oxford american handbook of rheumatology

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Oxford American Handbook of Rheumatology

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Director, The Johns Hopkins Vasculitis Center

Director, Johns Hopkins Rheumatology Fellowship Associate Professor of Medicine

3

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Library of Congress Cataloging-in-Publication Data

Seo, Philip.

Oxford American handbook of rheumatology / Philip Seo.—2nd ed.

p ; cm.—(Oxford American handbooks)

Handbook of rheumatology

Adapted from: Oxford handbook of rheumatology / Alan J Hakim,

Gavin P.R Clunie, Inam Haq 3rd ed 2011.

Includes bibliographical references and index.

ISBN 978–0–19–990799–1 (alk paper)

I Hakim, Alan Oxford handbook of rheumatology II Title III Title: Handbook of rheumatology IV Series: Oxford American handbooks [DNLM: 1 Rheumatic Diseases—Handbooks WE 39]

LCClassifi cation not assigned

9 8 7 6 5 4 3 2 1

Printed in the United States of America

This material is not intended to be, and should not be considered, a stitute for medical or other professional advice Treatment for the con-ditions described in this material is highly dependent on the individual circumstances Although this material is designed to offer accurate infor-mation with respect to the subject matter covered and to be current as

sub-of the time it was written, research and knowledge about medical and health issues are constantly evolving and dose schedules for medica-tions are being revised continually, with new side effects recognized and accounted for regularly Readers must therefore always check the product information and clinical procedures with the most up-to-date published product information and data sheets provided by the manufacturers and the most recent codes of conduct and safety regulation Oxford University Press and the authors make no representations or warranties to readers, express or implied, about the accuracy or completeness of this material, including, without limitation, that they make no representation or war-ranties about the accuracy or effi cacy of the drug dosages mentioned in the material The authors and the publishers do not accept, and expressly disclaim, any responsibility for any liability, loss, or risk that may be claimed

or incurred as a consequence of the use and/or application of any of the contents of this material

Foreword

Patients with rheumatic disorders present so many different challenges that almost every practicing physician needs some familiarity with rheu-matology An abbreviated litany of common rheumatic symptoms and signs–arthralgias, myalgias, weakness, back pain, and neck pain–reinforces the observation that rheumatic disorders are among the most frequent reasons patients present to family physicians, general internists, geriatri-cians, and orthopedists Although many rheumatic diseases are temporary nuisances, others can cause life-threatening, multisystem diseases that can

be encountered by hospitalists, critical care specialists, nephrologists, diologists, neurologists, and a myriad of other consultants Distinguishing among the more than 150 different forms of arthritis, although often chal-lenging, is important, given the recent dramatic increase in specifi c and effective therapies that are now available

Fortunately, this handbook will offer any physician substantial help in meeting the challenges posed by rheumatic diseases The liberal use of bulleted summary points and tables makes this handbook both concise and thorough Physicians eager to improve their clinical skills will enjoy the excellent photographs that illustrate important aspects of the muscu-loskeletal physical examination The chapter on rheumatic emergencies will be especially useful to hospitalists

I believe this handbook will allow many physicians to experience the joy and sense of accomplishment that can come from diagnosing and treating patients with rheumatic diseases

David B Hellmann, M.D., M.A.C.P Aliki Perroti Professor of Medicine Vice Dean, Johns Hopkins Bayview Medical Center Chairman, Department of Medicine Johns Hopkins Bayview The Johns Hopkins University School of Medicine

Preface

Rheumatology is one of the last great frontiers in medicine In this modern era, in which we hear less about neck veins and more about BNP levels, rheumatology remains the exception to the rule Despite the growing number of diagnostic tests we have at our disposal, they remain a mere adjunct to the patient evaluation This is one of the last subspecialties in which it is not only common, but appropriate, to ignore a positive ANA or joint space narrowing, and instead listen to what the patient has to say That said, rheumatology is a fi eld in transition Long behind us are the days

in which clinical trials compared the effi cacy of one NSAID to another The advent of biologic agents in particular has led to a new era in thera-peutics in which largely nonspecifi c immunosuppressive drugs are being replaced by progressively more nuanced agents The day that molecular phenotyping of patients joins clinical phenotyping as a way of selecting treatment strategies cannot be far behind

