Today we're going to talk about rheumatic diseases of childhood. I have no relevant disclosures. The learning objectives today are to discuss the epidemiology, diagnosis, treatment, and prognosis of the following juvenile idiopathic arthritis, ankylosing spondylitis, systemic lupus erythematous scleroderma, and dermatomyositis. First we're going to discuss juvenile idiopathic arthritis. It is formally known as juvenile rheumatoid arthritis. It is the most common rheumatic disease of childhood. The prevalence of JAI is approximately 100 per 100,000 population. In the U.S. it's estimated to affect more than 300,000 children. Juvenile idiopathic arthritis is divided into seven subtypes systemic arthritis, oligoarthritic, rheumatoid factor negative polyarthritis, rheumatoid factor positive polyarthritis, psoriatic arthritis, enthesis related arthritis, and undifferentiated arthritis. JIA occurs in children before the age of 16 years. It persists at least six weeks and has had other known conditions excluded. The etiology is unknown but it seems to include both genetic and environmental components. Early arthritis may manifest as swelling, warmth, and joint stiffness. Typically worse in the morning and improves with activity. Symptoms usually fluctuate. Uncontrolled inflammation leads to joint damage. Younger children rarely complain of joint pain but may instead become irritable, stop walking, or using an extremity, or regress in their overall behavior. Other symptoms you may see include decreased appetite, malaise, inactivity, morning stiffness, nighttime, joint pains, and failure to thrive. Later in the disease may present as reduced range of motion, contractures, overgrowth, or undergrowth of the affected limbs, and result in disability. A characteristic feature of chronic arthritis in children is the effect the disease has on bone and joint development. Local growth disturbances at inflammation sites can lead to overgrowth, secondary to possible inflammatory-mediated increased vascularization and growth factor release, or undergrowth, secondary to growth center damage or premature fusion of epithelial plates. Irregular traction on growing structures secondary to muscle spasms and periarticular fibrosis can cause aberrant growth. Micronathia, leg link discrepancies, and developmental hip anomalies are all possible results from these processes. Indicators of poor outcome include greater severity or extension of arthritis at the onset, symmetrical disease, early wrist or hip involvement, presence of rheumatoid factor, persistent active disease, and early radiographic changes. Systemic JIA accounts for 10 to 20 percent of all patients with JIA. It presents with many extra articular features. Diagnosis requires arthritis accompanied by daily fever of at least two-week duration plus one or more of the following. Salmon-covered rash, generalized lymphadenopathy, hepatomegaly, splenomegaly, or serocitis. About five to eight percent of children with systemic JIA will develop a life-threatening complication known as macrophage activation syndrome with persistent fever, lymphadenopathy, and splenomegaly, and there is profound depression in one or more of the blood cell lines with raised liver function enzymes and clotting abnormalities. In half the children with systemic JIA, the course follows a relapsing remitting course with arthritis accompanying febrile episodes, then remission once systemic features are controlled. Long-term outlook is usually good. In the other half, the disease is unremitting with resultant severe joint destruction and probably the most severe JIA subtype. At least one-third of the children will develop severe arthritis. The next subtype is oligoarthritis. This accounts for 40 to 50 percent of all cases of JIA. Oligoarthritis is classified into two subtypes, persistent, affecting not more than four joints throughout the disease course, and extended, affecting more than four joints after the first six months of disease. Characteristically, early onset before six years of age of an asymmetric arthritis, it usually occurs in the lower limbs and predominantly affects females. ANA detected in about 70 to 80 percent will have risk factor of iridocyclitis. Regular ophthalmology follow-up is essential as silent uveitis develops in the first four years from diagnosis. These generally have the best outcome. The next subtype is rheumatoid factor positive polyarthritis. Must affect five or more joints in the first six months of the disease. It mainly affects adolescent girls, though can occur as young as in eight years of age. They'll have a symmetrical pattern. It appears similarly to adult rheumatoid factor positive disease. By five years from onset, severe deformity arthritis is generally present. Whereas 80% of all adult patients are seropositive, only 5% of children with JIA are positive for rheumatoid factor. Next is the rheumatoid factor negative polyarthritis. It accounts for 20 to 25 percent of all children with JIA. To make the diagnosis, five or more joints must be involved in the absence of prominent systemic signs and symptoms. Rheumatoid factor negative polyarthritis can occur at one year old with the peak incidence at two years of age. It may be insidious or discreet. It has more bearable outcomes, though seronegative disease tends to have a better prognosis. 