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In circumstances where other pathologies are excluded (for example, cancer), a pathologic fracture is diagnostic of osteoporosis irrespective of bone mineral density.
Pathologic fractures in children and adolescents can result from a diverse array of disorders namely; metabolic, endocrine, neoplastic, infectious, immunologic, and genetic skeletal dysplasias.
- Osteogenesis imperfecta
- Primary hyperparathyroidism
- Simple bone cyst
- Aneurismal bone cyst
- Disuse osteoporosis
- Chronic osteomyelitis
- Osteogenesis imperfecta
- Rickets
- Renal osteodystrophy
- Malignant infantile osteopetrosis
- juvenile osteoporosis
- juvenile rheumatoid arthritis
Children in general are at greater risk because of their high activity levels. Children that have risk-prone behaviors are at even greater risk.
Over 2.5 million child abuse and neglect cases are reported every year, and thirty-five out of every hundred cases are physical abuse cases. Bone fractures are sometimes part of the physical abuse of children; knowing the symptoms of bone fractures in physical abuse and recognizing the actual risks in physical abuse will help forward the prevention of future abuse and injuries. Astoundingly, these abuse fractures, if not dealt with correctly, have a potential to lead to the death of the child.
Fracture patterns in abuse fractures that are very common with abuse are fractures in the growing part of a long bone (between the shaft and the separated part of the bone), fractures of the humeral shaft (long bone between the shoulder and elbow), ribs, scapula, outer end of the clavicle, and vertebra. Multiple fractures of varying age, bilateral fractures, and complex skull fractures are also linked to abuse. Fractures of varying ages occur in about thirteen percent of all cases.
This is an autosomal recessive osteochondrodysplasia that maps to chromosome 1q21. Deficiency of Cathepsin K, a cysteine protease in osteoclasts, is known to cause this condition. Cathepsin K became a much sought-after drug target in osteoporosis after the cause of pycnodysostosis was discovered. The disease consistently causes short stature. The height of adult males with the disease is less than . Adult females with the syndrome are even shorter.
The disease has been named Toulouse-Lautrec syndrome, after the French artist Henri de Toulouse-Lautrec, who may have had the disease. In 1996, the defective gene responsible for pycnodysostosis was located, offering accurate diagnosis, carrier testing and a more thorough understanding of this disorder.
More than 1 in 2 people with OI also have dentinogenesis imperfecta (DI) - a congenital disorder of formation of dentine. Dental treatment may pose as a challenge as a result of the various deformities, skeletal and dental, due to OI. Children with OI should go for a dental check-up as soon as their teeth erupt, this may minimize tooth structure loss as a result of abnormal dentine, and they should be monitored regularly to preserve their teeth and oral health.
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
Pycnodysostosis (from Greek: πυκνός (puknos) meaning "dense", "dys" ("defective"), and "ostosis" ("condition of the bone")), is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K.
Hip fractures are responsible for the most serious consequences of osteoporosis. In the United States, more than 250,000 hip fractures annually are attributable to osteoporosis. A 50-year-old white woman is estimated to have a 17.5% lifetime risk of fracture of the proximal femur. The incidence of hip fractures increases each decade from the sixth through the ninth for both women and men for all populations. The highest incidence is found among men and women ages 80 or older.
Removable splints result in better outcomes than casting in children with torus fractures of the distal radius.
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. It results in bones that break easily. The severity may be mild to severe. Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems, and problems with the teeth. Complications may include cervical artery dissection and aortic dissection.
The underlying mechanism is usually a problem with connective tissue due to a lack of type I collagen. This occurs in more than 90% of cases due to mutations in the "COL1A1" or "COL1A2" genes. These genetic problems are often inherited from a person's parents in an autosomal dominant manner or occur via a new mutation. There are eight types with type I being the least severe and type II the most severe. Diagnosis is often based on symptoms and may be confirmed by collagen or DNA testing.
There is no cure. Maintaining a healthy lifestyle by exercising and avoiding smoking can help prevent fractures. Treatment may include care of broken bones, pain medication, physical therapy, braces or wheelchairs, and surgery. A type of surgery that puts metal rods through long bones may be done to strengthen them. Tentative evidence supports the use of medications of the bisphosphonate type.
OI affects about one in 15,000 people. Outcomes depend on the type of disease. Most people, however, have good outcomes. The condition has been described since ancient history. The term "osteogenesis imperfecta" came into use in 1895 and means imperfect bone formation.
The greenstick fracture pattern occurs as a result of bending forces. Activities with a high risk of falling are risk factors. Non-accidental injury more commonly causes spiral (twisting) fractures but a blow on the forearm or shin could cause a green stick fracture. The fracture usually occurs in children and teens because their bones are flexible, unlike adults whose more brittle bones usually break.
Risk factors for osteoporotic fracture can be split between nonmodifiable and (potentially) modifiable. In addition, osteoporosis is a recognized complication of specific diseases and disorders. Medication use is theoretically modifiable, although in many cases, the use of medication that increases osteoporosis risk may be unavoidable.
Caffeine is not a risk factor for osteoporosis.
It is more likely in females than males.
Osteogenesis imperfecta is a rare condition in which bones break easily. There are multiple genetic mutations in different genes for collagen that may result in this condition. It can be treated with some drugs to promote bone growth, by surgically implanting metal rods in long bones to strengthen them, and through physical therapy and medical devices to improve mobility.