During the last few years, the rate of transitions has occurred at neck speed Since the publication of the fi rst edition, new classifi cation criteria have been published for systemic lupus erythematosus, Sj ö gren’s syndrome, polymyalgia rheumatica, and rheumatoid arthritis For the fi rst time, we have FDA-approved agents for the treatment of both systemic lupus erythematosus and ANCA-associated vasculitis Finally, we are start-ing to see oral biologic agents hit the market, allowing patients to take advantage of our most advanced therapeutics without subjecting them

of getting a toehold in this daunting fi eld

More than anything else, this book is meant to provide you with an approach to the patient, and a framework on which you can build This book represents just the beginning of a continually evolving, continuously changing story that never fails to fascinate

Philip Seo, MD, MHS Director, the Johns Hopkins Vasculitis Center Director, Johns Hopkins Rheumatology Fellowship

Associate Professor of Medicine Johns Hopkins University School of Medicine

Acknowledgments

Last year, I became Director of the Rheumatology Fellowship at Johns Hopkins, and with that new position came a deep sense of obligation to improve my general understanding of rheumatology—no small feat after many years of seeing only patients with systemic vasculitis

My new position has allowed me to work even more closely with my leagues, and has left me awestruck by the depths of both their knowledge and their generosity

As I have said before, the greatest gift that a fellow academic can give is his or her time I am therefore pleased to thank publicly my friends and colleagues who graciously reviewed these chapters during airport layo-vers and other moments stolen from far more deserving obligations: Alan Baer, Clifton (Bing) Bingham, Lisa-Christopher-Stine, Fred Wigley, Grant Louie, Laura Hummers, Khalil Ghanem, Michelle Petri, Geeta Sood, and Sangeeta Sule

This motley crew gently (or not so) informed me when I was woefully misinformed—which was more often than I would like to admit—and credit for many of the improvements to this second edition really belongs

be remiss if I did not thank Andrea Seils, Senior Editor of Clinical Medicine

at Oxford University Press, whose encouragement and support have been invaluable

Finally, I dedicate this work to my family, who mean more to me with each passing year: Kyung Hwa Seo, Hae Ja Yoon Seo, Susan Seo, and Ellen Seo I also dedicate this work to my niece and nephew, Avery Pusey and Jackson Pusey, who—as they pointed out to me—I had neglected to name in the

