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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).
Types of myositis include:
- myositis ossificans
- (idiopathic) inflammatory myopathies
- dermatomyositis
- juvenile dermatomyositis
- polymyositis
- inclusion body myositis
- pyomyositis
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.
Myositis is inflammation or swelling of the muscles. Injury, medicines, infection, or an immune disorder can lead to myositis. It is a documented side effect of the lipid-lowering drugs statins and fibrates.
The signs and symptoms of Kikuchi disease are fever, enlargement of the lymph nodes (lymphadenopathy), skin rashes, and headache. Rarely, enlargement of the liver and spleen and nervous system involvement resembling meningitis are seen. Often a bout of extreme fatigue can occur - often taking hold during latter parts of the day and the affected person can be more prone to fatigue from exercise.
The speed of the progression of JDMS is highly variable. Nearly all JDM patients have some skin involvement. The JDMS rash usually occurs as the initial symptom. Sometimes it is so slight as not to be recognized for what it is until muscle symptoms appear. Sometimes muscle symptoms never appear at all or occur very gradually over the course of months, and sometimes going from normal strength to being unable to walk within days. Usually, muscle symptoms appear weeks to months after the onset of the rash.
The vasculitis caused by JDMS manifests itself predominantly in two ways:
One is a distinctive rash. The rash often affects the face, eyelids, and hands, and sometimes the skin above joints, including the knuckles, knees, elbows, etc. The color of the rash is a pinkish purple, and is called heliotrope (after a flower of the same name with approximately this color). On the hands and face, the rash very closely resembles allergies, eczema, fifth disease, or other more common skin condition, but the heliotrope color is unique to the inflammatory process of JDMS. Some children develop calcinosis, which are calcium deposits under the skin. The rash is the source of the "dermato-" part of the name of the disease.
The second symptom caused by vasculitis is muscle inflammation. This symptom is the source of the "-myositis" part of the name of the disease ("myo" = muscle, "-itis" = inflammation of). Muscle Inflammation causes muscle weakness, which can cause fatigue, clumsiness, not keeping up physically with peers, and eventually inability to perform tasks like climbing stairs, lifting objects, and performing other manual tasks. Other signs may include falling, dysphonia, or dysphagia. The muscle weakness often causes a medical misdiagnosis of muscular dystrophy or other muscle disease. Some patients develop contractures, when the muscle shortens and causes joints to stay bent; exercise, occupational therapy, and physical therapy can prevent this. The muscles first affected tend to be proximal (i.e., neck, shoulders, back, and abdominal). About half of children with JDMS also have pain in their muscles.
Other symptoms may include irritability, weight loss, and mouth ulcers. When a child becomes irritable, fatigued, reluctant to socialize, and the face becomes flushed easily, physicians refer to this constellation of symptoms as "misery."
Around 30% of people have swollen, painful joints, but this is generally mild.
In some people the condition affects the lungs, and they may have a cough or difficulty breathing. If the condition affects the heart, there may be arrhythmias. If it affects the blood vessels in the stomach or intestines, which is more common in juvenile DM, the person might vomit blood, have black, tarry bowel movements, or may develop a hole somewhere in their GI tract.
The main symptoms include several kinds of skin rash along with muscle weakness in both upper arms or thighs.
Kikuchi disease or Kikuchi-Fujimoto disease was described in 1972 in Japan. It is also known as histiocytic necrotizing lymphadenitis, Kikuchi necrotizing lymphadenitis, phagocytic necrotizing lymphadenitis, subacute necrotizing lymphadenitis, and necrotizing lymphadenitis.
It was first described by Dr Masahiro Kikuchi (1935–2012) in 1972 and independently by Y. Fujimoto.
MCTD combines features of scleroderma, myositis, systemic lupus erythematosus, and rheumatoid arthritis (with some sources adding polymyositis, dermatomyositis, and inclusion body myositis) and is thus considered an overlap syndrome.
MCTD commonly causes:
- joint pain/swelling,
- malaise,
- Raynaud phenomenon,
- muscle inflammation, and
- sclerodactyly (thickening of the skin of the pads of the fingers)
Necrotizing granulomas can develop in patients with rheumatoid arthritis, typically manifesting as bumps in the soft tissues around the joints (so-called rheumatoid nodules) or in the lungs.
The abscesses within the muscle must be drained surgically (not all patient require surgery if there is no abscess). Antibiotics are given for a minimum of three weeks to clear the infection.
A foreign-body granuloma occurs when a foreign body (such as a wood splinter, piece of metal, glass etc.) penetrates the body's soft tissue followed by acute inflammation and formation of a granuloma. In some cases the foreign body can be found and removed even years after the precipitating event.
Pyomyositis, also known as tropical pyomyositis or myositis tropicans, is a bacterial infection of the skeletal muscles which results in a pus-filled abscess. Pyomyositis is most common in tropical areas but can also occur in temperate zones.
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.
The most common manifestation of infectious tenosynovitis is in the flexor tendons of the fingers, though infections of other tendon sheaths have been reported as well. The four cardinal signs of infectious flexor tenosynovitis are tenderness to touch along the flexor aspect of the finger, symmetric enlargement of the affected finger, the finger being held in slight flexion at rest, and severe pain with passive extension. Fever may also be present but is uncommon.
