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Vasculitis and Its Classification

The term vasculitis indicates the presence of inflammation in a blood vessel wall. The inflammatory infiltrate may be one that is predominantly neutrophilic, eosinophilic, or mononuclear. Perivasculitis describes inflammation around the blood vessel wall but without mural involvement. Vasculopathy, a broader term, indicates an abnormality of blood vessels that may be inflammatory or degenerative or may result from intimal proliferation. Vessel Structure and Function Blood vessels…

Inflammatory Central Nervous System Disorders

Acknowledgements The authors wish to express their gratitude to Drs. Adam Kirton and Susanne Benseler who authored the previously published version of this chapter. Approach to Inflammatory Brain Disorders Inflammatory disorders of the central nervous system encompass an array of acquired diseases characterized by relapsing or progressive clinical deficits and by neuroimaging features suggestive of focal inflammatory lesions. Lesions may involve the white matter predominantly (multiple…

Raynaud Phenomenon and Vasomotor Syndromes

Introduction Episodic color changes of the hands and feet in response to cold or stress, known as Raynaud phenomenon (RP), are a frequent complaint among patients presenting to pediatric rheumatology clinics. The first description of vasomotor instability triggered by cold exposure, or “local asphyxia of the extremities,” is ascribed to A.G. Maurice Raynaud, a French medical student whose name has become synonymous with this disorder. Despite…

Sjögren Syndrome and Immunoglobulin-G4 Disease

SjÖgren Syndrome The syndrome of chronic inflammation of the exocrine glands, principally the salivary and lacrimal glands, was first described by Henrik Sjögren, a Swedish ophthalmologist, who published in 1930 the first complete description of a disorder he named keratoconjunctivitis sicca. He reported that the disorder occurred most often in menopausal women and that arthritis was a prominent feature of the disease, as was a raised…

Localized Scleroderma and Eosinophilic Fasciitis

Scleroderma refers to hard skin that results from an excessive deposition of collagen. In the localized form (localized scleroderma [LS], also called morphea ), inflammation in the skin and subcutaneous tissues triggers the process of fibrosis. LS and the systemic form, systemic sclerosis (SSc), are chronic diseases that share some pathophysiological pathways but differ greatly in their clinical features and morbidities. LS is usually unilateral, less…

Juvenile Systemic Sclerosis

Introduction The scleroderma disorders in children encompass both systemic sclerosis (SSc) and localized scleroderma (LS), also termed morphea . Juvenile systemic sclerosis (JSSc) is much less common than juvenile localized scleroderma (JLS) and comprises less than 10% of all SSc cases. , Both share the general histopathologic features of an initial inflammatory state, followed by collagen deposition and atrophy of the skin and underlying connective tissue.…

Juvenile Dermatomyositis and Other Inflammatory Muscle Diseases

Idiopathic inflammatory myopathies (IIM) are a heterogenous group of diseases characterized by muscle weakness (which is often more pronounced proximally) and inflammatory changes in skeletal muscle. IIM comprise different subtypes: dermatomyositis, polymyositis, inclusion body myositis, and amyopathic dermatomyositis. Juvenile dermatomyositis (JDM) accounts for 80% of all children with IIM. It typically affects skin and muscle; however, disease manifestations are variable and can involve other organ systems.…

Neonatal Lupus Erythematosus

Neonatal lupus erythematosus (NLE) is a disease of the developing fetus and neonate defined by characteristic clinical features in the presence of specific maternal autoantibodies. The first reported case of congenital heart block (CHB) associated with maternal autoimmune disease (i.e., Mikulicz syndrome or likely Sjögren syndrome [SS]) was published in 1901. However, it was not until the 1950s that it was generally recognized that autoantibodies in…

Antiphospholipid Syndrome

Antiphospholipid syndrome (APS) is an autoimmune multisystem disease primarily manifested as intravascular thrombosis and mediated by antiphospholipid antibodies (APLA). APS may occur as an isolated clinical entity (primary APS) or in association with other autoimmune diseases (secondary APS), particularly systemic lupus erythematosus (SLE). It occasionally occurs with infections and malignancies as well. Rarely, patients develop catastrophic antiphospholipid syndrome (CAPS), a life- and organ-threatening condition in which…

Systemic Lupus Erythematosus, Mixed Connective Tissue Disease, and Undifferentiated Connective Tissue Disease

Systemic Lupus Erythematosus Systemic lupus erythematosus (SLE) is the prototypic systemic autoimmune disease. It is characterized by multiple autoantibodies associated with a multisystem illness where any organ can be targeted. Autoantibodies most commonly associated with SLE are antinuclear antibodies (ANAs) and anti–double-stranded (native) DNA (anti-dsDNA). The presentation, disease course, and outcome of SLE are unpredictable. Patients often experience disease flares and more rarely remissions. Childhood-onset SLE…

