Bone disease, any of the diseases or injuries that affect human bones.

Diseases
and injuries of bones are major causes of abnormalities of the human skeletal
system. Although physical injury, causing fracture, dominates over disease,
fracture is but one of several common causes of bone disease, and disease is in
fact a common cause of fracture. Bone diseases and injuries were formerly
regarded as conditions that were more mechanical than metabolic. An
improved understanding of the dual mechanical and chemical function of
bone, however, has permitted a more integrated biological view.

Osteogenesis imperfecta (OI), also called brittle bone disease, rare

hereditary disease of connective tissue characterized by
brittle bones that fracture easily. OI arises from a genetic defect that causes
abnormal or reduced production of the protein collagen, a major component
of connective tissue. There are four types of OI, which differ in symptoms and
severity.

Rickets, disease of infancy and childhood characterized by softening of

the bones, leading to abnormal bone growth and caused by a lack of vitamin
D in the body. When the disorder occurs in adults, it is known as osteomalacia.

Fracture, in pathology, a break in a bone caused by stress. Certain normal and

pathological conditions may predispose bones to fracture. Children have
relatively weak bones because of incomplete calcification, and older adults,
especially women past menopause, develop osteoporosis, a weakening of
bone concomitant with aging. Pathological conditions involving the skeleton,
most commonly the spread of cancer to bones, may also cause weak bones. In
such cases very minor stresses may produce a fracture. Other factors, such as
general health, nutrition, and heredity, also have effects on the liability of bones
to fracture and their ability to heal.

Osteomyelitis, infection of bone tissue. The condition is most commonly caused

by the infectious organism Staphylococcus aureus, which reaches the bone via
the bloodstream or by extension from a local injury; inflammation follows with
destruction of the cancellous (porous) bone and marrow, loss of blood supply,
and bone death. Living bone grows around the infected area and walls in the
dead tissue, forming an involucrum, the contents of which are gradually
resorbed as the lesion is repaired. Symptoms include fever, chills, and bone pain;
later, swelling and redness may develop around the area of
infection. Diagnosis is confirmed by radionuclide bone scans. The precise cause
of the infection is determined by cultures of the blood and bone. Treatment of
osteomyelitis requires the long-term administration of intravenous antibiotics;
some patients also require surgery to remove dead bone tissue. If the disease is
not treated appropriately, acute osteomyelitis can progress to a chronic
disease. In chronic osteomyelitis, infection remains active, and periodic
drainage to the surface via sinus tracts may occur. Bone damage may be
extensive, possibly requiring amputation of the affected limb.
Osteomyelitis may occur as a complication of many diseases, such
as typhoid, syphilis, tuberculosis, or sickle cell anemia. In the middle-aged, spinal
osteomyelitis may be associated with urinary bladder infection. Intravenous drug
use may also cause osteomyelitis.

Osteosarcoma, also called osteogenic sarcoma, most common bone cancer,

primarily affecting the long bones, particularly those in the knee, hip,
or shoulder regions. The cause of osteosarcoma is unknown, but genetic factors
and radiation therapy may be involved in its development. Osteosarcoma
occurs more often in males than in females; most affected individuals are under
age 30. Major symptoms include pain (intermittent at first, later severe and
constant), swelling, limitation of joint motion, a high frequency of fractures, and
eventually fever and general debilitation. Metastases (seeding of the
malignancy in other parts of the body) occur early and spread particularly to
the lungs. The long-term survival rate, which at one time was quite low, has risen
to well over 50 percent with modern treatment, which includes surgical removal
of the tumour and chemotherapy. Osteosarcoma that occurs after age 50 is
frequently associated with Paget disease of bone; prognosis in this case is still
quite poor.

Hip dysplasia, in dogs, abnormal development of the hip joint on one or both
sides of the body, occurring primarily in medium and large breeds. Its clinical
signs include decreased ability to endure exercise, lameness in the hind limbs,
reluctance to climb stairs, and pain coincident with hip movement. The
abnormality of the hip joint in the affected dog develops after birth, leading to
weakening of the supportive tissue surrounding the hip joint and separation of
the femoral head from the socket (acetabulum) of the pelvis—and later
to degenerative joint disease. No single factor has been associated with the
abnormal development, but growth rate, extent of exercise, nutrition, and
hereditary factors influence the incidence of the disease. Occurrence in the
parents greatly increases the likelihood of occurrence in offspring. Radiography
is helpful in diagnosis. Medical and surgical treatments have been used with
variable success. The treatments are not curative, but they may greatly relieve
the dog’s discomfort and slow progression of the disease.

