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Symptoms, if any, can be mild even in the presence of significant swelling or masses.
Lacrimal gland involvement may cause swelling of the upper eyelid, or proptosis if there is severe swelling. Other orbital masses or inflammation can result in visual disturbance (blurred vision, double vision, visual field impairment), restricted eye movements, pain or discomfort, numbness in the distribution of the supraorbital and/or infraorbital nerves, or proptosis.
IgG4-related ophthalmic disease has been estimated to account for approximately 25% of all cases of proptosis, eyelid swelling and other features of orbital swelling.
IgG4-related ophthalmic disease (IgG4-ROD) is the recommended term to describe orbital (eye socket) manifestations of the systemic condition IgG4-related disease, which is characterised by infiltration of lymphocytes and plasma cells and subsequent fibrosis in involved structures. It can involve one or more of the orbital structures.
Frequently involved structures include the lacrimal glands, extraocular muscles, infraorbital nerve, supraorbital nerve and eyelids. It has also been speculated that ligneous conjunctivitis may be a manifestation of IgG4-related disease (IgG4-RD).
As is the case with other manifestations of IgG4-related disease, a prompt response to steroid therapy is a characteristic feature of IgG4-ROD in most cases, unless significant fibrosis has already occurred.
Affected individuals typically present with sudden painful proptosis, redness, and edema. Proptosis will vary according to the degree of inflammation, fibrosis, and mass effect. Occasionally, ptosis, chemosis, motility dysfunction (ophthalmoplegia), and optic neuropathy are seen. In the setting of extensive sclerosis there may be restriction, compression, and destruction of orbital tissue. Symptoms usually develop acutely (hours to days), but have also been seen to develop over several weeks or even months.Malaise, headaches, and nausea may accompany these symptoms. Other unusual presentations described include cystoid macular edema, temporal arteritis, and cluster headaches.
Pediatric IOI accounts for about 17% of cases idiopathic orbital inflammation. The most common sign is proptosis, but redness and pain are also experienced. Presentation varies slightly compared to adults with bilateral involvement, uveitis, disc edema and tissue eosinophilia being more common in this population. The presence of uveitis generally implies a poor outcome for pediatric IOI. Bilateral presentation may have a higher incidence of systemic disease.
Idiopathic orbital inflammatory (IOI) disease, or orbital pseudotumor, refers to a marginated mass-like enhancing soft tissue involving any area of the orbit. It is the most common painful orbital mass in the adult population, and is associated with proptosis, cranial nerve (Tolosa–Hunt syndrome), uveitis, and retinal detachment. Idiopathic orbital inflammatory syndrome, also known as orbital pseudotumor, was first described by Gleason in 1903 and by Busse and Hochhmein. It was then characterized as a distinct entity in 1905 by Birch-Hirschfeld. It is a benign, nongranulomatous orbital inflammatory process characterized by extraocular orbital and adnexal inflammation with no known local or systemic cause. Its diagnosis is of exclusion once neoplasm, primary infection and systemic disorders have been ruled-out. Once diagnosed, it is characterized by its chronicity, anatomic location or histologic subtype.
Idiopathic orbital inflammation has a varied clinical presentation depending on the involved tissue. It can range from a diffuse inflammatory process to a more localized inflammation of muscle, lacrimal gland or orbital fat. Its former name, orbital pseudotumor, is derived due to resemblance to a neoplasm. However, histologically it is characterized by inflammation. Although a benign condition, it may present with an aggressive clinical course with severe vision loss and oculomotor dysfunction.
The age of onset is almost always before 3 months of age. Many infants are born preterm (1/3 cases) and dysmature. The babies are frequently small for dates. The placenta may be abnormal with non-specific inflammation on histology. Umbilical cord anomalies have occasionally been reported. In severe cases, signs in the brain may be detected on prenatal ultrasound.
The presentation is pleiomorphic, making the diagnosis difficult, but the most common features of this disease involve the skin, joints, and central nervous system.
All have a maculopapular urticarial skin rash that is often present at birth (75% cases). It is probably more correctly described as an urticarial-like rash. The presence of the rash varies with time, and biopsy of these skin lesions shows a perivascular inflammatory infiltrate including granulocytes.