20 to 40 percent affected are ANA positive and chronic uveitis is found in 5 to 20 percent. So again, regular ophthalmology appointments are important. Psoriatic subtype of JIA accounts for 5% of all cases of JIA. Psoriatic disease in children before the age of five years appears to be more difficult to control than in older children. For diagnosis, it requires the presence of arthritis and the typical psoriatic rash. If the rash is absent, they require arthritis plus two of the following, a positive family history of psoriasis, dactylitis, or nail pitting. The next subtype is emphysitis related JIA. It affects males after the age of six. Most children are HLA B27 positive. The arthritis commonly affects the joints of the lower extremities. Unlike the other JIA subsets, hip involvement is common at disease presentation. Most common sites of the emphysitis are the calcaneal insertion of the Achilles tendon, plantar fascia, and tarsal area. These children may progress to fulfill criteria for ankylosing spondylitis, reactive arthritis, or arthritis associated with inflammatory bowel disease. Uveitis is also a clinical problem in this subset, but it is usually sudden in onset, symptomatic, and more unilateral than children with other JIA subsets. The final subtype of JIA is undifferentiated arthritis. It is more of a catch-all category for those children who do not satisfy inclusion criteria for any category or who meet criteria in more than one category. Some extra articular manifestations are going to be iridocyclitis or uveitis, linear growth retardation, cardiac involvement such as pericarditis, endocarditis, or myocarditis, hepato-spleenomegaly, and lymphadenopathy. Although photophobia, eye pain, and erythema can occur, uveitis is often asymptomatic. Children with JIA must receive slit lamp examinations frequently. Rehabilitation of the child with JIA. Goals of treatment include controlling symptoms, preventing joint damage, achieving normal growth and development, and maintaining function and normal activity levels. Treatment goals may vary during maintenance and acute flare-ups of disease. Resting a joint may be necessary during an acute flare-up to prevent aggravation of the disease process. Activities that affect or excessively stressed joints should be discouraged during an acute flare-up. Rest periods may be necessary to reduce fatigue. Splinting is commonly used to provide joint relief and allow functional activities without stressing the inflamed joints. To prevent flexion contractures, the upper extremities are splinted in a functional position. Dynamic splints or serial casting can be used to increase range of motion. Knee extension braces can be used at night to prevent knee flexion contractures. Foot orthosis can promote arch support and reduce pain and weight-bearing. Adaptive strengthening exercises can be incorporated into play and recreational activities, such as throwing a ball, riding a bike, and swimming. Adaptive equipment can be used for joint protection, rest, and to minimize further joint destruction, such as adaptive utensils, adaptive pens, table and desk modifications, Velcro closures, and zipper pulls. Cervical spine involvement occurs more often in children with JIA than in adults. Restriction of range of motion, pain, and muscle spasms, which may present as torticollis, may be seen. If the transverse ligament becomes weakened, a lantoaxial subluxation can occur. The T and J joint is affected in almost two thirds of children with JIA by causing pain with chewing and opening the mouth, stiffness, and micronathia. Children will tend to modify their diets in order to avoid pain. The shoulder is not commonly involved at the onset of disease. Approximately one-third of children with polyarticular or cirrhotic disease may eventually develop shoulder involvement and loss of adduction and internal rotation, affecting midline ADL, such as grooming and toileting. The elbow requires at least 90 degrees of flexion range to perform ADL, such as eating, grooming, and reaching. Wrist involvement is common in children with early loss of wrist extension with progressive flexion contractures. Functional grasp may become limited as fingers lose both flexion and extension range. In the lower extremities, flexion contractures can occur at the knee and the hip. Painful ambulation can lead to increased sitting, which in turn leads to increased flexion contracture, deconditioning, weakness, atrophy, and osteoporosis. The knee is the most commonly affected joint in JIA. Early involvement of the knee can cause quadricep weakness that may not resolve. Multiple foot deformities