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Miscellaneous Conditions Associated With Arthritis

Relapsing Polychondritis Relapsing polychondritis (RP) is a rare condition characterized by episodic chondritis causing cartilage destruction and deformation of the ears (sparing the earlobes), nose, larynx, and tracheobronchial tree. Antibodies to matrillin-1 and collagen (type II, IX and XI) are present in approximately 60% of patients with RP, suggesting an autoimmune pathogenesis. Patients may experience arthritis, uveitis, and hearing loss resulting from inflammation near the auditory…

Musculoskeletal Pain Syndromes

Musculoskeletal pain is a frequent complaint of children presenting to general pediatricians and is the most common presenting problem of children referred to pediatric rheumatology clinics. Prevalence estimates of persistent musculoskeletal pain in community samples range from 10–30%. Although diseases such as juvenile idiopathic arthritis (JIA) and systemic lupus erythematosus (SLE) may manifest as persistent musculoskeletal pain, the majority of musculoskeletal pain complaints in children are…

Vasculitis Syndromes

Childhood vasculitis encompasses a broad spectrum of diseases that share inflammation of the blood vessels as the central pathophysiology. The pathogenesis of the vasculitides is generally idiopathic. Some forms of vasculitis are associated with infectious agents and medications, whereas others may occur in the setting of preexisting autoimmune disease. The pattern of vessel injury provides insight into the form of vasculitis and serves as a framework…

Kawasaki Disease

Kawasaki disease (KD), formerly known as mucocutaneous lymph node syndrome and infantile polyarteritis nodosa , is an acute febrile illness of childhood seen worldwide, with the highest incidence occurring in Asian children. KD is a systemic inflammatory disorder manifesting as a vasculitis with a predilection for the coronary arteries. Approximately 20–25% of untreated children develop coronary artery abnormalities (CAA) including aneurysms, whereas <5% of children treated…

Sarcoidosis

Sarcoidosis is a rare multisystem granulomatous disease of unknown etiology. The name is derived from a Greek word meaning “flesh-like condition,” in reference to the characteristic skin lesions. There appear to be 2 distinct, age-dependent patterns of disease among children with sarcoidosis. The clinical features in older children are similar to those in adults (pediatric-onset adult sarcoidosis), with frequent systemic features (fever, weight loss, malaise), pulmonary…

Amyloidosis

Amyloidosis comprises a group of diseases characterized by extracellular deposition of insoluble, fibrous amyloid proteins in various body tissues. Etiology Amyloidosis is a disease caused by protein misfolding. These misfolded proteins infiltrate, aggregate, and form insoluble fibrils that can affect the normal function of a number of vital organs. In the amyloidosis nomenclature, a distinction is made between amyloidosis that develops from mutations in the amyloid…

Hereditary Periodic Fever Syndromes and Other Systemic Autoinflammatory Diseases

The hereditary periodic fever syndromes are a group of monogenic diseases that present with recurrent bouts of fever and associated pleural and/or peritoneal inflammation, arthritis, and various types of skin rash. A number of identifiable disorders present with recurrent episodes of inflammation, although fevers may not be common feature. Therefore the term systemic autoinflammatory diseases is used to include all diseases that present with seemingly unprovoked…

Sjögren Syndrome

Sjögren syndrome is a chronic, inflammatory, autoimmune disease characterized by progressive lymphocytic and plasma cell infiltration of the exocrine glands, especially salivary and lacrimal, with potential for systemic manifestations. It is rare in children and predominantly affects middle-age women with classic symptoms of dry eyes ( keratoconjunctivitis sicca ) and dry mouth ( xerostomia ). Epidemiology Sjögren syndrome typically manifests at 35-45 yr of age, with 90%…

Behçet Disease

Behçet disease (BD) is classified as a primary variable vessel vasculitis , emphasizing the involvement of any size and type (arterial, venous) of blood vessel. BD is also recognized as an autoinflammatory disease. Originally described with recurrent oral ulcerations, uveitis, and skin abnormalities, the BD spectrum is much broader. Epidemiology Behçet disease has a high prevalence in countries along the Silk Road, extending from Japan to…

Scleroderma and Raynaud Phenomenon

Juvenile scleroderma encompasses a range of conditions unified by the presence of fibrosis of the skin. Juvenile scleroderma is divided into 2 major categories, juvenile localized scleroderma ( JLS , also known as morphea ), which is largely limited to the skin, and juvenile systemic sclerosis ( JSSc ), with multisystem organ involvement. Localized disease is the predominant type seen in pediatric populations (>95%), but systemic…

