salmon pink, macular/urticarial on chest, trunk, and intertrigones. \200 \200 \200 s to disease, steroids, or joint damage. Investigations \200 FBC (normocytic or hypochromic anemia; leucocytosis; thrombocytosis). ESR/CRP can be high: Hypoalbuminaemia: catabolism, possibly proteinuria secondary to renal amyloid. ANA and RF u sually \200\223ve. Viral titres and blood cultures. Malignancy screen: ECG and echocardiog ram. \200 use to monitor disease during treatment. multifactorial \200\224poor diet, general ill health with \200 \200 \200 CXR, US abdomen. Management \200 NSAIDs for initial management of pain, fever, and serositis. Indomethacin often used for pe ricarditis. Pulsed IV corticosteroids if no improvement after 1wk of NSAIDs. Oral steroids at 1mg/kg in divided doses until fever settled and in \202 ammatory markers normal. Taper dose to reduce side-effects. Use alternate day doses and add steroid-sparing agent. MTX is used, but is not as effective as in other JIA subsets. Intra-articular corticosteroid for \202 ares of single joints. Biological therapy: \200 \200 \200 anti-TNF and anti-IL6 in resistant cases. Prognosis Three groups \200\224monocyclic (11%); recurrent or polycyclic (34%); and per- si stent (55%). Monocyclic patients do well. More than 33% of the others will have permanent d isability with active disease in adult life. Death from infection, MAS, or amylodosis. 20_McClure_20.indd 772 11/14/2012 3:24:08 PM OLIGOARTICULAR JUVENILE IDIOPATHIC ARTHRITIS 773 Oligoarticular juvenile idiopathic arthritis \200 Commonest subtype (previously known as pauciarticular JCA/JRA). 40% of patients. Two subset s are recognized: joints increases to more than 4 within the \201 rst 6mths of illness, i t is termed extended oligoarticular JIA. Children may develop silent, blinding iritis (ante rior uvertis). It is usually ANA-positive patients (40 \200\22375% of this form of illness) who are at risk of developing iritis. persistent and extended. If the number of Clinical features \200 \200 \200 \200 Diagnosis of exclusion; rule out infection. Milder symptoms than reactive arthritis; no con stitutional symptoms. Often present with joint swelling or limping rather than pain. 2/3 si ngle joint; 1/3 only 2 joints; often asymmetrical; knees, ankles, elbows, wrists common, bu t any joint possible. Careful examination may reveal more extensive disease as the child ma y be too young to express pain. Elbows and knees may lack full extension, but not be painfu l. Affected leg may overgrow; measure leg lengths and check pelvis is level. Observe gait f or circumduction to compensate for limb overgrowth. \200 Investigations \200 \200 FBC; CRP (usually normal); ANA (prognostic value for uveitis). X-ray: exclude fracture, tumor; look for overgrowth and damage. Management \200 \200 Regular review to assess joints, eyes, and general growth. NSAIDs for pain and stiffness: n aproxen, or piroxicam). Intra-articular steroid injections: If not controlled with oral NSA IDs and intra-articular steroids, MTX oral or SC is used in resistant cases. Rarely etanerc ept (anti-TNF therapy) is needed. Screen for uveitis: full dose for 8wks (ibuprofen, diclofenac, \200 may settle in \202 ammation for years. \200 initially 3-monthly, by ophthalmologist. Disease course and prognosis \200 \200 80% normal at 15yrs. \200\230Extended \200\231 subset have worse prognosis Uveitis is m ost important extra-articular complication 20_McClure_20.indd 773 11/14/2012 3:24:08 PM CHAPTER 20 Bones and joints 774 Rheumatoid factor-positive polyarthritis A chronic symmetrical in \202 ammatory polyarthri tis (>5 joints) with positive RF on two occasions at least 3mths apart. Typically affects t eenage girls, though any age possible. Similar to adult rheumatoid arthritis, but gener- al ly a more aggressive disease. ARA criteria for diagnosis of rheumatoid arthritis1 \200 \200 \200 \200 \200 \200 \200 Morning stiffness: Arthritis in at least 3 joints: Hand arthritis: Symmetrical arthritis Rh eumatoid nodules Rheumatoid factor-positive Erosions on X-ray >1hr at peak illness witnessed by a physician wrists, MCPs, or PIPs All symptoms need to be present for at least 6wks. Four or more crite- ria need to be ful \201 lled for diagnosis of rheumatoid arthritis (RA). These are primarily classi \201 cati on criteria (90% sensitivity and speci \201 city). Clinical features \200 \200 History of early morning and immobility stiffness. Symmetrical arthritis affecting large an d small joints associated with rheumatoid nodules. Wrists and PIPs affected early. Hip invo lvement can be aggressive and lead to early hip replacement. Tenosynovitis common around \201 ngers and ankles. Systemic features: hepatosplenomegaly; lymphadenopathy; serositis (p ericarditis and pleurisy). Eyes: lead to a painful red eye. \200 low grade fever (differential diagnosis systemic JIA); uveitis rare; dry eyes relatively common (10 \200\22335%); episcleritis can Investigations \200 \200 \200 FBC; CRP; LFTs; RF; ANA. Renal function and urinalysis. X-rays of affected joints and CXR. Management \200 \200 Monitor disease activity and aim for good control of arthritis. Regular meticulous assessme nt for tender and swollen joints, muscle wasting, joint damage, and loss of joint function. Monitor growth development and nutritional status. Exercise: Psychosocial development can be severely affected and needs addressing. \200 \200 range of joint motion and aerobic activity. 