fi rst edition, but are never far from my heart

Philip Seo BaltimoreFebruary 2013

Contents

Detailed contents xv

List of color plates xxi

Symbols and abbreviations xxiii

Part 1: The presentation of rheumatic disease

1 Evaluating musculoskeletal pain 3

2 Regional musculoskeletal conditions: making a

9 Juvenile idiopathic arthiritis (JIA) 309

11 The antiphospholipid (antibody)

syndrome (APS) 351

14 Idiopathic infl ammatory myopathies—

polymyositis (PM) and dermatomyositis (DM) 397

16 Metabolic bone diseases and disorders

Detailed contents

List of color plates xxi

Symbols and abbreviations xxiii

Part 1 The presentation of rheumatic disease

Introduction 4

Localization of pain and pain patterns 6

Changes in pain on examination 8

The assessment of pain in young children 9

2 Regional musculoskeletal conditions: making

Symptoms in the hand 46

Upper limb peripheral nerve lesions 58

Thoracic back and chest pain 64

Low back pain and disorders in adults 70

Spinal disorders in children and adolescents 84

Pelvic, groin, and thigh pain 92

Knee pain 104

Lower leg and foot disorders (adults) 118

Child and adolescent foot disorders 132

Corticosteroid injection therapy 142

Principles of rehabilitation 146

3 Patterns of disease presentation: making a working

diagnosis 149

Monoarticular pains in adults 150

Oligoarticular pains in adults 152

Oligoarticular pains in children and adolescents 162

Widespread pain in adults 170

Widespread pain in children and adolescents 186

Skin disorders and rheumatic disease 196

Skin vasculitis in adults 202

Skin vasculitis in children and adolescents 206

Disease criteria and epidemiology 236

Incidence, prevalence, and morbidity 238

The clinical features of rheumatoid arthritis 239

Organ disease in rheumatoid arthritis 240

The evaluation and treatment of rheumatoid arthritis 244

Rheumatoid factor positive polyarthritis in childhood 259

Gout and hyperuricemia 272

Calcium pyrophosphate dihydrate (CPPD) disease 278

Basic calcium phosphate (BCP) associated disease 281

Calcium oxalate arthritis 282

Rheumatoid factor negative polyarthritis in childhood 321

Rheumatoid factor negative polyarticular JIA 322

Rheumatoid factor positive polyarticular JIA 324

Juvenile psoriatic arthritis 325

Enthesitis related arthritis 326

Chronic, infantile, neurological, cutaneous, & articular

syndrome (CINCA) 327

Still’s disease 328

10 Systemic lupus erythematosus (SLE) 329

Introduction 330

The clinical features of SLE 334

Antiphospholipid (antibody) syndrome and SLE 338

Pregnancy and SLE 339

Diagnosis and investigation of SLE 340

Drug-induced lupus erythematosus (DILE) 342

The treatment of SLE 344

Prognosis and survival in SLE 348

Childhood SLE 349

Neonatal SLE 350

11 The antiphospholipid (antibody) syndrome (APS) 351

Introduction 352

Epidemiology and pathology 353

Clinical features of APS 354

13 Systemic sclerosis and related disorders 373

Epidemiology and diagnostic criteria 374

Cutaneous features of scleroderma and

Summary—the approach to systemic sclerosis 392

Scleroderma-like fi brosing disorders 394

14 Idiopathic infl ammatory myopathies—

polymyositis (PM) and dermatomyositis (DM) 397

Epidemiology and diagnosis 398

Clinical features of PM and DM 400

Takayasu’s arteritis 422

Polymyalgia rheumatica and giant cell arteritis 424

Polyarteritis nodosa 429

Granulomatosis with polyangiitis (Wegener’s granulomatosis) 430

Other forms of AAV: microscopic polyangiitis (MPA) and

eosinophilic granulomatosis with polyangiitis (EGPA) 434

Small-vessel and single organ vasculitis 438

Kawasaki disease 442

16 Metabolic bone diseases and disorders of

collagen 443

Osteoporosis 444

Osteomalacia and rickets 454

Parathyroid disease and related disorders 458

Paget’s disease of bone 466

Miscellaneous diseases of bone 470

Molecular abnormalities of collagen and fi brillin 474

17 Infection and rheumatic disease 481

Miscellaneous skin conditions associated with arthritis 508

Chronic regional pain syndrome 514

19 Common upper limb musculoskeletal lesions 529

Shoulder (subacromial) impingement syndrome 530

Adhesive capsulitis (AC) 533

Lateral epicondylitis (tennis elbow) 534

Conditions causing acute or subacute back

pain in adults 538

Management of chronic back pain 544

Management of back pain in children and adolescents 546

21 Complementary and alternative medicine in

rheumatology 553

Introduction 554

Herbal remedies (phytotherapy) 555

Physical and hands-on therapies 556

List of color plates

Plate 1 MR scan of the neck showing loss of height and signal affecting several discs with multisegmental spondylotic bars, compression of the cord from protrusion of the C5/6 disc and myelopathic changes (high sig-nal) in the cord

Plate 2 Patterns of radiographic abnormality in chronic SAI: sclerosis and cystic changes in greater tuberosity

Plate 3 Dactylitis, nail changes, and DIP joint arthritis in psoriatic arthritis Plate 4 (a) Normal nailfold capillaries (b) Nailfold capillaries in sclero-derma showing avascular areas and dilated capillaries in an irregular orien-tation (original magnifi cation 65x)