Mixed connective tissue disease (also known as Sharp's syndrome), commonly abbreviated as MCTD, is an autoimmune disease characterized by the presence of high blood levels of a specific autoantibody, now called anti-U1 ribonucleoprotein (RNP). The idea behind the "mixed" disease is that this specific autoantibody is also present in other autoimmune diseases such as systemic lupus erythematosus, polymyositis, scleroderma, etc. It was characterized in 1972, and the term was introduced by Leroy in 1980.
It is sometimes said to be the same as undifferentiated connective tissue disease, but other experts specifically reject this idea because undifferentiated connective tissue disease is not necessarily associated with serum antibodies directed against the U1-RNP, and MCTD is associated with a more clearly defined set of signs/symptoms.
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.
How sIBM affects individuals is quite variable as is the age of onset (which generally varies from the forties upwards). Because sIBM affects different people in different ways and at different rates, there is no "textbook case."
Eventually, sIBM results in general, progressive muscle weakness. The muscles in the thighs called the quadriceps and the muscles in the arms that control finger flexion—making a fist—are usually affected early on. Common early symptoms include frequent tripping and falling, weakness going up stairs and trouble manipulating the fingers (including difficulty with tasks such as turning doorknobs or gripping keys). Foot drop in one or both feet has been a symptom of IBM and advanced stages of polymyositis (PM).
During the course of the illness, the patient's mobility is progressively restricted as it becomes hard for him or her to bend down, reach for things, walk quickly and so on. Many patients say they have balance problems and fall easily, as the muscles cannot compensate for an off-balanced posture. Because sIBM makes the leg muscles weak and unstable, patients are very vulnerable to serious injury from tripping or falling down. Although pain has not been traditionally part of the "textbook" description, many patients report severe muscle pain, especially in the thighs.
When present, difficulty swallowing (dysphagia) is a progressive condition in those with inclusion body myositis and often leads to death from aspiration pneumonia. Dysphagia is present in 40 to 85% of IBM cases.
IBM can also result in diminished capacity for aerobic exercise. This decline is most likely a consequence of the sedentary lifestyle that is often associated with the symptoms of IBM (i.e. progressive muscle weakness, decreased mobility, and increased level of fatigue). Therefore, one focus of treatment should be the improvement of aerobic capacity.
Patients with sIBM usually eventually need to resort to a cane or a walker and in most cases, a wheelchair eventually becomes a necessity.
"The progressive course of s-IBM leads slowly to severe disability. Finger functions can become very impaired, such as for manipulating pens, keys, buttons, and zippers, pulling handles, and firmly grasping handshakes. Arising from a chair becomes difficult. Walking becomes more precarious. Sudden falls, sometimes resulting in major injury to the skull or other bones, can occur, even from walking on minimally-irregular ground or from other minor imbalances outside or in the home, due to weakness of quadriceps and gluteus muscles depriving the patient of automatic posture maintenance. A foot-drop can increase the likelihood of tripping. Dysphagia can occur, usually caused by upper esophageal constriction that often can be symptomatically improved, for several months to years, by bougie dilation per a GI or ENT physician. Respiratory muscle weakness can sometimes eventuate."
Lymphadenopathy of the axillary lymph nodes can be defined as solid nodes measuring more than 15 mm without fatty hilum. Axillary lymph nodes may be normal up to 30 mm if consisting largely of fat.
Tenosynovitis is the inflammation of the fluid-filled sheath (called the synovium) that surrounds a tendon, typically leading to joint pain, swelling, and stiffness. Tenosynovitis can be either infectious or noninfectious. Common clinical manifestations of noninfectious tenosynovitis include de Quervain tendinopathy and stenosing tenosynovitis (more commonly known as trigger finger)
Symptoms vary but they mostly involve skin disorders. The signs to look for include Raynaud's phenomenon, arthritis, myositis and scleroderma.
Visual symptoms include discoloring of the skin and painful swelling.
Scleromyositis or the PM/Scl overlap syndrome is a complex autoimmune disease (a disease in which the immune system attacks the body). Patients with scleromyositis have symptoms of both systemic scleroderma and either polymyositis or dermatomyositis, and is therefore considered an overlap syndrome. Although it is a rare disease, it is one of the more common overlap syndromes seen in scleroderma patients, together with MCTD and Antisynthetase syndrome. Autoantibodies often found in these patients are the anti-PM/Scl (anti-exosome) antibodies.
The symptoms that are seen most often are typical symptoms of the individual autoimmune diseases and include Raynaud's phenomenon, arthritis, myositis and scleroderma. Treatment of these patients is therefore strongly dependent on the exact symptoms with which a patient reports to a physician and is similar to treatment for the individual autoimmune disease, often involving either immunosuppressive or immunomodulating drugs.
- Clinical characteristics:
- Overlap Syndrome: scleroderma overlap syndrome
- Autoimmune disease
- Scleroderma myositis overlap syndrome
Dermatopolymyositis (also called PM/DM) is a family of myositis disorders that includes polymyositis and dermatomyositis.