20_McClure_20.indd 774 11/14/2012 3:24:08 PM RHEUMATOID FACTOR-POSITIVE POLYARTHRITIS 775 Treatment \200 \200 \200 Start treatment as soon as possible. NSAIDs provide relief from pain, stiffness, and swelli ng. All children will need disease-modifying antirheumatic drug (DMARDs): MTX is the least toxic and most well established \200\224orally or SC. Others include hydroxychloroquine, su lfasalazine, azathioprine, ciclosporin, and gold. These have been used in combination with MTX or alone. Steroids: intra-articular steroids to settle synovitis in individual joints; oral steroids as adjunct to DMARDs; pulsed IV steroids for \202 are of disease. Aim to mi nimize total steroid load. Biologic agents: have been shown to reduce joint erosions and ma y prevent progression to secondary arthritis Anti-TNF agents (etenercept, in \202 iximab, adalimimab) Prognosis Most children survive into adulthood though with poor func- tional outcome becaus e of aggressive, unremitting disease, early erosions, and high incidence of joint replaceme nt. The use of aggressive, early sys- temic MTX and biological therapies may have improved this outcome. Reference 1 Arnett FC, Edworthy SM, Bloch DA, et al. (1988). The American Rheumatism Associ ation 1987 revised criteria for the classi \201 cation of rheumatoid arthritis. Arthritis Rheum 31(3) : 315 \200\22324. 20_McClure_20.indd 775 11/14/2012 3:24:08 PM CHAPTER 20 Bones and joints 776 Rheumatoid factor-negative polyarthritis 30% of JIA cases. Previously known as polyarticula r onset JCA. Characterized by 5 or more affected joints within \201 rst 6mths. Clinical features \200 \200 Diagnosis of exclusion: Systemic features: mild. Asymmetrical joint involvement of any join t including jaw, cervical spine, wrists and \201 ngers, and subtalar joints. Joint swelli ng leads to limited mobility and muscle wasting. Chronic hyperaemia leads to accelerated bo ne growth and premature cartilage fusion. Common sites: carpus, subtalar, jaw (micrognathia , dental malocclusion); cervical spine (C3 \200\2235 apophyseal joint fusion with instabili ty above and below). Tenosynovitis and bursitis around \201 ngers and feet. Flexion contr actures at elbows, knees, and hips. IgM RF-negative 3mths apart. low grade fever and transient rashes possible, but \200 \200 Investigations \200 \200 Blood: X-ray: FBC, CRP, ANA. affected joints. Treatments Start treatment as soon as possible. \200 NSAIDs for 8wks in adequate dose, plus intra-articular steroids to target joints. Start DMA RDs early to try and induce remission with oral or SC MTX (use sulfasalazine or azathioprin e if intolerant to MTX; see b p.775). continue NSAID for 6mths and DMARD for 1yr. Remission : Persistent arthritis: combination DMARDs. Etanercept: \200 intra-articular steroids into target joints + anti-TNF therapy if intolerant or unresponsive to MTX. Prognosis Heterogeneous group of conditions with variable prognosis. Prognosis has dramatic ally improved in recent years with the aggressive use of MTX and anti-TNF therapy. However, up to a third will have persistent deformity, disability, and disease activity into adult life. 20_McClure_20.indd 776 11/14/2012 3:24:08 PM PSORIATIC ARTHRITIS 777 Psoriatic arthritis Recently recognized, underdiagnosed subset of JIA; 2 \200\22315% of chi ldren with JIA; unknown etiology on a background of strong genetic predisposition (up to 50 %). ILAR criteria for diagnosis of psoriatic arthritis1 \200 In \202 ammatory arthritis in presence of psoriasis, or in \202 ammatory arthritis with d actylitis or psoriatic nail changes plus a \201 rst-degree relative with psoriasis. Exclu sions: arthritis or uveitis in \201 rst-degree relative; systemic arthritis. RF +ve; HLA-B27 +ve in male >6yrs; any enthesitis-related Clinical features \200 Arthritis and rash rarely present simultaneously. Rash usually precedes arthritis. Arthriti s: joint polyarthritis of \201 ngers and toes (metacarpal phalangeal (MCP), proximal inte rphalangeal (PIP), and distal interphalangeal (DIP) joints) and dactylitis are also common. Some children have tendonitis or tenosynovitis, especially around the ankles. Skin: predom inantly plaque psoriasis (examine extensor surfaces of elbows and