Metabolic bone disease, any of several diseases that cause various

abnormalities or deformities of bone. Examples of metabolic bone diseases
include osteoporosis, rickets, osteomalacia, osteogenesis imperfecta, marble
bone disease (osteopetrosis), Paget disease of bone, and fibrous dysplasia. In
clinical terms, metabolic bone diseases may result in bone pain and loss of
height (due to compression of vertebrae), and they predispose patients
to fractures.

Osteoporosis, disease characterized by the thinning of bones, with a

consequent tendency to sustain fractures from minor stresses. Osteoporosis is the
most common metabolic bone disease, and its name literally means “porous
bone.” The disorder is most common in postmenopausal women over age 50. It
is estimated that approximately one-fourth of the world’s population of women
over age 60 have some degree of osteoporosis. For these women, fracture is a
leading cause of morbidity and mortality.

Achondroplasia, also called chondrodystrophia fetalis, genetic disorder

characterized by an abnormality in the conversion of cartilage into bone. As a
consequence, bones that depend on cartilage models for development,
particularly long bones such as the femur and humerus, cannot grow.
Achondroplasia is the most common cause of dwarfism. In those afflicted with
the disorder, the limbs are very short (fingers reach only to the hips), but the trunk
is almost normal in size. The head is enlarged because of some overgrowth of
the vault bones following premature closure of sutures at the base of the skull.
Other manifestations of achrondoplasia include a bulging forehead, saddle
nose, protruding jaw, deeply incurved lower back with prominent buttocks, and
a narrow chest; women with the disorder may have narrow pelvises and,
subsequently, difficulty in childbirth. Achondroplasia is inherited as an autosomal
dominant trait; about 80 percent of cases of the disorder result from new
genetic mutations rather than from the parental transmission of defective genes.
Affected individuals are of normal intelligence and have otherwise
normal health.
Neurofibromatosis, either of two hereditary disorders characterized by distinctive
skin lesions and by benign, progressively enlarging tumours of the nervous
system. Neurofibromatosis type 1, also known as von Recklinghausen’s disease, is
much the more common of the two disorders and is present in about one of
every 3,000 live births. This type is characterized by the presence of café-au-lait
(pale brown) spots on the skin and the formation of numerous benign soft
tumours arising from the abnormal growth of nerves. The café-au-lait spots may
be present at birth or infancy, and the neurofibromas and other tumours appear
in late childhood or early adulthood; the latter can sometimes result in grossly
disfiguring effects owing to their large size. The course of the disease is
progressive in most cases. Neurofibromatosis type 2 is a much rarer inherited
disease marked by tumours of the auditory canal in the ear and by small
numbers of café-au-lait spots.
Neurofibromatosis 1 is passed on as an autosomal dominant trait, and the child
of someone with the disease has a 50-percent chance of developing it. About
half of all cases of the disorder, however, result from genetic
mutation at conception rather than from familial inheritance. In 1990 scientists
identified a gene on human chromosome 17 that is responsible for
neurofibromatosis type 1; a defective version of this gene allows nerve cells to
grow without restraint, resulting in neurofibromas.

Osteomalacia, condition in which the bones of an adult progressively soften

because of inadequate mineralization of the bone. (In children the condition is
called rickets.) Osteomalacia may occur after several pregnancies or in old
age, resulting in increased susceptibility to fractures. Symptoms include bone
pain, weakness, numbness of the extremities, and spasms of the hands or feet.
Depletion of the bone minerals may be caused by lack of dietary vitamin D (or
its precursor, ergosterol), inadequate exposure to sunlight (necessary for the
formation of vitamin D in the body), impaired function of one of the organs
involved in the absorption or metabolism of the bone minerals or vitamin D,
frequent ingestion of mineral oil (in which vitamin D dissolves but is not absorbed
from the intestines), or abnormalities in the bone mineralization process.
Individuals with osteomalacia frequently have multiple nutrient deficiencies.
Treatment includes a well-balanced diet high in protein and calcium and
supplemented in moderation with vitamin D concentrates or fish-liver oils.

Paget disease of bone, also called osteitis deformans, chronic disease of middle
age, characterized by excessive breakdown and formation of bone tissue. It is a
localized disease that may be unifocal, affecting a single bone, or multifocal,
affecting many bones or nearly the entire skeleton. For this reason, it is included
among the metabolic bone diseases. The disease is named for the English
surgeon and pathologist Sir James Paget, who first described it.

