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The Patient with a Tumor or a Tumor-Like Lesion of Bone

Tumors are typically detected on radiographs. A tumor is a space-occupying lesion. It may be neoplastic or non-neoplastic. The non-neoplastic tumor is also referred to as a tumor-like lesion. The group of tumor-like lesions is very heterogeneous and contains normal variants, fibrous dysplasia, osteomyelitis, posttraumatic changes, and so on. The tumor or tumor-like lesion may be detected easily, with difficulty, or even not at all, depending…

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 musculoskeletal disorder. The scope of drug-related disorders with radiographic abnormalities involving the musculoskeletal system is reviewed in this chapter. Corticosteroids The spectrum of bone and joint…

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 sclerosis can manifest in a wide variety of clinical, pathologic, and radiologic features, including the presence of hamartomas (benign neoplasms composed of cellular elements normally present…

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 and often difficult to predict at presentation. Prevalence and Epidemiology Epidemiologic characterization of sarcoidosis is problematic owing to variability in disease course, ascertainment bias, and lack…

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 pachydermoperiostosis, idiopathic hypertrophic osteoarthropathy, or Touraine-Solente-Gole syndrome, is a familial disorder with autosomal dominant transmission and variable degrees of expression. The secondary form of hypertrophic osteoarthropathy…

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, New Zealand, and North America. Nowadays the epidemiology has remarkably changed. Prevalence of PD in Great Britain in 1970 was 5.4% in people aged 55 years…

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 occur sporadically, representing de novo mutations. Clinical Presentation MFS is a disorder of connective tissue, involving the cardiovascular, ocular, and skeletal systems, as well as the…

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 manifestations may be seen, ranging from perinatal death to premature osteoporosis presenting in middle-aged adults. Important secondary clinical features are growth impairment resulting in a rhizomelic…

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 syndromes and are generally divided into lipidoses, glycogenoses, and mucopolysaccharidoses (MPS). Most of these disorders are severely debilitating and lead to premature death. The focus of…

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 of the enzyme β-glucosidase. This deficiency results in the accumulation of glucosylceramide, a cell membrane metabolite, in lysosomes of cells of the monocyte/macrophage lineage. Prevalence and…

Pituitary and Thyroid Disorders

Acromegaly and Pituitary Gigantism Etiology Acromegaly and pituitary gigantism are conditions resulting from hypersecretion of the growth hormone (GH) from the pituitary gland. The onset of GH hypersecretion in adults after the growth plates have fused results in acromegaly. The onset of GH hypersecretion in children and adolescents before fusion of the growth plates results in pituitary gigantism. The most common cause of GH hypersecretion is…

Amyloidosis

Etiology Amyloidosis comprises a heterogeneous group of diseases in which otherwise normal proteins acquire alternative misfolded states and form insoluble fibrils termed amyloid fibrils. Subsequently, extracellular deposition of amyloid fibrils into various organs and tissues results in infiltration, swelling, and progressive loss of function of the affected organ. It was the description of the autopsy of a young man back in 1639 by a Dutch physician,…

Hyperparathyroidism, Renal Osteodystrophy, Osteomalacia, and Rickets

Hyperparathyroidism Etiology A review of more than 20,000 cases of primary hyperparathyroidism found that, in 89% of patients, the cause was a solitary adenoma in the parathyroid gland and that 10% had multiglandular hyperplasia. Parathyroid carcinoma and cysts causing primary hyperparathyroidism are very unusual, occurring in less than 1% of cases. Prevalence and Epidemiology In the United States, primary hyperparathyroidism is said to affect 10 to…

Osteoporosis

Metabolic disorders of the skeleton affect bone as a tissue, so that all bones are involved histologically, although radiologic features are not always evident. Such diseases can be caused by genetic, endocrine, nutritional, or biochemical disorders. Osteoporosis is the most common metabolic bone disease. It is a quantitative abnormality of bone (“too little bone”), in contrast to rickets and osteomalacia, which are qualitative abnormalities of bone…

Myelofibrosis

Etiology Myelofibrosis is a chronic myeloproliferative disorder characterized by bone marrow fibrosis and the development of extramedullary hematopoiesis. Myelofibrosis can occur as a primary disease entity (also termed idiopathic myelofibrosis or agnogenic myeloid metaplasia ) or can occur secondary to diffuse bony metastatic disease, infections (e.g., tuberculosis and fungal infections), sarcoidosis, myeloma, and lymphoma. The etiology of primary myelofibrosis is unknown, but an increased incidence of…

Thalassemia

Etiology In 1925, Cooley and Lee described a series of patients suffering from severe anemia associated with splenomegaly and bone abnormalities. The name thalassemia , after fusion of the Greek words thalassa meaning “sea” and aima meaning “blood,” underlined the Mediterranean origin of the patients who were first described. Thalassemia is not a single disease but rather a group of diseases related to an inherited abnormality…

Sickle Cell Anemia

Etiology Sickle cell anemia, first described in a 20-year-old dental student from Grenada by Herrick in 1910, is the most common single-gene disorder in African Americans. Dr. Linus Pauling and his team identified the cause of SCA as a single substitution in the gene encoding of the β-hemoglobin (Hb) chain (valine substituted for glutamic acid). An individual with two abnormal chromosomes was designated as Hb SS…

Hemophilia and Related Disorders

Etiology Of all causes of hemophilia, types A and B are most associated with intraosseous and intraarticular bleeding. Hemophilia A (classic hemophilia) results from a deficiency of factor VIII. Hemophilia B (Christmas disease) is due to a functional deficiency of plasma thromboplastin component (factor IX). These disorders are both X linked and, therefore, manifest clinically in men but are carried by women. Prevalence and Epidemiology Classic…

Ischemic Bone Lesions

Ischemic bone lesions cover a wide spectrum of conditions with variable clinical and imaging findings in which oxygen delivery to the bone and marrow cells is impaired at least to some degree. Epiphyseal ischemic lesions have been more extensively investigated because of their clinical importance. MRI has definitely contributed to the detection and in-depth knowledge of the natural history of epiphyseal osteonecrosis. Etiology Ischemic bone lesions…

General Principles of MRI of the Bone Marrow

This chapter addresses general concepts on MRI of the bone marrow, with emphasis on common normal and abnormal marrow patterns. MRI plays a key role in marrow imaging because of its high sensitivity for detecting focal or diffuse alterations in marrow content. MRI of the bone marrow is also performed for other purposes, including medullary lesion characterization, disease staging, prognosis, and monitoring of treatment response. MRI…