Plate 5 Diffuse arm and hand swelling in chronic regional pain syndrome (refl ex sympathetic dystrophy)

Plate 6 Slight fl exion of fourth and fi fth fi ngers as a result of an ulnar nerve lesion at the elbow The area of sensory loss is indicated by the dotted line

Plate 7 Psoriatic spondylitis: Nonmarginal and “fl oating” (nonattached) syndesmophytes

Plate 8 Spondylolysis The defect in the pars interarticularis (black arrows) may only be noted on an oblique view The patient has had a spinal fusion (open arrows)

Plate 9 Testing passive hip fl exion and rotational movements (a) and hip abduction (b).The pelvis should be fi xed when testing abduction and adduction

Plate 10 Bone scintigraphy showing osteonecrosis of the left femoral head (on the right-hand side as this is an anterior view) Photopenia (an early sign) corresponds to ischemia

Plate 11 The “patellar tap” test Any fl uid in the suprapatellar pouch is squeezed distally by the left hand The patella is depressed by the right hand It will normally tap the underlying femur immediately Any delay in eliciting the tap or a feeling of damping as the patella is depressed suggests

Plate 15 Injection of the carpal tunnel to the ulnar side of the palmaris longus tendon

Plate 16 Nodules associated with joint diseases (a) RA: typically over extensor surfaces and pressure areas (b) Chronic tophaceous gout: tophi can be indistinguishable clinically from RA nodules though may appear as eccentric swellings around joints (image provided courtesy of Dr R A Watts) (c) Multicentric reticulohistiocytosis: nodules are in the skin, are small, yellowish-brown, and are often around nails (d) Nodal OA: swelling

is bony, typically at PIPs and DIPs

Plate 17 Bone scintigraphy ( 99m Tc MDP) of a 65-year-old man with spread bone pain and weakness suspected to have metastatic malignancy Undecalcifi ed transiliac bone biopsy confi rmed severe osteomalacia There was coincidental Paget’s disease (arrowed lesions)

Plate 18 Increased growth of the left lower limb due to chronic knee infl ammation in (RF-) JIA

Plate 19 Lupus pernio presenting as a bluish-red or violaceous swelling of the nose extending onto the cheek

Plate 20 Nailfold capillaries, demonstrating normal capillary loops Magnifi ed 300x Photograph used with the kind permission of Graham Dinsdale, Tonia Moore, and Ariane Herrick

Plate 21 Nailfold capillaries, demonstrating abnormal capillary loops, including capillary loop dilatation and dropout Magnifi ed 300x Photograph used with the kind permission of Graham Dinsdale, Tonia Moore, and Ariane Herrick

AC(J) Acromioclavicular (joint)

ACR American College of Rheumatology

ADM Abductor digiti minimi

ANCA Antineutrophil cytoplasmic antibody

APB Abductor pollicis brevis

APL Abductor pollicis longus

APS Antiphospholipid (antibody) syndrome

ARA American Rheumatism Association

ASOT Antistreptolysin O titer

ASU Avocado/soybean unsaponifi able

BCP Basic calcium phosphate (crystals)

BJHS Benign joint hypermobility syndrome

BMC Bone mineral content

BSR British Society of Rheumatology

C Cervical (e.g., C6 is the sixth cervical vertebra)

CINCA Chronic, infantile, neurological, cutaneous, and

Dual-energy X-ray absorptiometry

DIP(J) Distal interphalangeal (joint)

DISH Diffuse idiopathic skeletal hyperostosisDLCO Diffusion capacity for carbon monoxide

DMARD Disease-modifying antirheumatic drug

ECG (EKG) Electrocardiogram

ECRB Extensor carpi radialis brevis

ECRL Extensor carpi radialis longus

ECU Extensor carpi ulnaris

EDL Extensor digitorum longus

EDM Extensor digiti minimi

EHL Extensor hallucis longus

ELMS Eaton–Lambert myasthenic syndrome

ENA(S) Extractable nuclear antigen(s)