knees, hairline, behind t he ears, around the umbilicus, groin, and natal cleft; see b p.810). Nails: Uveitis: Psoria sis affects up to 3% of normal population; the association with in \202 ammatory arthritis may be coincidental. commonest is asymmetrical large joint (knees or ankles). Small \200 \200 pitting, ridging, onycholysis, subungual hyperkeratosis. needs regular screening as can potentially blind. Investigations \200 \200 need exclusion bloods (see b p.734). No speci \201 c tests: Often evidence of chronic in \202 ammation: low grade normocytic a nemia. raised CRP; thrombocytosis; and Radiographs \200 \200 Periarticular osteopenia and soft tissue swelling. Periosteal new bone formation, particula rly in dactylitis. Treatment Important to diagnosis dactylitis. NSAIDs are the mainstay of treat- ment. Intra- articular steroid injections often help settle in \202 ammation. Methotrexate and ant-TNF agents are effective for persistent disease. Prognosis Arthritis can be episodic and contin ue into adult life. A few patients have a very destructive course with arthritis mutilans. Reference 1 Petty RE, Southwood TR, Manners P, et al. (2004). International League of Assoc iations for Rheumatology classi \201 cation of juvenile idiopathic arthritis, 2nd revision , Edmonton 2001. J Rheumatol 31: 390 \200\2232. 20_McClure_20.indd 777 11/14/2012 3:24:09 PM CHAPTER 20 Bones and joints 778 Enthesitis-related arthritis Recently introduced ILAR terminology and category.1 Previously known as juvenile ankylosing spondylitis or seronegative spondyarthropathy. Characterized by arthritis with enthesitis (in \202 ammation in any tendinous, ligamentous, or muscular insertion on to bone) or arthritis alone or enthesitis alone with 2 of the following featur es: \200 \200 \200 \200 \200 sacroiliac joint tenderness; in \202 ammatory spinal pain; HLA B27 +ve; \201 rst degree relative family history of uveitis; age of onset 6 >yrs. Exclude RF +ve; systemic arthritis; psoriasis in patient or \201 rst degree relative. Clinical features \200 \200 \200 Commonly adolescent or pre-adolescent boys (M:F, 10:1). Oligo- or polyarthritis predominant ly in lower limbs. Enthesitis especially around the foot (heel pain). Children can present with isolated heel pain many years before spinal symptoms. Spinal pain may not be present a t onset. Progresses to sacroiliac joint tenderness, in \202 ammatory spinal pain, or butto ck pain (worse at night plus early morning stiffness). low grade fever, weight loss, and fa tigue. Systemic features: Acute anterior uveitis (10 \200\22315%): eye \200\224different fr om uveitis seen with other JIA. Associated IBD and reactive arthritis. \200 \200 acutely painful red, photophobic Examination \200 Examine wasting, and range of movement. Spine examination: is essential. Test for cervical rotation, thoracic rotation, lateral \202 exion, and document the Scho ber test (mark 10cm above and 5cm below the \200\230dimples of Venus \200\231 and note the increase gained by forward \202 exion). Normal is at least 21cm \200\224varies little wi th age and gender. Look for loss of normal lumbar lordosis. Chest expansion: Examine common ly affected enthesitis sites around the heel: insertion and calcaneum. affected joints: for synovitis, effusions, associated muscle \200 may be reduced in advanced disease. Achilles Investigations \200 \200 \200 \200 \200 FBC (normochromic anemia, mild leucocytosis, and thrombocytosis). If microcytic anemia thin k of occult IBD. CRP may be raised. RF and ANA negative. HLA B27 +ve 90%, but also +ve in 8 \200\22310% of normal population. 20_McClure_20.indd 778 11/14/2012 3:24:09 PM ENTHESITIS-RELATED ARTHRITIS 779 Radiology X-ray changes lag behind clinical symptoms by up to 10yrs. MRI is the gold standa rd in adults. Interpretation is dif \201 cult in children. Lateral views may show Romanus lesions (small erosions of the corners of the vertebral bodies). X-rays \200 Affected joints: joint space narrowing, bony ankylosis. Heel may show calcaneal spur or \202 uffy exostoses on Achilles. Sacroiliac joints may show erosions, sclerosis, and fusion . Thoracolumbar junction may show bony overgrowth syndesmophytes. soft tissue swelling, periarticular osteopenia, erosions, \200 \200 Reference 1 Petty RE, Southwood TR, Manners P, et al. (2004). International League of Assoc iations for Rheumatology classi \201 cation of juvenile idiopathic arthritis: 2nd revision , Edmonton 2001. J Rheumatol 31: 390 \200\2232. 