can occur in JIA, including claw toe, valgus or varus hind foot, and ankle plantar flexion contracture deformities. Children with JIA are treated with more of an induction and maintenance approach. First, NSAIDs are used briefly in the initial phase. Intraarticular steroid injections can be used into the affected joints. However, steroids are used sparingly as possible to control inflammation in order to avoid long-term side effects such as weight gain, poor growth, and risk of infection. Children with JIA are at high risk of developing osteopenia, secondary to the disease itself, to steroid treatment of primary disease, lack of physical activity and weight bearing, limited sunshine exposure, and inadequate vitamin D and calcium. So calcium and vitamin D supplementation, sunshine, and encouragement of physical activity should be incorporated into their treatment plan. Other medications include methotrexate, biologics, and anti-inflammatory drugs. Surgery is rarely used early on, but can be used later in the course to relieve pain, release joint contractures, and replace a damaged joint. Next, we'll be talking about ankylosing spondylitis. The incidence is two per 100,000 children in the United States. Mainly affects adolescent boys. It occurs in children older than eight years of age, and it's strongly associated with HLA-B27. Often episodic oligoarthritis in the lower limbs. Bilateral sacroiliitis joints become involved later on with loss of lumbar lordosis. Limited chest expansion occurs. Characteristic bamboo spine is seen on imaging due to the ankylosis of the spine joints, and up to 25% will have uveitis. Adults present with decreased spine mobility, back pain, and stiffness related to axial involvement, whereas only 15 to 25% of children have these findings at onset. Children are more likely to have peripheral joint involvement with lower extremity and hip joints most often involved, although shoulder, costoclavicular, and sternoclavicular joints can be affected as well. Emphysitis, or pain at the insertion of tendon to bone, occurs more commonly in children at the onset than it does in adults. On physical exam, local tenderness of the emphysis can be present at the patella, tibial tuberosity, and catchment of the Achilles tendon on the calcaneus. Here is just showing on the left the typical bamboo spine, and you're going to lose the loss of the normal curvature due to the inflammation. Treatment for ankylosing spondylitis is physical therapy goals are to maintain range of motion of the spine and peripheral joints in erect posture with proper alignment. You can do breathing exercises to help with chest expansion. Swimming is also a good activity to help with trunk extension. Shoe inserts can relieve weight bearing on the heel and metatarsophalangeal joints to reduce pain. Hip disease is an indicator for poor prognosis. Children tend to have more lasting peripheral joint involvement than adults. Surgical correction for foot deformity or hip flexion contractures may be warranted. Next, we'll discuss systemic lupus erythematous. So it is a multi-system autoimmune disease with widespread immune complex deposition that results in episodic inflammation, vasculitis, and serocitis. Children are more likely than adults to present with systemic disease. 20% of cases begin in childhood. Females are affected 4.5 to eight times more than males. However, before menarche, the ratio is equal. Incidence is 0.5 per 100,000 children a year, and it's rare to present in children under the age of five. One third of children have the erythematous butterfly rash over the bridge of the nose and cheeks that is characteristic of lupus. The rash may occur after exposure to sunlight. Most children will develop a transient migratory arthritis of the extremities. Radiographic evidence of joint deformity and erosion are not commonly seen in children. Proximal muscle weakness may be a result of acute illness, myositis, or the result of steroid-induced myopathy. Pain may be out of proportion to joint findings on examination. Here is just a picture of the butterfly rash that's commonly seen in lupus. There are many systemic features that can occur, pericarditis or endocarditis, proliferative glomerulonephritis, or other renal disease. Nephritis occurs in 75% of children with lupus and is a main factor determining outcome. Hematuria, proteinuria, persistent hypertension, chronic active disease, and biopsy-proven diffuse proliferative glomerulonephritis are associated with a poor outcome. 