"Achondroplasia" is a type of autosomal dominant genetic disorder that is the most common cause of dwarfism. Achondroplastic dwarfs have short stature, with an average adult height of 131 cm (4 feet, 3 inches) for males and 123 cm (4 feet, 0 inches) for females.
The prevalence is approximately 1 in 25,000 births.
Approximately eight to 40 children are born in the United States each year with the malignant infantile type of osteopetrosis. One in every 100,000 to 500,000 individuals is born with this form of osteopetrosis. Higher rates have been found in Denmark and Costa Rica. Males and females are affected in equal numbers.
The adult type of osteopetrosis affects about 1,250 individuals in the United States. One in every 200,000 individuals is affected by the adult type of osteopetrosis. Higher rates have been found in Brazil. Males and females are affected in equal numbers.
The odds are greater in the Russian region of Mari El (1 of every 14,000 newborns) and much greater in Chuvashia (1 of every 3,500—4,000 newborns) due to genetic features of the Mari people and Chuvash people, respectively.
Smokers generally have lower bone density than non-smokers, so have a much higher risk of fractures. There also is evidence that smoking delays bone healing.
Treatment in fibrous dysplasia is mainly palliative, and is focused on managing fractures and preventing deformity. There are no medications capable of altering the disease course. Intravenous bisphosphonates may be helpful for treatment of bone pain, but there is no clear evidence that they strengthen bone lesions or prevent fractures. Surgical techniques that are effective in other disorders, such as bone grafting, curettage, and plates and screws, are frequently ineffective in fibrous dysplasia and should be avoided. Intramedullary rods are generally preferred for management of fractures and deformity in the lower extremities. Progressive scoliosis can generally be managed with standard instrumentation and fusion techniques. Surgical management in the craniofacial skeleton is complicated by frequent post-operative FD regrowth, and should focus on correction of functional deformities. Prophylactic optic nerve decompression increases the risk of vision loss and is contraindicated.
Managing endocrinopathies is a critical component of management in FD. All patients with fibrous dysplasia should be evaluated and treated for endocrine diseases associated with McCune–Albright syndrome. In particular untreated growth hormone excess may worsen craniofacial fibrous dysplasia and increase the risk of blindness. Untreated hypophosphatemia increases bone pain and risk of fractures.
A Salter–Harris fracture is a fracture that involves the epiphyseal plate or growth plate of a bone. It is a common injury found in children, occurring in 15% of childhood long bone fractures.
Fibrous dysplasia is a disorder where normal bone and marrow is replaced with fibrous tissue, resulting in formation of bone that is weak and prone to expansion. As a result, most complications result from fracture, deformity, functional impairment, and pain. Disease occurs along a broad clinical spectrum ranging from asymptomatic, incidental lesions to severe disabling disease. Disease can affect one bone (monostotic) or multiple (polyostotic), and may occur in isolation or in combination with cafe-au-lait skin macules and hyperfunctioning endocrinopathies, termed McCune-Albright syndrome. More rarely, fibrous dysplasia may be associated with intramuscular myxomas, termed Mazabraud's syndrome. Fibrous dysplasia is very rare, and there is no known cure. Fibrous dysplasia is not a form of cancer.
Chalkstick fractures are fractures, typically of long bones, in which the fracture is transverse to the long axis of the bone, like a broken stick of chalk. A healthy long bone typically breaks like a hard woody stick as the collagen in the matrix adds remarkable flexibility to the mineral and the energy can run up and down the growth rings of bone. The bones of children will even follow a greenstick fracture pattern.
Chalkstick fractures are particularly common in Paget's disease of bone, and osteopetrosis.
In children, whose bones are still developing, there are risks of either a growth plate injury or a greenstick fracture.
- A greenstick fracture occurs due to mechanical failure on the tension side. That is, since the bone is not so brittle as it would be in an adult, it does not completely fracture, but rather exhibits bowing without complete disruption of the bone's cortex in the surface opposite the applied force.
- Growth plate injuries, as in Salter-Harris fractures, require careful treatment and accurate reduction to make sure that the bone continues to grow normally.
- Plastic deformation of the bone, in which the bone permanently bends, but does not break, also is possible in children. These injuries may require an osteotomy (bone cut) to realign the bone if it is fixed and cannot be realigned by closed methods.
- Certain fractures mainly occur in children, including fracture of the clavicle and supracondylar fracture of the humerus.
A compound elevated skull fracture is a rare type of skull fracture where the fractured bone is elevated above the intact outer table of the skull. This type of skull fracture is always compound in nature. It can be caused during an assault with a weapon where the initial blow penetrates the skull and the underlying meninges and, on withdrawal, the weapon lifts the fractured portion of the skull outward. It can also be caused the skull rotating while being struck in a case of blunt force trauma, the skull rotating while striking an inanimate object as in a fall, or it may occur during transfer of a patient after an initial compound head injury.
Tibia shaft fractures are the most common long bone fractures. They account for approximately 4% of the fractures seen in the Medicare population.
A fracture in conjunction with an overlying laceration that tears the epidermis and the meninges—or runs through the paranasal sinuses and the middle ear structures, putting the outside environment in contact with the cranial cavity—is a compound fracture.
Compound fractures may either be clean or contaminated. Intracranial air (pneumocephalus) may occur in compound skull fractures.
The most serious complication of compound skull fractures is infection. Increased risk factors for infection include visible contamination, meningeal tear, loose bone fragments and presenting for treatment more than eight hours after initial injury.