20_McClure_20.indd 779 11/14/2012 3:24:09 PM CHAPTER 20 Bones and joints 780 Systemic lupus erythematosus Complex, multisystem autoimmune disorder affecting adolescents (rare in younger children; female:male ratio 20:1). Commoner and more severe in Afro-Carib bean, Hispanic, and Far Eastern girls. The ARA criteria are helpful (90% sensitivity 97% speci \201 city), but less reliable in early disease.1 One of the \200\230great mimics \200\231 of other conditions. The revised ARA criteria for the classi \201 cation of SLE1 SLE is diagnosed if 4 of the 1 1 features present simultaneously or serially: \200 \200 \200 \200 \200 \200 \200 \200 Malar rash Discoid rash Photosensitivity Mouth ulcers Arthritis (non-erosive) Serositis: Re nal disease: Neurological disorder: precipitants Hematological abnormality: haemolytic anem ia or leucopenia <4.0 x 109/L on 2 or more occasions or thrombocytopenia <100 x 109/L Immun ological: antibody, and/or +ve antiphospholipid antibodies Antinuclear antibody pleurisy or pericarditis persistent proteinuria >0.5g/24hr or cellular casts psychosis or seizures in absence of kno wn raised anti DNA binding antibody, anti-Smith Clinical features The presenting complaint may affect any organ system. \200 constitutional symptoms common: low grade fever, weight Non-speci \201 c loss, fatigue, anorexia, and lymphadenopathy. Mucocutaneous problems: mou th ulcers; photosensitivity (50%); Raynaud \200\231s phenomenon (90%); malar \200\230butte r \202 y \200\231 rash over bridge of nose and sparing nasolabial folds; discoid lesions; livido reticularis; urticarial rashes; purpuric rashes; digital vasculitis. Musculoskeletal (90%): polyarthritis resembling rheumatoid arthritis (non-erosive); tendonitis; arthralgia ; myalgia; myositis (5%); aseptic necrosis. Cardiovascular: valvulitis with endocarditis (L ibman \200\223Sachs). Pulmonary: vasculitis; interstitial \201 brosis; pneumonitis. Renal : failure. Hematological: anemia (normochromic normocytic, Coombs +ve haemolytic, renal fai lure, drug-related); leucopenia and lymphopenia common (80%); thrombocytopenia (20%) chroni c, rarely aggressive. hair loss (scarring and non-scarring alopecia); pericarditis (silent or rapidly constrictive); myositis, pleurisy; pleural effusions; haemoptysis from pulmonary hypertension; proteinuria; nephritis; nephrotic syndrome; renal 20_McClure_20.indd 780 11/14/2012 3:24:09 PM SYSTEMIC LUPUS ERYTHEMATOSUS 781 Neurological: emotional liability (70%)); psychoses (rare); seizures (rare); peripheral neu ropathies (10%). Careful antibodies). migraine (40%); mood disorders (anxiety, depression, drug history: especially tetracyclines for acne (+ve antihistone Investigations FBC, LFTs; renal function; BP measurement; urinalysis; ANA (99%), dsD- NA (4 0% , but speci \201 c for SLE); RF; coagulation screen; anticardiolipin and antiphospholip id antibodies. ESR may be raised; CRP low unless serositis or infection; C3, C4 low in acti ve disease. Management: in specialist clinic \200 avoid sun exposure and use sun-screen; treat hypertension; General: and minimize long-term cardiovascular risks. Use ACE inhibitors for nephroprotection for proteinuria. Target and t reat aggressively affected organs. NSAIDs for musculoskeletal symptoms. Hydroxychloroquine for fatigue, rashes, and arthritis. Prednisolone and steroid-sparing drugs (azathioprine (A ZA), MTX, mycophenolate mofetil (MMF)) for other severe manifestations. Prednisolone and cy clophosphamide for active nephritis; then AZA or MMF. Experimental treatments for refractor y cases: cell replacement. \200 \200 \200 rituximab; autologous stem Prognosis \200 Very variable between ethnic groups. Overall 5-yr survival 90% with death from unremitting active disease or immunosuppression. Prognosis worse for those with nephritis (60% after 15 yrs). Bimodal survival curve with long-term increased risk of cardiovascular disease. \200 Reference 1 Tan EM, Cohen AS, Fries JF, et al. (1982). The 1982 revised criteria for the cl assi \201 cation of sys- temic lupus erythematosus. Arthritis Rheum 25: 1271 \200\2237. 20_McClure_20.indd 781 11/14/2012 3:24:09 PM CHAPTER 20 Bones and joints 782 Juvenile dermatomyositis Autoimmune in \202 ammatory disease of skin and muscles. Rare (in ci- dence 2 \200\2233 per million) and occurs between ages of 10 and 14yrs. Cause unknown; infectious and environmental triggers are likely. Diagnostic criteria for juvenile dermatomyositis (JDM)* Erythematous rash plus two other criteria: \200 \200 Symmetrical weakness of proximal muscles Periorbital oedema with heliotrope discoloration; scaly rash over MTPs and PIPs (Grottron \200\231s papules) Elevation of one or more muscles enzymes: CK, AST, LDH, aldolase EMG changes of myopathy and denervation Muscle biopsy evid ence of necrosis and in \202 ammation MRI (has largely superseded EMG and muscle biopsy in children) \200 \200 \200 Modi \201 ed from Bohan A, Peter JB. (1975). Polymyositis and dermatomyositis. N Engl J Me d 292: 403 \200\2237. Clinical features \200 \200 Onset usually insidious, rash may precede muscle weakness. Rash: periorbital oedema with he liotrope discolouration of upper lids; facial rash includes nasolabial folds (unlike