Uveitis in Juvenile Idiopathic Arthritis

Inflammatory eye diseases comprise some of the most devastating complications of childhood rheumatic diseases, especially juvenile idiopathic arthritis (JIA). Chronic (initially asymptomatic) uveitis accompanying JIA is one of the most common causes of uveitis in childhood. It is predominantly anterior, nongranulomatous inflammation affecting the iris and ciliary body (iridocyclitis) of insidious onset ( Fig. 22.1 ). Acute (symptomatic) anterior uveitis is characteristic of human leukocyte antigen-B27…

Psoriatic Juvenile Idiopathic Arthritis

The association of arthritis with psoriasis was described almost 200 years ago, but it was not reported in children until the 1950s. Psoriatic juvenile idiopathic arthritis (PsJIA) is a heterogeneous entity, recognized in patients with frank psoriasis but also where a psoriatic diathesis is suspected on other grounds. The diagnosis captures certain characteristic phenotypic features of this condition, although clinical overlap with other subtypes of juvenile…

Enthesitis-Related Arthritis

Definition and Classification Under the International League of Associations for Rheumatology (ILAR) classification of juvenile idiopathic arthritis (JIA), , enthesitis-related arthritis (ERA) is defined according to the inclusion and exclusion criteria shown in Table 20.1 . Children with ERA have inflammation predominantly affecting joints and entheses of the lower extremities, which may also eventually affect the sacroiliac (SI) joints and spine. It is characterized by a…

Oligoarticular Juvenile Idiopathic Arthritis

Definition Oligoarticular juvenile idiopathic arthritis (JIA) is defined as a chronic inflammatory arthritis of unknown origin with onset prior to the age of 16 years that persists for at least 6 weeks ( Box 19.1 ). It is further characterized as persistent (if no more than four joints are affected during the disease course) or extended (if, after the initial 6-month period, the total number of…

Polyarticular Juvenile Idiopathic Arthritis

Definitions Chronic childhood arthritis affecting five joints or more during the first 6 months of disease is defined as polyarthritis . , The International League of Associations for Rheumatology (ILAR) classification system for juvenile idiopathic arthritis (JIA) further categorizes polyarthritis as rheumatoid factor (RF)-negative if tests for RF are negative, and RF-positive if RF is detected on two occasions at least 3 months apart ( Table…

Systemic Juvenile Idiopathic Arthritis

Systemic juvenile idiopathic arthritis (sJIA) is one of the most perplexing diseases of childhood. Its onset can be quite nonspecific and may suggest bacterial or viral infection, malignancy, or another inflammatory disease. The evolution of the disease eventually confirms the diagnosis, which currently is still made on an entirely clinical basis. It is unique among the chronic arthritides of childhood, particularly in the range and severity…

Juvenile Idiopathic Arthritis: Classification and Basic Concepts

Historical Aspects Pediatric rheumatology, the study and treatment of acute and chronic diseases of the musculoskeletal system, blood vessels, and other tissues, originated in the first half of the 20th century, principally as a study of chronic inflammatory arthritis, the most common of the childhood rheumatic diseases. Archaeological evidence supports the existence of chronic arthritis in children dating back to 900 AD. , Thomas Phaire in…

Nonmedical Therapies in Pediatric Rheumatic Diseases

Acknowledgements Gay Kuchta, OT, is acknowledged for her contributions in the previous editions that provided a sound basis for this revised chapter. Machteld Huber, MD, PhD, is acknowledged for sharing her expertise on the My Positive Health model. Over the last decades, great advances have been made in the medical management of the pediatric rheumatic diseases. Despite this, children with rheumatic disease report a poorer health-related…

Therapeutics: Biologics and Small Molecules

Biologics or biological disease-modifying antirheumatic drugs (DMARDs) are different from nonbiologic or synthetic DMARDs in that they are produced by biological processes rather than chemical syntheses. Biological DMARDs target specific, well-defined molecules expressed on cells or secreted into the extracellular space. , The terms nonbiologic , synthetic , or conventional are used to identify the agents discussed in Chapter 13 . This chapter focuses on the…

Therapeutics: Nonbiologics

The principal drugs used in pediatric rheumatology are drugs that suppress the inflammatory and immune responses. This chapter outlines important general principles relating to the nonbiological therapies, particularly as they apply to children. The treatment of specific rheumatic disorders is discussed in detail in the relevant chapters. Concepts in Pharmacology Optimizing the efficacy and safety of medications used to treat rheumatic disorders in children requires an…