe, throbbing and deep seated.
- Initially fistula are not present.
- No dental pain, but headache or other facial pain, as in the descriptive former term "neuralgia-inducing" (cavitational osteonecrosis).
- Fibromyalgia.
- Chronic fatigue syndrome.
- Swelling. External swelling is initially due to inflammatory edema with accompanying erythema (redness), heat and tenderness, and then later may be due to sub-periosteal pus accumulation. Eventually, subperiosteal bone formation may give a firm swelling.
- Trismus (difficulty opening the mouth), which may be present in some cases and is caused by edema in the muscles.
- Dysphagia (difficulty swallowing), which may be present in some cases and is caused by edema in the muscles.
- Cervical lymphadenitis (swelling of the lymph nodes in the neck).
- Aesthesia or paresthesia (altered sensation such as numbness or pins and needles) in the distribution of the mental nerve.
- Fever which may be present in the acute phase and is high and intermittent
- Malaise (general feeling of being unwell) which may be present in the acute phase
- Anorexia (loss of appetite).
- Leukocytosis (elevated numbers of white blood cells) which may be present in the acute phase
- Elevated erythrocyte sedimentation rate and C reactive protein are sometimes present.
- An obvious cause in the mouth (usually) such as a decayed tooth.
- Teeth that are tender to percussion, which may develop as the condition progresses
- Loosening of teeth, which may develop as the condition progresses.
- Pus may later be visible, which exudes from around the necks of teeth, from an open socket, or from other sites within the mouth or on the skin over the involved bone.
- Fetid odor.
Unlike acute OM in the long bones, acute OM in the jaws gives only a moderate systemic reaction and the person remains surprisingly well. Acute OM of the jaws may give a similar appearance to a typical odontogenic infection, but cellulitis does not tend to spread from the periosteal envelope of the involved bone. If the infection is not controlled, the process becomes chronic and systemic symptoms are usually present, including draining fistulas, loosening of teeth and sequestra formation. Untreated chronic osteomyelitis tends to feature occasional acute exacerbations.
Osteomyelitis (OM) is an infection of bone. Symptoms may include pain in a specific bone with overlying redness, fever, and weakness. The long bones of the arms and legs are most commonly involved in children while the feet, spine, and hips are most commonly involved in adults.
The cause is usually a bacterial infection and rarely a fungal infection. It may occur via spread from the blood or from surrounding tissue. Risks for developing osteomyelitis include diabetes, intravenous drug use, prior removal of the spleen, and trauma to the area. Diagnosis is typically suspected based on symptoms. This is then supported by blood tests, medical imaging, or bone biopsy.
Treatment often involves both antimicrobials and surgery. In those with poor blood flow, amputation may be required. With treatment outcomes are often generally good when the condition has only been present a short time. About 2.4 per 100,000 people are affected a year. The young and old are more commonly affected. Males are more commonly affected than females. The condition was described at least as early as the 300s BC by Hippocrates. Before the availability of antibiotics the risk of death was significant.
Tuberculous dactylitis is a skeletal manifestation of tuberculosis, one of the commonest bacterial osteitis. It affects children more often than adults. The first radiological description of the condition is credited to Feilchenfeld in 1896; however, the first histological description was given by Rankin in 1886. Multiple bones are involved in children and usually only a single bone is involved in adults suffering from tuberculous dactylitis. Tuberculous dactylitis affects the short tubular bones of the hands and feet in children. It often follows a mild course without fever and acute inflammatory signs as opposed to acute osteomyelitis. There may be a gap of a few months to 2 to 3 years from the time of initial infection to the point of diagnosis.
Spina ventosa is the term given for tuberculous dactylitis. Nearly 85% of the patients of spina ventosa are below 6 years of age.The bones of hands are more commonly involved than those of the feet. Proximal phalanx of the index and middle fingers are the commonest sites of involvement.Up to nearly 7% of children with pulmonary tuberculosis may develop this condition. Spread to the skeletal system is believed to occur via blood and lymphatics.
Seen mostly in children, multifocal unisystem LCH is characterized by fever, bone lesions and diffuse eruptions, usually on the scalp and in the ear canals. 50% of cases involve the pituitary stalk, leading to diabetes insipidus. The triad of diabetes insipidus, exopthalmos, and lytic bone lesions is known as the "Hand-Schüller-Christian triad". Peak onset is 2–10 years of age.
Localized pain, often nocturnal, alleviated by aspirin. Often mimics the symptoms of Osteoid osteoma, which is typically less than 1 cm in diameter.
Osteomyelitis of the jaws is osteomyelitis (which is infection and inflammation of the bone marrow, sometimes abbreviated to OM) which occurs in the bones of the jaws (i.e. maxilla or the mandible). Historically, osteomyelitis of the jaws was a common complication of odontogenic infection (infections of the teeth). Before the antibiotic era, it was frequently a fatal condition.
Former and colloquial names include Osteonecrosis of the jaws (ONJ), cavitations, dry or wet socket, and NICO (neuralgia-inducing Cavitational osteonecrosis). The current, more correct, term, osteomyelitis of the jaws, differentiates the condition from the relatively recent and better known iatrogenic phenomenon of bisphosphonate-caused Osteonecrosis of the jaws. The latter is found primarily in post-menopausal women given bisphosphonate drugs, usually against osteoporosis.
The diagnosis of the condition is made on the basis of histological and bacteriological studies. Tuberculosis dactylitis may be confused with conditions like osteomyelitis, gout, sarcoidosis and tumors.
Majeed syndrome is an inherited skin disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and a neutrophilic dermatosis.