SLE); erythematous maculopapular rash over extensor surfaces of MCP, PIPs, elbows, and knees (Gro ttron \200\231s papules); nail-fold vasculitis. Muscles: fatiguability of arms and legs; tr uncal weakness (unable to sit from lying); \200\230Gower \200\231s sign \200\231 (b p.733) ; palatal and respiratory muscles affected in severe cases with nasal speech, poor swallowi ng, decreased lung volume. Arthritis Lung disease typically symmetrical proximal muscle weakness with \200 (60%): 2/3 oligoarthritis; 1/3 polyarthritis. (uncommon): interstitial \201 brosis; pulmonary vasculitis. Diagnosis is usually made by typical rash, proximal muscle weakness, raised muscle enzymes, and typical MRI changes. Differential diagnosis Infectious myositis (usually viral); overl ap with autoimmune disorder (SLE and mixed connective tissue disease (MCTD)); systemic arth ritis JIA. Late complications \200 Calcinosis: subcutaneous fat and muscle. Super \201 cial lesions may be painful, erupt, an d discharge. Sheets of calci \201 cation may prevent movement and usually resolve with tim e. Tumoural deposits may be surgically removed. Lipodystrophy: associated with insulin resi stance, diabetes, liver disease, and short stature. linked with active myositis; occurs in skin, fascia, generalized or partial; painless; generalized form 20_McClure_20.indd 782 11/14/2012 3:24:09 PM JUVENILE DERMATOMYOSITIS 783 Investigations \200 \200 Muscle enzymes: ANA in children. ESR and CRP: MRI affected muscles. EMG: recruitment, \201 brillations, and repetitive discharges. Muscle biopsy can show histological evidence o f necrosis and in \202 ammation. CK; LDH; aldolase; AST; ALT. (6 \200\22360%): may be raised; Myositis-speci \201 c antibodies rarely present \200 variable. (STIR or T2 fat suppressed): diffuse white signal throughout low amplitude, short-duration polyphasic potentials with early Monitoring \200 \200 Regular examination: Aim to maintain function, normalize muscle enzymes, and limit steroid effects on growth. muscle strength testing and muscle enzymes. Course and treatment The condition may be uniphasic, polyphasic, or continuous. Corticoster oids are the mainstay of treatment. Methotrexate is used in more severe and persistent seve re cases as a steroid-sparing drug. Cyclophosphamide is used in some centers for vasculitis . Treat for 18mths after remission induced. Some evidence that aggressive treatment may min imize calcinosis. 20_McClure_20.indd 783 11/14/2012 3:24:09 PM CHAPTER 20 Bones and joints 784 Mixed connective tissue disease \200\224 overlap syndromes Combined features of SLE, progre ssive systemic sclerosis, and dermato- myostis with positive ribonucleoprotein (RNP) antibo dy. \200 Prognosis and management similar to that of SLE , but more benign prognosis because renal a nd CNS involvement are rare. Clinical features \200 \200 \200 \200 Raynaud \200\231s phenomenon (common). Swollen hands and \201 ngers (common). Polyarthrit is: Rashes: also b p.839. Muscle weakness and myositis. Restrictive lung disease and pulmon ary hypertension (rare). symmetrical peripheral. similar to SLE or JDM rash; tight non-elastic skin of hands. See \200 Differential diagnosis b p.768). \200 Systemic onset JIA ( \200 RF-positive polyarticul ar JIA ( \200 b p.780). SLE ( b p.774). Investigations \200 \200 \200 \200 \200 \200 Characteristic anti-RNP antibody. Other autoantibodies: FBC: CXR. Renal function. Echocardi ogram: pulmonary hypertension in established disease. ANA +ve (90%); RF +ve (often). leucopenia; thrombocytopenia. screen for right ventricular hypertrophy secondary to 20_McClure_20.indd 784 11/14/2012 3:24:09 PM MIXED CONNECTIVE TISSUE DISEASE \200\224OVERLAP SYNDROMES 785 20_McClure_20.indd 785 11/14/2012 3:24:09 PM CHAPTER 20 Bones and joints 786 Scleroderma Hard, tight, inelastic skin and subcutaneous tissue. Female to male ratio is 2: 1. Two distinct syndromes. Localized scleroderma (morphoea, linear scleroderma) \200 \200 Lesions con \201 ned to the skin are termed morphoea. Lesions that involve the underlying tissues, sometimes down to bone, are termed linear scleroderma (LS). In both types there is an initial in \202 ammatory phase with single or multiple \202 esh-colored or erythemat ous plaques. These evolve into \201 rm, waxy, yellow-white shiny lesions with violaceous borders. Growth of the region under LS is arrested and this can result in severe growth and cosmetic deformities. Linear lesions across the forehead to the nose are termed \200\230e n coup de saber \200\231. These lesions may extend down to the brain and be associated with epilepsy. Oligoarthritis (10%) can precede skin changes. Oesophageal involvement not infre quent, but no other systemic changes. \200 Systemic sclerosis (SSC or progressive systemic sclerosis PSS) \200 Raynaud \200\231s phenomenon is universal (often the presenting symptom); severe attacks ca n result in digital ischaemia, ulceration, and bony resorption. Skin changes follow with oe dema and in \202 ammation. Symmetrical involvement of the metacarpal phalangeal (MCP) join t and metatarsal phalangeal (MTP) joints. Finger oedema lasts for several weeks and is repl aced by taut, waxy, shiny, thickened skin that eventually becomes atrophic. Finger tip skin may crack ( \200\230mechanics \200\231s hands \200\231). Facial involvement: gape. Nail fo lds are ragged with telangiectasia. Joints: stiff from overlying scleroderma. Occasional ol igoarthritis. Dysmotility and bowel wall thickening can occur throughout the bowel leading to malabsorption, wasting, bloating, abdominal cramps, diarrhea, or severe constipation. Pu lmonary \201 brosis and pulmonary hypertension are initially asymptomatic. When more seve re they lead to dyspnoea, syncope, and death. Myocarditis, pericarditis, and arrhythymias r eported. Renal disease with crisis used to be commonest cause of death. pinched nose, expressionless fa ade, and decreased \200 \200 \200 Investigations \200 FBC, ESR; LFTs, renal function including BP; ANA, anti-centromere, and anti-topoisomerase a ntibodies. CXR; ECG; echocardiogram to screen for pulmonary hypertension. LFTs and CT scan if \201 brosis or pulmonary hypertension. \200 20_McClure_20.indd 786 11/14/2012 3:24:09 PM SCLERODERMA 787 Treatment and management No treatment is consistently effective in slowing or preventing \201 brosis and sclerosis in severe progressive cases. MTX, mycophenolate, ciclosporin, and low dose steroids have been used in the in \202 ammatory phase. Steroids and ciclosporin may precipitate scleroderma renal crisis (check for hyper- tension and treat with ACE inhib itors). Symptomatic treatment depending on organ involvement: Raynaud \200\231s: prostacyclin for s evere attacks and digital gangrene; GI tract: pump inhibitors for acid secretion; pancreati c supplements. hand warmers; double gloves; oral or topical vasodilators; avoid NSAIDs. Metoclopramide aids gut motility; proton Prognosis \200 Localized may occur if bone involvement with linear scleroderma. SSC/PSS: hypertension and renal crisis. scleroderma: generally good prognosis. Cosmetic deformities poor prognosis. 5yrs survival 34 \200\22373%. Death from pulmonary 20_McClure_20.indd 787 11/14/2012 3:24:10 PM CHAPTER 20 Bones and joints 788 Henoch \200\223Sch nlein purpura Small vessel vasculitis associated with IgA immune comple xes. A triad of arthritis, colicky abdominal pain, and palpable, papular, purpuric rash. Ch aracteristically affects prepubertal boys. Clinical features \200 palpable purpura over buttocks and lower legs. Severe skin Skin rash: vasculitis can lead t o oedema (dorsum hand, scrotum, and periorbital). Arthritis: elbows). Gastrointestinal: hae matemesis, intussusception, perforation, appendicitis. dipstick haematuria and proteinuria present (50%). Renal: Glomerulonephritis and nephrotic syndrome rare. typically short-lived affecting large joints (knees, ankles, or colicky abdominal pain (commonest), malaena, Investigations \200 FBC, renal function, dipstick urinalysis, and full renal investigation with biopsy if evide nce of renal involvement (crescentic IgA glomerulonephritis). Skin biopsy rarely necessary: Abdominal investigations as per symptoms. \200 leucocytoclastic vasculitis. Treatment and prognosis Most cases have a benign course with complete resolution of symptom s within 6wks. NSAIDs help arthritis symptoms. Corticosteroids for abdom- inal pain and art hritis may hasten symptom resolution. Test for haematuria because nephritis and nephritic s yndrome carry worse prognosis for hy- pertension and decreased renal function. 20_McClure_20.indd 788 11/14/2012 3:24:10 PM POLYARTERITIS NODOSA 789 Polyarteritis nodosa Rare, medium-vessel necrotizing vasculitis with aneurysm formation. Ma le:female ratio 2:1. Clinical \200 Antecedent systemic illness with unexplained fevers, abdominal pains, and arthralgia of up to 1yr. Testicular pain in males (often mistaken for torsion). Vasculitis or purpuric skin rash. Arthritis (30%) large joints: vasculitis and periosteal new bone formation. Renal: an eurysms. GI involvement CNS: \200 \200 exquisite bony tenderness from peripheral hypertension; haematuria, proteinuria; renal failure; intrarenal \200 (50%): abdominal pain; pancreatitis; bowel infarction. mononeuritis multiplex; peripheral neuropathy; \201 ts; hemiplegia. Investigations \200 \200 \200 \200 FBC; LFTs may be elevated. Renal function MRI; MR angiography to reveal multiple aneurysms. Histology: weakening of artery walls, and aneurysms. Segmental lesions at bifurcations of small- and medium-vessel walls. urinalysis for active sediment. panarteritis with \201 brinoid necrosis, thrombosis, infarction, Course and treatment Without treatment may be fatal. Often under recognized and undertreate d in children. If treated promptly, with pulsed cyclophosphamide and high dose steroids, pr ognosis improved. 