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…
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,…
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 (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…
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…
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…
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…
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…
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…
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…