EPB Extensor pollicis brevis

EPL Extensor pollicis longus

ERA Enthesitis-related arthritis

ESR Erythrocyte sedimentation rate

ESSG European Spondyloarthropathy Study Group

EULAR European League Against Rheumatism

FCR Flexor carpi radialis

FDP Flexor digitorum profundus

FDS Flexor digitorum superfi cialis

FHB Flexor hallucis brevis

FMF Familial Mediterranean fever

FPL Flexor pollicis longus

GARA Gut-associated reactive arthritis

GBS Guillain Barr é syndrome

GCA Giant cell arteritis

GFR Glomerular fi ltration rate

GOA Generalized osteoarthritis

HSP Henoch–Sch ö nlein purpura

HTLV Human T-cell leukemia virus

ILAR International League of Associations for

Rheumatology

INR International normalized ratio

ITP Idiopathic thrombocytopenic purpuraJCA Juvenile chronic arthritis

JIA Juvenile idiopathic arthritis

JIO Juvenile idiopathic osteoporosis

L Lumbar (e.g., L5 is the fi fth lumbar vertebra)LCL Lateral collateral ligament

LFTS Liver function tests

lcSScl Limited cutaneous systemic sclerosisMCP(J) Metacarpophalangeal (joint)

MCL Medial collateral ligament

MCTD Mixed connective tissue disease

MPA Microscopic polyangiitis

PBC Primary biliary cirrhosis

PCR Polymerase chain reaction

PIN Posterior interosseous nerve

PIP(J) Proximal interphalangeal (joint)

PSA Psoriatic arthritis

PSA Prostatic specifi c antigen

PVNS Pigmented villonodular synovitis

qhs Every night, at bedtime

RSD Refl ex sympathetic dystrophy (algo/osteodystrophy)

RSI Repetitive strain injury

RS3PE Remitting seronegative symmetrical synovitis with

pitting edema

RTA Renal tubular acidosis

sACE Serum angiotensin converting enzyme

SAPHO Synovitis, acne, palmoplantar pustulosis, hyperostosis,

aseptic osteomyelitis (syndrome)

SARA Sexually transmitted reactive arthritis

SC(J) Sternoclavicular (joint)

SI(J) Sacroiliac (joint)

SLE Systemic lupus erythematosus

TENS Transcutaneous electrical nerve stimulationTFTs Thyroid function tests

TIA Transient ischemic attack

The presentation

of rheumatic

disease

1 Evaluating musculoskeletal pain 3

2 Regional musculoskeletal conditions:

3 Patterns of disease presentation: making a

4 The spectrum of presentation

Part I

Localization of pain and pain patterns 6

Changes in pain on examination 8

The assessment of pain in young children 9

Introduction

Pain is the most common musculoskeletal symptom It is defi ned by its subjective description, which may vary depending on its physical (or bio-logical) cause, the patient’s understanding of it, its impact on function, and the emotional and behavioral response it invokes Pain is also often colored by cultural, linguistic, and religious differences Therefore, pain is not merely an unpleasant sensation; it is in effect an emotional change The experience is different for every individual Patients who think of them-selves as having a high pain threshold may have the hardest time coping

In children and adolescents, the evaluation of pain is sometimes cated further by the interacting infl uences of the experience of pain within the family, school, and peer group

compli-This page intentionally left blank

Localization of pain and pain patterns

• Adults usually localize pain accurately, although there are some situations worth noting in rheumatic disease where pain may be poorly localized (see Table 1.1)

• Adults may not clearly differentiate between periarticular and articular pain, referring to bursitis, tendonitis, and other forms of soft tissue injury as “joint pain.” Therefore, it is important to confi rm the precise location of the pain on physical examination

• Bone pain is generally constant despite movement or change in posture—unlike muscular, synovial, ligament, or tendon pain—and often disturbs sleep Fracture, tumor, and metabolic bone disease are all possible causes Such constant, localized, sleep-disturbing pain should always be investigated