In about 35-65% of cases, arthritis occurs. Joint signs are variably expressed and can lead to transient swelling without sequelae between crises, or to unpredictable anomalies of growth cartilage and long bones epiphyses suggestive of a pseudo-tumour. Biopsies reveal hypertrophic cartilage without inflammatory cells. This most commonly affects the large joints (knees, ankles, elbows, and wrists) but may also involve the small joints of the hands and feet. It is usually bilateral and painful. A common and characteristic feature is giant kneecaps. Severe cases may result in contractures (joint deformities).
Most patients eventually have neurological problems. These manifest themselves in three principal ways: chronic meningitis, involvement of both the optic tract and eye, and sensorineural hearing loss. The chronic meningitis presents with the features of chronically raised intracranial pressure: headaches, vomiting, ventriculomegaly, hydrocephalus, macromegaly, cerebral atrophy, and optic atrophy. Some of these features may be evidenced on prenatal ultrasound. In 50% of cases, intellectual deficit occurs. Seizures occur in 25% of cases, but other manifestations are rare. Histological examination shows infiltration of the meninges with polymorphs.
Ocular manifestations occur in 80% of cases and include uveitis (70%), papillary involvement, conjunctivitis, and optical neuritis. If untreated, these may result in blindness (25%). The sensorineural hearing loss occurs in 75%, and tends to be progressive leading to deafness in 20% of cases.
Almost all children are remarkably short and have growth delay. Fever is extremely common but inconstant and is most often mild. Anemia is frequent. Other findings that have been reported include macrocephaly (95%), large fontanelle, prominent forehead, flattening of the nasal bridge (saddleback nose), short and thick extremities, and finger clubbing. The liver and/or spleen may be enlarged. Lymph node enlargement may also be present.
Later in life, secondary amyloidosis may occur. Delayed puberty and secondary amenorrhoea are not uncommon. Hoarseness due to inflammation of the laryngeal cartilage has also been reported.
Patients with trochleitis typically experience a dull fluctuating aching over the trochlear region developing over a few days. Some may also feel occasional sharp pains punctuating the ache. In patients with migraines, trochleitis may occur simultaneously with headache. Presentation is usually unilateral with palpable swelling over the affected area supranasal to the eye. The trochlear region is extremely tender to touch. Pain is exacerbated by eye movements looking down and inwards, and especially in supraduction (looking up) and looking outwards, which stretches the superior oblique muscle tendon. Notably, there is no restriction of extraocular movements, no diplopia, and often no apparent ocular signs such as proptosis. However, occasionally mild ptosis is found. The absence of generalized signs of orbital involvement is helpful in eliminating other more common causes of periorbital pain.
Grisel’s syndrome is a non-traumatic subluxation of the atlanto-axial joint caused by inflammation of the adjacent tissues. This is a rare disease that usually affects children. Progressive throat and neck pain and neck stiffness can be followed by neurologic symptoms such as pain or numbness radiating to arms (radiculopathies). In extreme cases, the condition can lead to quadriplegia and even death from acute respiratory failure. The condition often follows soft tissue inflammation in the neck such as in cases of upper respiratory tract infections, peritonsillar or retropharyngeal abscesses. Post-operative inflammation after certain procedures such as adenoidectomy can also lead to this condition in susceptible individuals such as those with Down's syndrome.
Pathophysiology of this disease consists of relaxation of the transverse ligament of the atlanto-axial joint.
The Geist classification divides the accessory navicular bones into three types.
- Type 1: An os tibiale externum is a 2–3 mm sesamoid bone in the distal posterior tibialis tendon. Usually asymptomatic.
- Type 2: Triangular or heart-shaped ossicle measuring up to 12 mm, which represents a secondary ossification center connected to the navicular tuberosity by a 1–2 mm layer of fibrocartilage or hyaline cartilage. Portions of the posterior tibialis tendon sometimes insert onto the accessory ossicle, which can cause dysfunction, and therefore, symptoms.
- Type 3: A cornuate navicular bone represents an enlarged navicular tuberosity, which may represent a fused Type 2 accessory bone. Occasionally symptomatic due to bunion formation.
Plantar calcaneal bursitis is a medical condition in which there is inflammation of the plantar calcaneal bursa, a spongy fluid filled sac that cushions the fascia of the heel and the calcaneus (heel bone). It is characterized by swelling and tenderness of the central plantar heel area. It is sometimes called 'Policeman's heel'. It sometimes was, and should not be, confused with plantar fasciitis, which is inflammation of the plantar fascia and can affect any part of the foot.