Ewing tumour of bone, also called Ewing sarcoma, common

malignant tumour of bone that occurs mainly in Caucasian males under the
age of 20. This form of bone cancer appears most commonly in the shafts of
long bones, such as the femur, tibia, or humerus, or in the ribs or flat bones of the
pelvis, scapula, or skull. Related tumours can also develop in soft tissue.
Symptoms include pain that eventually becomes severe, swelling and
tenderness over the growth, and fever. The lumps caused by Ewing tumours may
be warm to the touch. White blood cell count is elevated.
The disease responds well to chemotherapy; surgery and radiation treatments
are also used. Survival is high for patients with small tumours and exceeds 50
percent even among those with localized larger tumours. If the cancer has
spread, however, the prognosis is poor. Ewing tumours can be destructive and
often metastasize (spread elsewhere in the body) early, especially to the lungs
or to other bones.
Ewing tumour is caused by noninherited rearrangements in chromosomes, and
the disease appears to occur at random. It is named after James Ewing, who
described the disease in 1921.

Avascular necrosis, also called aseptic necrosis, ischemic bone

necrosis, or osteonecrosis, death of bone tissue caused by a lack
of blood supply to the affected area. Avascular necrosis most commonly affects
the epiphyses (ends) of the femur (thigh bone); other commonly affected bones
include those of the upper arm, the shoulder, the knee, and the ankle.
Avascular necrosis tends to occur in men more often than women and typically
is diagnosed between ages 30 and 50. The condition often is progressive,
resulting in joint destruction within three to five years if left untreated.

Marble bone disease, also called osteopetrosis or Albers-Schönberg disease,

rare disorder in which the bones become extremely dense, hard, and brittle.
The disease progresses as long as bone growth continues; the marrow cavities
become filled with compact bone. Because increased bone mass crowds the
bone marrow, resulting in a reduced amount of marrow and therefore a
reduced capacity to produce red blood cells, severe anemia results.
There are both congenital and acquired forms of marble bone disease. The
congenital forms are associated with a decreased number of osteoclasts (bone-
resorbing cells) or decreased osteoclast function. Fractures are
frequent; deafness and loss of vision may occur because cranial
nerves become compressed by the narrowing of their passageways as bone is
deposited in the skull. Severe cases may be fatal, but individuals with mild cases
of the disorder may have a normal life expectancy.
Acquired marble bone disease is usually caused by fluoride deposition in
bone tissue (fluorosis), which results in the growth of dense but brittle bone. The
excess fluoride is usually ingested when drinking well water. Localized marble
bone disease can occur in patients with cancer, usually in patients with breast
cancer or prostate cancer, whose tumours have metastasized (spread) into
bone tissue.
Affected patients are often treated successfully with bone marrow
transplantation, which provides cells that can be converted to osteoclasts.
Therapeutic agents that can be used to treat marble bone disease include
gamma interferon, a protein that delays progression of the disease, or calcitriol,
a vitamin D compound that stimulates osteoclasts to dissolve and absorb bone.

Hip fracture, in pathology, a break in the proximal (upper) end of the femur.
Hip fracture can occur at any age. Common causes include severe impact
(e.g., a caraccident), falls, and weak bones or bone loss (osteoporosis). The risk
of hip fracture from falls and bone loss increases with age. Persons over age
65 may be unsteady on their feet, and their balance can be affected by
medications, dementia, and frailty. Aging is also often associated with bone loss,
particularly in women. Persons whose bones are weak may suffer a hip fracture
when attempting to support their weight on one leg or when moving the hips in
a twisting motion.
Treatment usually consists of surgery to insert a bone plate or, in some cases, to
perform a hip replacement. Patients often are encouraged to move and to
begin to walk with aids as soon as possible in order to prevent potential
complications. Generally, rehabilitation presents few difficulites for younger
patients. Some older people, however, because of frailty or other conditions,
may not be able to take full advantage of rehabilitation programs. In other
cases, rehabilitation programs may not be available. When rehabilitation is
incomplete or lacking, recovery from a hip fracture may be limited. Older
persons, for example, may experience a permanent decrease in mobility and a
diminished quality of life. They also are at increased risk of complications from
hip factures, including thrombosis (formation of a blood clot), pneumonia, and
infections after surgery. Some young patients may require a hip replacement
later in life despite rehabilitation and recovery.
Hip fractures can be prevented to some degree in older people—for example,
through fitness training to retain flexibility and strength. Certain aids may be used
to reduce the potential for a fractured hip if an elderly person does fall. For
example, hip guards that are inserted in pockets in a special undergarment can
act as a type of body armour to protect the hip.

