Musculoskeletal Imaging

Drug-Related Bone and Soft Tissue Disorders

Numerous pharmacologic agents may adversely affect the musculoskeletal system. Radiographic manifestations of these pathologic effects may often be apparent in the advance of clinical symptomatology. Therefore, the radiologist may be the first physician to raise the possibility of a drug-related…

Tuberous Sclerosis

Abstract Tuberous sclerosis (Bourneville syndrome, Bourneville-Pringle syndrome, Bourneville-Brissaud disease, Pringle disease, phakomatosis, epiloia) is a neurocutaneous syndrome that is classically characterized by a clinical triad of epileptic seizures, mental retardation, and adenoma sebaceum (dermal angiofibroma). Despite the classic triad, tuberous…

Sarcoidosis

Etiology Sarcoidosis is a systemic disorder characterized by the accumulation of non-necrotizing granulomas in affected organs, with varying degrees of associated inflammation or fibrosis. Its exact etiology is not known. The pattern of organ involvement and disease progression is variable…

Hypertrophic Osteoarthropathy

Etiology Hypertrophic osteoarthropathy (Pierre Marie–Bamberger syndrome) is characterized by digital clubbing and periosteal proliferation along the long tubular bones. It can be classified as either primary (idiopathic/hereditary) or secondary hypertrophic osteoarthropathy. The primary form of the disease, also known as…

Paget Disease

Epidemiology Skeletal remains indicate that Paget disease (PD) first appeared in western European populations in the Roman period. Historically, the greatest prevalence of PD was in the United Kingdom, and from there it spread to British colonies such as Australia,…

Marfan Syndrome

Etiology Marfan syndrome (MFS) is an autosomal dominant disorder. Prevalence and Epidemiology The incidence in the general population is estimated at 1 in 5000 to 10,000. The majority of patients will have familial incidence, although approximately one third of cases…

Osteogenesis Imperfecta

Osteogenesis imperfecta (OI), also known as brittle bone disease or Lobstein syndrome, is a common heritable disorder of collagen synthesis that results in defective, weak bony matrix, leading to bone fragility with fractures and deformity. A wide range of clinical…

Storage Diseases

Lysosomal storage diseases are a group of inborn errors of metabolic disorders characterized by accumulation of incompletely metabolized substrates inside lysosomes due to deficiency in one of the numerous enzymes required for substrate degradation. They comprise more than 30 different…

Gaucher Disease

Etiology Gaucher disease bears the name of Philippe Gaucher, a French dermatologist who first described the clinical syndrome. Understanding of the condition was greatly enhanced in 1965 when it was recognized that the disease was due to a functional deficiency…