20_McClure_20.indd 789 11/14/2012 3:24:10 PM CHAPTER 20 Bones and joints 790 Wegener \200\231s granulomatosis Triad of ANCA positive small vessel vasculitis, respirator y tract granu- lomata, renal disease. Rare. Usually diagnosed in adolescents (male = female ). Staphylococcus aureus may have role in pathogenesis since 3 times greater carriage in We gener \200\231s granulomatosis (WG). Clinical features \200 Subacute disease can be present for years. Transformation into systemic disease (malaise, f ever, weight loss, vasculitis) occurs. ENT (90%): media; sinusitis. Nasal septum and sinus wall destruction (saddle nose deformity). Pulmonary (80%): lower bronchial obstruction with atelectasis and pneumonia; pulmonary hemorrhage; asymptomatic nodules. Renal (90%): haemat uria; mild renal impairment) to fulminant diffuse necrotizing crescentic glomerulonephritis and renal failure. Arthritis (50%): common (60%). Skin (40%): reticularis; pyoderma gangre nosum. CNS (30%): neuropathy. Eye lesions: nasal crusting, obstruction, and ulceration; serous otitis subglottic stenosis (stridor); haemoptysis (25%); varies from mild asymptomatic (commoner microscopic non-erosive polyarthritis; muscle and joint pains palpable purpura of leucocytoclastic vasculitis; livido mononeuritis multiplex and sensorimotor peripheral episcleritis; uveitis; orbital pseudotumour. Investigations \200 Blood: \200 FBC (normocytic, normochromic anemia, leucocytosis, thrombocytosis). ESR and CRP raised (di fferential diagnosis: infection); renal screen with BP measurement and urinalysis at each v isit. Renal biopsy if active sediment and declining renal function; CANCA (proteinase 3) po sitive in 90% patients with generalized WG. High speci \201 city. : Lungs \200 CXR, sputum culture, and cytology; CT lungs; bronchoscopy and biopsy if indicated. CT sinus es +/ \200\223 nasendoscopy and biopsy. Histology: vasculitis in respiratory tract. necrotizing, giant cell, granulomatous, medium vessel Course and treatment \200 Systemic to induce remission. Remission maintenance with MTX or AZA. Minimize total steroid load. Only stop after min. 12mths disease-free. Subacute respond to MTX alone or with low dose steroids. Long-term co-trimoxazole in remission reduces pulmonary infection and relaps e rates. 10yr survival 75%; morbidity considerable. disease: treated with pulsed IV cyclophosphamide and steroids and limited disease: have variable (milder) course; may 20_McClure_20.indd 790 11/14/2012 3:24:10 PM TAKAYASU \200\231S ARTERITIS (PULSELESS DISEASE) 791 Takayasu \200\231s arteritis (pulseless disease) Rare chronic granulomatous panarteritis af fecting aorta and large arteries. Adolescent Asian (Japanese) girls and young women most su sceptible. Clinical features \200 Subclinical growth, unexplained fevers, and episodic arthritis (50%). Pulseless phase: diag noses often made incidentally. \200 prepulseless phase may last years: anorexia, fatigue, poor diminished peripheral pulses and aortic dilatation on CXR or hypertension and renal artery stenosis; dramatic presentation with severe hypertensive encephalopathy and seizures; conge stive cardiac failure; aortic valvulitis and aortic regurgitation; pulmonary stenosis; s to paroxysmal hypertension or paroxysmal tachycardias syncope with facial \202 ushing heada ches, chest pain, dyspnoea, and palpitations. May be triggered by changes in posture or mic turition (i.e. baroreceptor hypersensitivity). Investigations \200 FBC (normochromic normocytic anemia, thrombocytosis); ESR and gamma globulins very elevated even in the prepulseless phase. Imaging: show characteristic arterial dilatation, post-ste notic dilatation, aneurysm, thrombosis, and occlusion of the proximal branches of the aorta . high resolution carotid US, angiography, or MR angiography Treatment \200 -blockers and ACE inhibitors. Avoid Manage hypertension: vasodilators. initially high dose steroids (prednisolone 1mg/kg/ Treat vasculitis: day or equivalent) with MTX or AZA as steroid-sparing drugs. Cyclophosphamide for severe or resistant cases. range from angioplasty to bypass grafting. Surgery: Prognosis 10yr survival 90%, although the majority (75%) have some impairment of daily livi ng, and 50% are disabled. Prognosis depends on hypertension and aortic incompetence. Succes sful planned pregnancy is possible. 