10-year survival is 80%, although this number is lower in lower socioeconomic populations. Other features are pulmonary hypertension and or hypertension, seizures, psychosis, memory deficits, headaches, behavioral changes, oral ulcerations, arthritis, and cirricitis. Often early symptoms are going to be nonspecific, such as fever, malaise, fatigue, anorexia, and weight loss, so can go unnoticed for a while. Common immune markers that are found in lupus are listed here, ANA, anti-SSA, anti-SSB, anti-SMITH, anti-DSDNA, and antihistone. Management is usually going to be symptomatic. NSAIDs for arthritis and musculoskeletal conditions. The fever, dermatitis, arthritis, and cirricitis usually resolve quickly with low-dose steroids. Serological findings may require weeks of steroid therapy. High-dose steroids, immunosuppressive agents, and biological agents may be necessary for more severe disease manifestations. Physical activity, avoiding excessive sunlight, optimizing nutrition, and providing adequate social support are key in the management of lupus. Next, we'll discuss scleroderma. Systemic sclerosis is uncommon in children. Linear and focal cutaneous involvement is most common in children. Girls between eight and 10 are most often affected. Duration can last seven to nine years. Linear scleroderma presents with atrophic, erythematous skin areas, which later become fibrotic. The skin then binds to underlying subcutaneous tissues and underlying muscle and bone also become involved. Soft tissues can atrophy, leaving areas of asymmetry. Children may have pain from these skin changes. Here's just some pictures showing the skin changes from scleroderma. Scleroderma in coup de sabre is a unilateral linear involvement of the face and scalp, often with loss of hair on the involved side with loss of facial asymmetry. Systemic disease in children is uncommon. Management of scleroderma consists of physical therapy in order to prevent loss of range of motion and contractures because of the cutaneous involvement. Soft tissue massage, moist heat, stretching, and range of motion exercises to help maximize joint mobility. Topical corticosteroids may be helpful in treating localized skin disease. Systemic steroids, methotrexate, and physical therapy may alter the course of progression. Next, we'll talk about juvenile dermatomyositis. It is a multisystemic inflammatory disease affecting mainly the muscle and skin. It is a rare but distinctive disease that accounts for approximately 5% of all rheumatic disease in childhood. The etiology is unknown, though evidence supports the involvement of both the innate and adaptive humeral and cell-mediated immune system contributing to a vasculopathy, primarily affecting the skeletal muscle and skin. The peak age is between four and 10 years of age. Girls predominate by a two to one ratio to boys. It presents as progressive weakness in the proximal muscles in the extremities and trunk as well as a skin rash. Weakness is more pronounced in the lower extremities. Arthralgias may be present. Children will have difficulties arising from the floor, running, and climbing stairs. Upper extremity involvement causes difficulty with activities of daily living, such as combing their hair. The skin findings consist of a rash over the upper eyelids, periorbital edema, or an erythematous rash in a butterfly distribution. There can be involvement of respiratory muscles, pharyngeal muscles, and palatine muscles causing dysphagia, putting the child at risk of aspiration. Vasculitis can involve the GI tract. Myocarditis is present in some cases. Calcium deposits occur in up to 70% of cases and can lead to further contracture, pain, and atrophy in skin ulcerations. Calcinosis is commonly found at the knees and elbows. Contrary to adult-onset dermatomyositis, there is no known malignancy-related or perineoplastic phenomenon in juvenile-onset dermatomyositis. This is just showing some pictures of the rash on the hands, the upper eyelids, as well as the butterfly rash. In juvenile dermatomyositis, diagnosis is made by clinical presentation and supporting laboratory data. The muscle enzymes, CPK, AST, ALT, are all elevated. ANA can be elevated, and the SED rate is normal usually. The EMG reveals low amplitude, short duration, polyphasic motor units with early recruitment. You can have positive sharp waves, fibrillations, and complex repetitive discharges. The nerve conduction studies are usually normal. Muscle biopsy is consistent with muscle myopathy, showing lymphocyte infiltration with mainly CD4 cells, primarily around the blood cells, whereas in adults, you're gonna see mainly cytotoxic T cells on muscle biopsy. Corticosteroids are the main drug therapy used in juvenile dermatomyositis. Physical therapy is initiated acutely to prevent contracture through passive range of motion and splinting. Once inflammation subsides, goals consist of strengthening and building endurance. Most children have a single episode with good functional outcome, whereas 20% will develop a more chronic course. The prognosis for juvenile dermatomyositis is related to the degree of vasculitis. Long-term disability is related to persistent contracture, calcinosis, and complications of prolonged steroid use. This is the conclusion of the presentation. Listed here are the resources used for the presentation. Thank you for your time.

rheumatic diseases

childhood

juvenile idiopathic arthritis

symptoms

treatment

prognosis