An accessory navicular bone is an accessory bone of the foot that occasionally develops abnormally in front of the ankle towards the inside of the foot. This bone may be present in approximately 2-21% of the general population and is usually asymptomatic. When it is symptomatic, surgery may be necessary.
Surgery can be performed at any age because it does not alter any other bones.
Symptoms of an accessory navicular bone may include plantar fasciitis, bunions and heel spurs.
Trochleitis is inflammation of the superior oblique tendon trochlea apparatus characterized by localized swelling, tenderness, and severe pain. This condition is an uncommon but treatable cause of periorbital pain. The trochlea is a ring-like apparatus of cartilage through which passes the tendon of the superior oblique muscle. It is located in the superior nasal orbit and functions as a pulley for the superior oblique muscle. Inflammation of the trochlear region leads to a painful syndrome with swelling and exquisite point tenderness in the upper medial rim of the orbit. A vicious cycle may ensue such that inflammation causes swelling and fraying of the tendon which then increases the friction of passing through the trochlea which in turn adds to the inflammation. Trochleitis has also been associated with triggering or worsening of migraine attacks in patients with pre-existing migraines (Yanguela, 2002).
Plica syndrome (also known as synovial plica syndrome) is a condition which occurs when a plica (an extension of the protective synovial capsule of the knee) becomes irritated, enlarged, or inflamed.
Inflammation occurs in the laryngeal, tracheal and bronchial cartilages. Both of these sites are involved in 10% of persons with RP at presentation and 50% over the course of this autoimmune disease, and is more common among females.
The involvement of the laryngotracheobronchial cartilages may be severe and life-threatening; it causes one-third of all deaths among persons with RP.
Laryngeal chondritis is manifested as pain above the thyroid gland and, more importantly, as dysphonia with a hoarse voice or transient aphonia. Because this disease is relapsing, recurrent laryngeal inflammation may result in laryngomalacia or permanent laryngeal stenosis with inspiratory dyspnea that may require emergency tracheotomy as a temporary or permanent measure.
Tracheobronchial involvement may or may not be accompanied with laryngeal chondritis and is potentially the most severe manifestation of RP.
The symptoms consist of dyspnea, wheezing, a nonproductive cough, and recurrent, sometimes severe, lower respiratory tract infections.
Obstructive respiratory failure may develop as the result of either permanent tracheal or bronchial narrowing or chondromalacia with expiratory collapse of the tracheobronchial tree. Endoscopy, intubation, or tracheotomy has been shown to hasten death.
The inflammation of the cartilage of the nose involves the bridge of the nose and is often less marked as the ears. Statistics show that this clinical manifestation is present in 15% of persons with RP and occurs at some point in 65% of persons with RP.
Nasal obstruction is not a common feature. Atrophy may eventually develop secondarily during the disease, this appears gradual and is not easily noticed. This can result in collapse of the nasal septum with saddle-nose deformity, which is painless but irreversible.
This inflammation is typically caused by the plica being caught on the femur, or pinched between the femur and the patella. The most common location of plica tissue is along the medial (inside) side of the knee. The plica can tether the patella to the femur, be located between the femur and patella, or be located along the femoral condyle. If the plica tethers the patella to the femoral condyle, the symptoms may cause it to be mistaken for chondromalacia patellae. Plica are sometimes visible on MRI.
The plica themselves are remnants of the fetal stage of development where the knee is divided into three compartments. The plica normally diminish in size during the second trimester of fetal development, as the three compartments develop into the synovial capsule. In adults, they normally exist as sleeves of tissue called synovial folds. The plica are usually harmless and unobtrusive; plica syndrome only occurs when the synovial capsule becomes irritated, which thickens the plica themselves (making them prone to irritation/inflammation, or being caught on the femur).
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 hallmark of polymyositis is weakness and/or loss of muscle mass in the proximal musculature, as well as flexion of the neck and torso. These symptoms can be associated with marked pain in these areas as well. The hip extensors are often severely affected, leading to particular difficulty in ascending stairs and rising from a seated position. The skin involvement of dermatomyositis is absent in polymyositis. Dysphagia (difficulty swallowing) or other problems with esophageal motility occur in as many as 1/3 of patients. Low grade fever and peripheral adenopathy may be present. Foot drop in one or both feet can be a symptom of advanced polymyositis and inclusion body myositis. The systemic involvement of polymyositis includes interstitial lung disease (ILD) and cardiac disease, such as heart failure and conduction abnormalities.