It is classified as an autoinflammatory bone disorder.
The condition is found in people with two defective copies (autosomal recessive inheritance) of the LPIN2 gene. LPIN2 encodes lipin-2 which is involved in lipid metabolism.
The pathogenesis of this mutation with the clinical manifestations has not been elucidated.
Usually occurs at the metaphysis of long bones.
Distal tibia,
proximal tibia,
distal femur,
proximal or distal fibula, and
distal radius.
Hand–Schüller–Christian disease is associated with multifocal Langerhans cell histiocytosis.
It is associated with a triad of exophthalmos, lytic bone lesions (often in the skull), and diabetes insipidus (from pituitary stalk infiltration).
It is named for the US-American pediatrician Alfred Hand Jr, the Austrian neurologist and radiologist Arthur Schüller, and the US-American internist Henry Asbury Christian, who described it in 1893, 1915/16 and 1919
Focal radiodensity of the jaw which is NOT inflammatory, dysplastic, neoplastic or a manifestation of a systemic disease.
This is common and affects 5% of the population, usually seen in teens and those in their 20's. Typically asymptomatic and is an incidental finding on a radiograph. found anywhere in the jaw, most commonly in the mandibular premolar-molar region. The shape ranges from round to linear streaks to occasional angular forms.
Periodic fever syndromes (also known as autoinflammatory diseases or autoinflammatory syndromes) are a set of disorders characterized by recurrent episodes of systemic and organ-specific inflammation. Unlike autoimmune disorders such as systemic lupus erythematosus, in which the disease is caused by abnormalities of the adaptive immune system, patients with autoinflammatory diseases do not produce autoantibodies or antigen-specific T or B cells. Instead, the autoinflammatory diseases are characterized by errors in the innate immune system.
The syndromes are diverse, but tend to cause episodes of fever, joint pains, skin rashes, abdominal pains and may lead to chronic complications such as amyloidosis.
Most autoinflammatory diseases are genetic and present during childhood. The most common genetic autoinflammatory syndrome is familial Mediterranean fever, which causes short episodes of fever, abdominal pain, serositis, lasting less than 72 hours. It is caused by mutations in the MEFV gene, which codes for the protein pyrin.
Pyrin is a protein normally present in the inflammasome. The mutated pyrin protein is thought to cause inappropriate activation of the inflammasome, leading to release of the pro-inflammatory cytokine IL-1β. Most other autoinflammatory diseases also cause disease by inappropriate release of IL-1β. Thus, IL-1β has become a common therapeutic target, and medications such as anakinra, rilonacept, and canakinumab have revolutionized the treatment of autoinflammatory diseases.
However, there are some autoinflammatory diseases that are not known to have a clear genetic cause. This includes PFAPA, which is the most common autoinflammatory disease seen in children, characterized by episodes of fever, aphthous stomatitis, pharyngitis, and cervical adenitis. Other autoinflammatory diseases that do not have clear genetic causes include adult-onset Still's disease, systemic-onset juvenile idiopathic arthritis, Schnitzler syndrome, and chronic recurrent multifocal osteomyelitis. It is likely that these diseases are multifactorial, with genes that make people susceptible to these diseases, but they require an additional environmental factor to trigger the disease.
Another example that shows that autoinflamatory conditions may not be genetic in origin is found in a report published in "Nature" which shows that diet is very important in the development of such diseases. The ingestion levels of highly saturated fats and cholesterol, (high fat diet, HFD) affects the microbiota composition of the gut. Changes in the microbiota induced by a HFD are protective against the susceptibility to develop osteomyelitis (autoimmune disease) as compared with the changes induced by a low-fat diet. The changes in the microbiome of individuals under HFD showed a reduction in "Prevotella" abundance and were accompanied by significantly reduced expression levels of pro-Interleukin-1β in distant neutrophils.
DIRA displays a constellation of serious symptoms which include respiratory distress, as well as the following:
Idiopathic osteosclerosis is a condition which may be found around the roots of a tooth. It is usually painless and found during routine radiographs. It appears as a radiopaque (light area) around a tooth, usually a premolar or molar. There is no sign of inflammation of the tooth.
A periosteal reaction can result from a large number of causes, including injury and chronic irritation due to a medical condition such as hypertrophic osteopathy, bone healing in response to fracture, chronic stress injuries, subperiosteal hematomas, osteomyelitis, and cancer of the bone. It may also occur as part of thyroid acropachy, a severe sign of the autoimmune thyroid disorder Grave's disease.
Other causes include Menkes kinky hair syndrome and hypervitaminosis A.
It can take about three weeks to appear.
Osteitis is inflammation of bone. More specifically, it can refer to one of the following conditions:
- Osteomyelitis, or "infectious osteitis", mainly "bacterial osteitis")
- Alveolar osteitis or "dry socket"
- Condensing osteitis (or Osteitis condensans)
- Osteitis deformans (or Paget's disease of bone)
- Osteitis fibrosa cystica (or Osteitis fibrosa, or Von Recklinghausen's disease of bone)
- Osteitis pubis
- Radiation osteitis
- Osteitis condensans ilii
- Panosteitis, a long bone condition in large breed dogs
- In horses, pedal osteitis is frequently confused with laminitis.
The morphological appearance can be helpful in determining the cause of a periosteal reaction (for example, if other features of periostitis are present), but is usually not enough to be definitive. Diagnosis can be helped by establishing if bone formation is localized to a specific point or generalized to a broad area. The appearance of the adjacent bone will give clues as to which of these is the most likely cause.
Appearances include solid, laminated, spiculated, and Codman's triangle.