• Patterns of pain distribution are associated with certain

musculoskeletal conditions For example, polymyalgia rheumatica (PMR) typically affects the shoulder girdle and hips, whereas

rheumatoid arthritis (RA) affects the joints symmetrically, with a predilection for the hands and feet

• Patterns of pain distribution may overlap, especially in the elderly, who may have several conditions simultaneously For example, hip and/or knee osteoarthritis (OA), peripheral vascular disease, and degenerative lumbar spine all may cause lower extremity discomfort

The quality of pain

Some individuals fi nd it hard to describe pain or use descriptors of ity A description of the quality of pain can often help determine the cause Certain pain descriptors are associated with nonorganic pain syndromes (see Table 1.2):

• Burning pain, hyperpathia (i.e., an exaggerated response to painful stimuli), and allodynia (i.e., pain from stimuli that are normally not painful) suggest a neurological cause

• A change in the description of pain in a patient with a long-standing condition is worth noting, since it may denote the presence of a second condition, e.g., a fracture or septic arthritis in a patient with established RA

• Repeated, embellished, or elaborate description (i.e., “catastrophizing”) may suggest nonorganic pain, but be aware that such a presentation may be cultural

Table 1.1 Clinical pointers in conditions where pain is poorly

localized

Diagnosis Clinical pointer

diffuse

Table 1.2 Terms from the McGill pain scale that help distinguish

between organic and nonorganic pain syndromes

Changes in pain on examination

Eliciting changes in pain by the use of different examination techniques may be used to provide clues to the diagnosis:

• Palpation and comparison of active and passive range of motion can be used to reproduce pain and localize pathology This requires practice and a good knowledge of anatomy

• Many of the classic physical exam signs and maneuvers have a high degree of interobserver variability Interpretation should take into account the context in which the examination is done and the effects

of suggestibility

• Palpation and passive range of motion exercises are performed while the patient is relaxed The concept of passive movement is the assumption that when the patient is completely relaxed, the muscles and tendons around the joint are removed as potential sources of pain; in theory, passive range of motion is limited only by pain at the true joint This assumption has its own limitations, however, especially since passive movements of the joint will still cause some movement

of the soft tissues In some cases, e.g., shoulder rotator cuff disease, the joint may be painful to move passively because of subluxation or impingement due to a musculotendinous lesion

• The clinician should be aware of myofascial pain when palpating musculotendinous structures, especially around the neck and shoulder regions Myofascial pain is said to occur when there is activation of a trigger point that elicits pain in a zone stereotypical for the individual muscle It is often aching in nature

• Trigger points are associated with palpable, tender bands of skeletal muscle that are hyperirritable Trigger points are tender to palpation, and pressure may induce a stereotyped pattern of referred pain This

is different from the tender points characteristic of fi bromyalgia, which tend to be present symmetrically throughout the body and do not induce referred pain

• Local anesthetic infi ltration at the site of a painful structure is sometimes used to help localize pathology, e.g., injection under the acromion may provide substantial relief from a “shoulder impingement syndrome.” However, the technique is reliable only if localization

of the injected anesthetic can be guaranteed Few, if any, rigorously controlled trials have shown it to give specifi c results for any condition

• Turning the examination into a form of play may put the child at ease and assist with the examination For example, asking the child to imitate your own movements may help you gauge range of motion

• The trappings of a clinic setting may make young children nervous, and removing a white coat or stethoscope from sight may also help place the patient at ease

5 4

3 2

1

0

Fig 1.1 Pain assessment in children—the faces rating scale

Regional musculoskeletal conditions: making a

Symptoms in the hand 46

Upper limb peripheral nerve lesions 58

Thoracic back and chest pain 64

Low back pain and disorders in adults 70

Spinal disorders in children and adolescents 84

Pelvic, groin, and thigh pain 92

Knee pain 104

Lower leg and foot disorders (adults) 118

Child and adolescent foot disorders 132

Corticosteroid injection therapy 142

Principles of rehabilitation 146

Chapter 2