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Dysplasias

Achondroplasia Achondroplasia belongs to group 1 of the osteochondrodysplasias, as listed in the International Nosology and Classification of Genetic Skeletal Disorders. It is one of the more common skeletal dysplasias, with a prevalence ranging from 1 : 15,000 to 1 : 40,000 live births. The incidence increases with increasing paternal age. It is usually inherited as a sporadic autosomal-dominant (AD) condition. The homozygous state is lethal. Achondroplasia arises from a…

Coalitions

Coalition represents abnormal fusion between two or more bones; it occurs more commonly in the bony tarsus but is also seen in the carpal bones. The condition may be congenital or acquired. Coalitions may be complete or incomplete and are bony (synostosis), cartilaginous (synchondrosis), or fibrous (syndesmosis). Carpal coalition is often an incidental finding, although fused bones are known to be more prone to fracture. On…

Developmental Dysplasia of the Hip

Etiology and Prevalence Congenital dislocation of the hip is a condition that presents in infancy in approximately 1 in 9000 live births. Although childhood presentation of the condition is uncommon, the occult form of developmental dysplasia occurs frequently. This consists of a shallow acetabulum that is potentially unstable, thereby leading to a premature degeneration and osteoarthritis seen in early adult life ( Fig. 102-1 ). There…

Focal Growth Disturbances

Etiology Teratogenic factors due to drugs taken during pregnancy are the best known cause of focal growth disturbances (e.g., thalidomide-associated phocomelia), but sporadic cases of unknown cause are now more frequent. This is due principally to the greater precautions taken in prescribing medications during pregnancy. Sporadic cases with focal growth disturbances may be due to somatic mutations in genes that regulate growth and cell division. The…

Monitoring Therapy in Bone and Soft Tissue Tumors

Pathophysiology The histologic response to neoadjuvant chemotherapy is one of the most important prognostic factors for patients with bone or soft tissue sarcoma who are scheduled for surgical treatment. Patients whose tumors show little necrosis relative to the fraction of viable tumor after neoadjuvant chemotherapy have poorer survival than patients with tumors that have more chemotherapy-induced necrosis. The amount of spontaneous, or non–chemotherapy-induced, necrosis as a…

Staging Bone and Soft Tissue Tumors

Staging encompasses determination of local tumor extent, including skip lesions, and identification or exclusion of distant metastases. Information on local extent and distant spread is a requisite for treatment planning, as discussed in Chapter 98 . Magnetic resonance (MR) is the preferred technique for local staging and should be performed before the lesion is sampled because postbiopsy changes such as hemorrhage can exaggerate the extent of…

Treatment Strategies for Musculoskeletal Tumors and Tumor-Like Lesions

Surgical treatment of a patient with a musculoskeletal tumor is aimed against the disease but often also affects functional ability of the patient for the rest of his or her life. Disability related to treatment can be minimal in small, benign tumors located in the extremities, or it can be devastating after surgical treatment of axial malignant tumors. The outcome is in many ways uncertain. The…

Metastatic Disease

Etiology The formation of osseous metastases follows a complicated series of events that is dependent on the intrinsic properties of the cancerous cells that make up the primary malignancy. The process is regulated by multiple signaling pathways and molecular interactions. An extensive and growing list of factors that all play a role in the homing of cancer cells to the bone marrow niche and their development…

Tumor-like Soft Tissue Lesions

Every radiologist will occasionally be confronted with a mass of nonspecific imaging characteristics. Eventually, many of these lesions turn out to be non-neoplastic. These non-neoplastic masses belong to a large and heterogeneous group often named “pseudotumors.” Soft tissue pseudotumors are a frequent clinical problem and can present at any age, occur in any location, and affect both men and woman. Many of these lesions share a…

Soft Tissue Tumors

In this chapter a pragmatic or analytical approach is presented for the detection, staging, grading, and tissue-specific diagnosis of soft tissue tumors (STTs; Fig. 95-1 ). Because of the large number of types of these tumors, classification in a few relevant categories is important. In the fourth edition of the World Health Organization (WHO) classification of tumors, it is recommended to divide STTs into four categories,…

Tumor-Like Lesions of Bone

There is a large spectrum of bone conditions that can have similar imaging appearances to tumors. These can be broadly classified into two categories. First are the space-occupying lesions in bone that are macroscopic in appearance but non-neoplastic in nature. These include cystic lesions, such as simple bone cyst (SBC) and aneurysmal bone cyst (ABC), fibrous lesions, such as nonossifying fibroma and fibrous dysplasia, as well…

Myeloma

Myeloma typically is a multifocal, or diffuse, disease that is also called Kahler's disease, multiple myeloma, myelomatosis, and plasma cell myeloma. Solitary myeloma (plasmacytoma) is rare and must be differentiated from an early manifestation of what will eventually appear to be multiple myeloma, and from benign plasma cell granuloma. Etiology Myeloma is a clonal B-lymphocyte neoplasm of terminally differentiated plasma cells. The cause of multiple myeloma…

Primary Bone Tumors

Primary bone tumors are rare and, unlike osseous metastases and myeloma, tend to occur in otherwise fit children, adolescents, and young adults. Patients typically present with either pain or swelling that may be initially mild or intermittent but, in time, becomes more severe and nonmechanical, particularly if the tumor is malignant. A pathologic fracture may be the initial presenting feature in a minority of cases, and…

The Patient with a Soft Tissue Lump

When someone notices a soft tissue lump, it is inevitable that he or she will be worried and fearful until it can be identified. The patient may have discovered the lump, or it may have been felt or noticed by a relative. Masses may be incidental findings during a physical examination by a medical practitioner who was performing an evaluation for an unrelated problem. Lumps that…

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…