20_McClure_20.indd 791 11/14/2012 3:24:10 PM This page intentionally left blank 793 Chapter 21 Adolescent health Communication 794 Adolescence: overview 796 Adolescent health problems 798 Substance misuse 800 Sexual health problems 801 Adolescence and chronic illness 802 21_McClure_21.indd 793 11/14/2012 3:29:53 PM CHAPTER 21 Adolescent health 794 Communication See also b pp.575 \200\223576, 1034, 1038. The primary goal of any consultati on with an adolescent, regardless of the presenting complaint, is to establish a relationsh ip of trust. This calls for effective and ef \201 cient communication. However, achieving this is often dif \201 cult and challenging, particularly when faced with a personality wh o is undergoing rapid psychological and social change, and who does not have an adult \200 \231s perspective of health issues and society. Young people may be seen by themselves, as well as with their parents. Parents should not be excluded, but it is important to emphasiz e that the adolescent is the center of the consultation. Communication of information shoul d be in a manner appropriate for development. Have a style of communication that is: open; sensitive; empathetic; non-judgemental. \200 \200 \200 A positive regard and respect for any differing values and practices should be exhibited. A t all times there must be reassurances about con \201 dentiality. \200 \200 \200 \200 Use an open-ended questioning style. Avoid medical jargon and inappropriate reassurance of normality. Allay fears and anxieties. Abstract concepts should be avoided. The HEADSS protocol (Box 21.1) is a psychosocial history toolkit speci \201 - cally design ed for adolescent health-related consultations.1 Box 21.1 The HEADSS protocol* Home life including relationship with parents H E Education or employment, including \201 nancial issues A Activities including sports (also note friendships and social relationships, especially clo se friendships) A Affect (mood, particularly whether mood is responsive to situations) D Drug use, including cigarettes and alcohol S Sex (information on intimate relationships and sexual risk behaviors may be important in bo th acute and chronic illnesses in adolescents) Suicide, depression, and self-harm Sleep S S Reproduced from Christie D, Viner R. (2005). Adolescent development. Br Med J 330: 301 \200 \2234, with kind permission from BMJ (adapted from reference 1). Reference 1 Goldenring J, Cohen E. (1998). Getting into adolescents HEADSS. Contemp Pediatr Jul, 75 \200\22380. 21_McClure_21.indd 794 11/14/2012 3:29:53 PM COMMUNICATION 795 21_McClure_21.indd 795 11/14/2012 3:29:53 PM CHAPTER 21 Adolescent health 796 Adolescence: overview Adolescence is the transition period before adulthood. A number of ph ysi- cal and psychological objectives are achieved. Physical and psychological objectives of adolescence \200 \200 \200 \200 \200 \200 Achievement of physical maturation. Achievement of sexual maturation. Attainment of persona l identity. Establishment of independence. Establishment of autonomy. Development of sexual relationships. Adolescence is therefore \201 lled with major changes that need to be taken into account when caring for adolescents with health-related problems. Management of adolescents: key areas to consider Communication issues Appreciation of adole scent-relevant issues, e.g. sex/drugs/smoking. Physical examination \200 \200 Privacy and personal integrity. Pubertal assessment. Psychosocial issues \200 Personal identity. \200 Compliance. Ethical and legal issues \200 \200 \200 Consent. Competence. Con \201 dentiality. All those working with adolescents need to acquire the appropriate skills to manage and com municate effectively with young people. Psychological development Adolescence marks the beginning of the development of more comple x thinking processes. These include: \200 \200 \200 \200 \200 \200 The ability for abstract thinking (thinking about possibilities). The ability to reason fro m known principles (form own new ideas or questions). The ability to consider many points o f view according to different criteria (i.e. compare or debate ideas or opinions). The abil ity to think about the process of thinking. 21_McClure_21.indd 796 11/14/2012 3:29:53 PM ADOLESCENCE: OVERVIEW 797 During adolescence, young people acquire the ability to think systemati- cally about all lo gical relationships within a problem. The transition from concrete thinking to formal logic al conclusions occurs over time. Each adolescent progresses at varying rates in developing his/her ability to think in more complex ways. Some adolescents may be able to apply logica l operations to school work long before they are able to apply them to personal dilemmas. W hen emotional issues arise, they often interfere with an adolescent \200\231s ability to th ink in more complex ways. The ability to con- sider possibilities, as well as facts, may in \202 uence decision-making, in either +ve or \200\223ve ways. The interactions that occu r between puberty and psy- chological development are important, esp. in the context of dev eloping self-esteem and a sense of sexuality and body image.