Juvenile Dermatomyositis

Juvenile dermatomyositis (JDM) is the most common inflammatory myositis in children, distinguished by proximal muscle weakness and a characteristic rash. Inflammatory cell infiltrates result in vascular inflammation, the underlying pathology in this disorder. Etiology Evidence suggests that the etiology of JDM is multifactorial, based on genetic predisposition and an unknown environmental trigger. Human leukocyte antigen (HLA) alleles such as B8, DRB1*0301, DQA1*0501, and DQA1*0301 are associated…

Systemic Lupus Erythematosus

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by multisystem inflammation and the presence of circulating autoantibodies directed against self-antigens. SLE occurs in both children and adults, disproportionately affecting females of reproductive age. Although nearly every organ may be affected, most frequently involved are the skin, joints, kidneys, blood-forming cells, blood vessels, and central nervous system. Systemic signs of inflammation such as fever and…

Reactive and Postinfectious Arthritis

In addition to causing arthritis by means of direct microbial infection (i.e., septic arthritis; see Chapter 705 ), microbes activate innate and adaptive immune responses, which can lead to the generation and deposition of immune complexes as well as antibody or T cell–mediated cross-reactivity with self. In addition, microbes may influence the immune system in ways that promote immune-mediated inflammatory diseases such as systemic lupus erythematosus…

Ankylosing Spondylitis and Other Spondyloarthritides

The diseases collectively referred to as spondyloarthritides include ankylosing spondylitis (AS) , arthritis associated with inflammatory bowel disease (IBD) or psoriasis, and reactive arthritis following gastrointestinal (GI) or genitourinary (GU) infections ( Table 181.1 and Table 181.2 ). Spondyloarthritis is more common in adults, but all forms can present during childhood with varying symptoms and signs. Many children with spondyloarthritis are classified in the juvenile idiopathic…

Juvenile Idiopathic Arthritis

Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in children and one of the more common chronic illnesses of childhood. JIA represents a heterogeneous group of disorders sharing the clinical manifestation of arthritis. The etiology and pathogenesis of JIA are largely unknown, and the genetic component is complex, making clear distinction among various subtypes difficult. As a result, several classification schemes exist, each with…

Treatment of Rheumatic Diseases

Nonpharmacologic as well as pharmacologic interventions are often necessary to meet the desired goals of disease management. Optimal disease management requires family-centered care delivered by a multidisciplinary team of healthcare professionals providing medical, psychological, social, and school support. Rheumatologic conditions most often follow a course marked by flares and periods of remission, although some children have unremitting disease. The goals of treatment are to control disease,…

Evaluation of Suspected Rheumatic Disease

Rheumatic diseases are defined by the constellation of results of the physical examination, autoimmune marker and other serologic tests, tissue pathology, and imaging. Defined diagnostic criteria exist for most rheumatic diseases. Recognition of clinical patterns remains essential for diagnosis because there is no single diagnostic test, and results may be positive in the absence of disease. Further complicating the diagnosis, children sometimes present with partial criteria…

Adverse Reactions to Drugs

Adverse drug reactions can be divided into predictable (type A) and unpredictable (type B) reactions. Predictable drug reactions , including drug toxicity, drug interactions, and adverse effects, are dose dependent, can be related to known pharmacologic actions of the drug, and occur in patients without any unique susceptibility. Unpredictable drug reactions are dose independent, often are not related to the pharmacologic actions of the drug, and…

Food Allergy and Adverse Reactions to Foods

Adverse reactions to foods consist of any untoward reaction following the ingestion of a food or food additive and are classically divided into food intolerances (e.g., lactose intolerance ), which are adverse physiologic responses, and food allergies, which are adverse immunologic responses and can be IgE mediated or non–IgE mediated ( Tables 176.1 and 176.2 ). As with other atopic disorders, food allergies appear to have…

Serum Sickness

Serum sickness is a systemic, immune complex–mediated hypersensitivity vasculitis classically attributed to the therapeutic administration of foreign serum proteins or other medications ( Table 175.1 ). Table 175.1 From Aceves SS: Serum sickness. In Burg FD, Ingelfinger JR, Polin RA, Gershon AA, editors: Current pediatric therapy , ed 18, Philadelphia, 2006, Elsevier, p 1138. Proteins and Medications That Cause Serum Sickness * * Based on review…