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Hemochromatosis

Hemochromatosis was first described by French physician Armand Trousseau in 1865. The major finding was the presence of a triad associating cirrhosis and diabetes in a tanned man. Von Recklinghausen reported, in 1889, the presence of strong iron deposits within the liver of those patients, therefore leading him to evoke the role of iron excess in the disease occurrence. He named the disease haemochromatosis. Etiology and…

Idiopathic Inflammatory Myopathy

Introduction Etiology The idiopathic inflammatory myopathies (IIMs) include polymyositis (PM), dermatomyositis (DM), and sporadic inclusion body myositis (sIBM). The IIMs are thought to be systemic autoimmune disorders, although a specific autoantigen has not been identified. DM is a complement mediated microangiopathy that is also mediated by plasmacytoid dendritic cells, whereas PM and sIBM are T cell–mediated disorders. Autoantibodies are often present in DM and polymyositis (PM)…

Juvenile Idiopathic Arthritis

Etiology Juvenile idiopathic arthritis (JIA) represents a heterogeneous group of autoimmune disorders that begin in childhood and involve persistent inflammation of one or more joints. Juvenile idiopathic arthritis is an umbrella term for all chronic childhood arthropathies and can be classified into seven subtypes on the basis of features present in the first 6 months of disease. The subtypes include the following: 1. Systemic onset JIA—Patients…

Mixed Connective Tissue Disease

Etiology, Epidemiology, and Prevalence The distinctiveness of the connective tissue diseases is less pronounced than the classification system implies. In practice, there is a continuous spectrum of symptom combinations, merging features of various entities. Mixed connective tissue disease (MCTD) is the prototype of an overlap syndrome, combining features of systemic lupus erythematosus (SLE), systemic scleroderma (SSc), polymyositis (PM), and rheumatoid arthritis (RA). As described by Sharp…

Systemic Lupus Erythematosus

Etiology Despite the explosion of molecular genetic research in the past decades, the etiology of this prototype autoimmune disease is still elusive. A confusing complexity of serologic, immunopathologic, and genetic phenomena has been described, most of which are likely to be secondary effects. The current main hypothesis for the initiation of autoimmune response proposes a defect in the clearance of apoptotic cells (cells undergoing programmed cell…

Progressive Scleroderma

Etiology Progressive scleroderma (also known as progressive systemic sclerosis [PSS] ) is one of the collagen vascular diseases, which makes it one of the systemic autoimmune disorders. Collagen vascular diseases include the following: PSS (progressive scleroderma) Systemic lupus erythematosus Polymyositis and dermatomyositis Sjögren syndrome Jo-1 syndrome Mixed connective tissue disease (Sharp's syndrome) Undifferentiated inflammatory systemic connective tissue disease Relapsing polychondritis These diseases have in common a…

Ankylosing Spondylitis

Clinical Presentation Ankylosing spondylitis (AS) is the prototype of the seronegative spondyloarthropathies, a moderately heterogeneous group of distinct entities composed of AS, psoriatic spondyloarthropathy, reactive spondyloarthropathy (Reiter syndrome), enteropathic spondyloarthropathy in Crohn disease and ulcerative colitis, and so-called undifferentiated spondyloarthropathy. As such, it shares several characteristics with the latter diseases: the genetic background (HLA-B27), the promotion by genitourinary or gastrointestinal bacterial infection and its subsequent or…

Reactive Arthritis

Reactive arthritis is a postinfectious seronegative spondyloarthropathy (SNSA) syndrome characterized by a spectrum of specific musculoskeletal and extra-articular manifestations. The syndrome occurs after infection with specific organisms in two major settings: diarrheal illness and urogenital infection. The majority of patients have an underlying predisposing factor, either the presence of the human leukocyte antigen (HLA)-B27 or infection with the human immunodeficiency virus (HIV). Onset of symptoms is…

Psoriatic Arthritis and Psoriatic Spondyloarthropathy

Psoriatic arthritis (synonym: psoriatic osteoarthropathy) is an autoimmune response disorder that belongs to the seronegative spondarthropathies. It is strongly associated with dermatologic psoriasis. Psoriatic spondylarthropathy (synonym: psoriatic spondyloarthritis) refers to the involvement of the axial skeleton in patients who suffer from psoriatic arthritis. A special feature of psoriasis is pustulosis palmoplantaris (PPP) that may be associated with destructive and proliferative changes at the anterior chest wall…