Polymyositis tends to become evident in adulthood, presenting with bilateral proximal muscle weakness often noted in the upper legs due to early fatigue while walking. Sometimes the weakness presents itself as an inability to rise from a seated position without help or an inability to raise one's arms above one's head. The weakness is generally progressive, accompanied by lymphocytic inflammation (mainly cytotoxic T cells).
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
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.
Polymyositis and the associated inflammatory myopathies have an associated increased risk of malignancy. The features they found associated with an increased risk of cancer was older age, age greater than 45, male sex, dysphagia, cutaneous necrosis, cutaneous vasculitis, rapid onset of myositis (<4 weeks), elevated creatine kinase, higher erythrocyte sedimentation rate and higher C-reactive protein levels. Several factors were associated with lower-than-average risk, including the presence of ILD, arthritis/arthralgia, Raynaud's syndrome, or anti-Jo-1 antibody. The malignancies that are associated are nasopharyngeal cancer, lung cancer, non-Hodgkin's lymphoma and bladder cancer, amongst others.
Cardiac involvement manifests itself typically as heart failure, and is present in up to 77% of patients.
Interstitial lung disease is found in up to 65% of patients with polymyositis, as defined by HRCT or restrictive ventilatory defects compatible with ILD.
Tailor's bunion, or bunionette, is a condition caused as a result of inflammation of the fifth metatarsal bone at the base of the little toe.
It is mostly similar to a bunion (the same type of ailment affecting the big toe). It is called Tailor's Bunion because in past centuries, tailors sat cross-legged, and this was thought to cause this protrusion on the outside aspect of the foot.
It is usually characterized by inflammation, pain and redness of the little toe.
Often a tailor's bunion is caused by a faulty mechanical structure of the foot. The fifth metatarsal bone starts to protrude outward, while the little toe moves inward. This change in alignment creates an enlargement on the outside of the foot.
Tailor's bunion is easily diagnosed because the protrusion is visually apparent. X-rays may be ordered to help the surgeon find out the severity of the deformity.
Neonatal-onset multisystem inflammatory disease (abbreviated NOMID, also known as chronic infantile neurologic cutaneous and articular syndrome, or CINCA) is a rare genetic periodic fever syndrome which causes uncontrolled inflammation in multiple parts of the body starting in the newborn period. Symptoms include skin rashes, severe arthritis, and chronic meningitis leading to neurologic damage. It is one of the cryopyrin-associated periodic syndromes.
NOMID can result from a mutation in the "CIAS1" gene (also known as "NLRP3" gene), which helps control inflammation. Mutations in this gene also cause familial cold urticaria and Muckle–Wells syndrome. NOMID has been successfully treated with the drug anakinra.
This syndrome is also known as the Prieur–Griscelli syndrome as it was first described by these authors in 1981.
Spondyloarthropathy or spondyloarthrosis refers to any joint disease of the vertebral column. As such, it is a class or category of diseases rather than a single, specific entity. It differs from spondylopathy, which is a disease of the vertebra itself. However, many conditions involve both spondylopathy and spondyloarthropathy.
Spondyloarthropathy with inflammation is called axial spondyloarthritis. In the broadest sense, the term spondyloarthropathy includes joint involvement of vertebral column from any type of joint disease, including rheumatoid arthritis and osteoarthritis, but the term is often used for a specific group of disorders with certain common features, the group often being termed specifically seronegative spondylarthropathies. They have an increased incidence of HLA-B27, as well as negative rheumatoid factor and ANA. Enthesopathy is also sometimes present in association with seronegative.
Non-vertebral signs and symptoms of degenerative or other not-directly-infected inflammation, in the manner of spondyloarthropathies, include asymmetric peripheral arthritis (which is distinct from rheumatoid arthritis), arthritis of the toe interphalangeal joints, sausage digits, Achilles tendinitis, plantar fasciitis, costochondritis, iritis, and mucocutaneous lesions. However, lower back pain is the most common clinical presentation of the causes of spondyloarthropoathies; this back pain is unique because it decreases with activity.
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.