Stress fracture, any overuse injury that affects the integrity of bone. Stress
fractures were once commonly described as march fractures, because they
were reported most often in military recruits who had recently increased their
level of impact activities. The injuries have since been found to be common in
both competitive and recreational athletes who participate in repetitive
activities, such as running, jumping, marching, and skating.
Stress fractures result from microdamage that accumulates during exercise,
exceeding the body’s natural ability to repair the damage. Microdamage
accumulation can cause pain, weaken the bone, and lead to a stress fracture.
The vast majority of stress fractures occur in the lower extremities and most
commonly involve the tibia or fibula of the lower leg or the metatarsals or
navicular bone of the foot or ankle, respectively. Treatment of a stress fracture
depends on both the site and the severity of the injury.
Osteochondroma, also called exostosis, solitary benign tumour that consists
partly of cartilageand partly of bone. Osteochondromas are common and may
develop spontaneously following trauma or may have a hereditary basis. No
treatment is required unless the tumour interferes with function, in which case it
should be surgically removed. Rarely, a solitary osteochondroma will become
malignant in adulthood, giving rise to a chondrosarcoma.
Osteochondromatosis (also called hereditary multiple exostosis or diaphyseal
aclasis) is a relatively common disorder of skeletal development in children in
which bony protrusions develop on the long bones, ribs, and vertebrae. If
severe, the lesions may halt bone growth, and dwarfing will result. Pressure on
tendons, blood vessels, or nerves may cause other disabilities. Normally, such
lesions cease growing at the end of puberty; in rare cases, reactivation of
growth in adulthood may indicate malignant changes.

Bone cancer, disease characterized by uncontrolled growth of cells of

the bone. Primary bone cancer—that is, cancer that arises directly in the bone—
is relatively rare. In the United States, for example, only about 2,400 new cases of
primary bone cancer are diagnosed each year. Most cancer that involves the
bone is cancer that has spread (metastasized) from other tissues in the body
through the blood or lymphatic systems. Different types of bone tissue give rise
to different types of primary bone cancer. Osteosarcoma develops from cells
that form the bone, and Ewing tumour of the bone(Ewing sarcoma) develops
from immature nerve tissue within the bone. Both types most commonly affect
males between 10 and 20 years of age. Chondrosarcoma, which forms in
cartilage tissue, principally affects persons over age 50. More than one-half of
the cases of primary bone cancer, even once-deadly types, can now be
treated successfully.

Osteochondrosis, also called epiphyseal ischemic necrosis, relatively common

temporary orthopedic disorder of children in which the epiphysis (growing end)
of a bone dies and then is gradually replaced over a period of years. The
immediate cause of bone death is loss of bloodsupply, but why the latter occurs
is unclear. The most common form, coxa plana, or Legg-Calvé-Perthes
syndrome, affects the hip and most often begins about the age of six. It is four
times more frequent in boys than in girls. Crippling may result, and degenerative
joint disease is a complication of middle age. Treatment includes rest and
immobilization to prevent injury. In severe cases, detached fragments from the
joint are surgically removed; replacement of the joint may be necessary.

Fibrous dysplasia, rare congenital developmental disorder beginning in

childhood and characterized by replacement of solid calcified bone with
fibrous tissue, often only on one side of the body and primarily in the long bones
and pelvis. The disease appears to result from a genetic mutation that leads to
the overproduction of fibrous tissue.
There are two types of fibrous dysplasia: monostotic and polyostotic. Monostotic
fibrous dysplasia is characterized by an expanding mass composed
of osteoblasts and fibroblasts that originates from bone tissue. Polyostotic fibrous
dysplasia is characterized by masses of fibroblasts and woven bone.
Manifestations of the disorder include enlargement of the bones on one side of
the face and base of the skull, bone pain, and a tendency to fractures.
Individuals with fibrous dysplasia who exhibit café au lait (pale brown) spots on
the skin and an endocrine imbalance leading to precocious puberty, especially
in girls, have a form of the disorder called McCune-Albright syndrome.
Sometimes these patients also have symptoms
of hyperthyroidism or acromegaly. Patients with McCune-Albright syndrome
have somatic mutations (mutations in body cells as opposed to germ cells) of
an intracellular hormone-signaling pathway that cause the pathway to remain
constantly active.
Treatment is generally aimed at relieving bone pain. Drugs called
bisphosphonates (e.g., alendronate) may be used to prevent the breakdown of
bone in some patients. Orthopedic surgery also may be necessary
to alleviate disability resulting from fractures and bony overgrowth.