Rheumatoid Arthritis

Rheumatoid arthritis (RA) is a chronic and progressive inflammatory systemic disease that primarily affects the synovium and is characterized by destruction of bone and cartilage. The small joints of the hands and feet are typically affected, although the larger joints can also be affected by the disease. Radiographic changes, characterized by joint space narrowing and marginal erosions, typically occur within the first 2 years of the…

Degenerative Disease : Physiology and Advanced Imaging

Degeneration and loss of joint function are common end points for many arthropathies, the most prevalent of which is osteoarthritis (OA). Until the late twentieth century, OA was regarded as a mechanical disease, with damage to the articular surface resulting from the inevitable wear and tear of daily living. More recently, the Osteoarthritis Research Society International has defined OA as a progressive disease of the synovial…

Aging

What is Aging? The processes and inevitability of aging are as certain as death and paying taxes. In the past 5 years, the population of the world has grown by approximately 1.7% per year. On the other hand, the number of elderly people has increased by 2.7% per year. In the developing world, the number of people older than age 65 years will increase by 200%…

Degenerative Disorders of the Spine

Etiology Degeneration of the spine is universal and involves structural changes in the disk, bone, ligaments, and articular cartilage of the facet joints. Despite the high prevalence of degeneration, the underlying etiology is still only partially understood. There is, however, an interrelationship of the different components of the spine in that changes in one component, such as the disk, will have an effect on another, such…

Complex Regional Pain Syndrome

Complex regional pain syndrome (CRPS), formerly referred to as reflex sympathetic dystrophy (RSD) or causalgia, is a complex clinical entity. Most authors consider it a neuropathic pain disorder with some autonomic features and without a single pathognomonic test or marker. Nevertheless, the definition of neuropathic pain has been questioned lately because there are many mechanisms proposed for this disease, as we explain in this chapter. CRPS…

Muscle Injury and Sequelae

Prevalence, Epidemiology, and Definitions Injury of muscle, whether contusion, laceration, or strain, is one of the most frequently encountered injuries in athletes. Strain injury accounts for 90% of sports injuries of muscle and may result in significant disability. Muscle injuries are not limited to athletes, however, and the interpreting radiologist must be comfortable with recognizing their radiologic presentation. Normal muscle activity relies on innervation and perfusion;…

Complications of Osseous Trauma

There are many complications of skeletal trauma, although in most cases fracture healing is uncomplicated. Complications can result from direct trauma to bone and soft tissue or from the treatment of the fractures. Complications may be systemic or local and involve the bones or the adjacent soft tissues and joints. In this chapter an overview is presented of the various complications in which radiology plays a…

Radiation Effects in the Musculoskeletal System

History and Radiation Sources Since the discovery of X-rays by Wilhelm Conrad Roentgen in 1895 and the discovery of radioactivity by Henri Becquerel in 1896, many medical uses of radiation have been developed, both diagnostic and therapeutic. Patients can be exposed to radiation by external or internal sources. External radiation sources include imaging exams like conventional radiography, computed tomography and fluoroscopy, as well as external radiation…

Stress Injury

Prevalence, Epidemiology, and Definitions Stress injuries are a common cause of pain and morbidity and have become commonplace among the members of our increasingly active society. There is some confusion regarding the numerous terms used to describe these injuries, and the clinical diagnosis of stress fractures can be difficult: Symptoms are often vague, and soft tissue injuries may mimic bony abnormalities. Stress injuries represent a wide…

Skeletal Manifestations of Pediatric Nonaccidental Injury

Prevalence, Epidemiology, and Definitions Nonaccidental injury (NAI; child abuse) is a widespread social problem of special concern to pediatricians. It is present worldwide but has different manifestations in differing cultures with increased awareness in Western societies. The presentation varies from neglect, thermal injury, sexual abuse, bruising to physical neurocranial and skeletal injury. The true prevalence is hard to obtain because it frequently occurs behind closed doors,…

Upper Extremity Injuries in Children

Prevalence, Epidemiology, and Definitions Patterns of injury in children are different from those of adults, partly because of the unique structure of the pediatric skeleton. Injuries of the upper extremity account for 65% of all fractures and dislocations in children and often are the result of a fall on an outstretched hand. The distal radius, the supracondylar elbow, and the clavicle are among the most common…