Cleidocranial dysostosis, also called cleidocranial dysplasia, rare congenital,

hereditary disorder characterized by collarbones that are absent or reduced in
size, skull abnormalities, and abnormal dentition. The shoulders may sometimes
touch in front of the chest, and certain facial bones are underdeveloped or
missing. Cranial sutures are late in fusing, and the skull is round and the eyes are
set wide apart. Other bones, especially the radius (in the forearm), pelvis, hip
joint, and vertebrae, may be malformed. Deciduous teeth are late in falling out,
and, as a result, the permanent teeth are often abnormal. Individuals are not
disabled beyond difficulty in walking, and life expectancy is normal.

Osteoma, small, often solitary bone tumour found mainly on bones of the skull.
Osteomas usually appear in late childhood or young adulthood; they are often
asymptomatic. They do not become malignant, and treatment (by excision) is
necessary only if the tumour interferes with normal functioning.

Osteoclastoma, also called giant cell tumour of bone, bone tumour found
predominantly at the end of long bones in the knee region, but also occurring in
the wrist, arm, and pelvis. The large multinucleated cells (giant cells) found in
these tumours resemble osteoclasts, for which the tumour is named. Usually seen
in female adults between the ages of 20 and 40, this relatively rare, painful
tumour is potentially malignant. Most tumours are benign at the outset and are
removed by curettage (scraping) or complete excision of the tumour. A small
percentage of osteoclastomas may spread to other parts of the body
(metastasize), particularly the lungs.

Bone cyst, benign bone tumour that is usually saclike and filled with fluid.
Unicameral bone cysts affect the long bones, particularly the humerus and
the femur, or heel bones in children and adolescents and are frequently
detected as a result of a fracture. Treatment includes excision of the cyst and a
bone graft, but spontaneous healing is common. Aneurysmal bone cysts usually
occur in young males and consist of cystic bloody tissue that causes an
expansion of bone. Swelling and pain are present; this type of bone cyst usually
requires excision.

Melorheostosis, rare disorder of unknown cause in which

cortical bone overgrowth occurs along the main axis of a bone in such a way as
to resemble candle drippings. Pain is the major symptom, and stiffness and
deformity may result. Usually only one limb and the nearest hip or shoulder are
affected. The disease progresses in childhood but ceases with maturity; adults
have no symptoms beyond residual disability caused by crippling. Surgery may
result in some improvement of symptoms.

Callus, also spelled callous, in osteology, bony and cartilaginous material

forming a connecting bridge across a bone fracture during repair. Within one to
two weeks after injury, a provisional callus forms, enveloping the fracture
site. Osteoblasts, bone-forming cells in the periosteum (the bone layer where
new bone is produced), proliferate rapidly, forming collars around the ends of
the fracture, which grow toward each other to unite the fragments. The
definitive callus forms slowly as the cartilage is resorbed and replaced by
bone tissue. Two to three weeks after injury, strong bony extensions join the
fractured bone ends, and the organized aspect of bone gradually recurs. The
callus is resorbed over a period of months to years.

Caffey syndrome, also called infantile cortical hyperostosis, a

hereditary disease of infants, characterized by swellings of
the periosteum (the bone layer where new bone is produced) and the bone
cortex of the upper arms, shoulder girdle, and lower jaw. The disease is
accompanied by fever and irritability; after a series of periodic exacerbations, it
subsides spontaneously.

Mandibulofacial dysostosis, also called Treacher Collins Syndrome,

or Francheschetti-klein Syndrome, a rare, genetic disorder, inherited as an
autosomal-dominant trait and characterized by some or all of the
following: underdevelopment of the cheek and jaw bones, widely separated
eyes, malformation of the lower eyelid and lack of eyelashes, malformation of
the ear auricle, lack of an external ear canal with resultant conductive
deafness, and other, less common abnormalities. Respiratory problems may be
present in the newborn. Intelligence is normal. Treatment includes correction of
the deafness by use of a hearing aid or by surgical construction of an ear canal
and, sometimes, plastic surgery to enlarge the jaw.