eMedicine Specialties > Radiology > Musculoskeletal

Osteochondroma and Osteochondromatosis

Author: Ali Nawaz Khan, MBBS, FRCS, FRCP, FRCR, LRCP, Chairman of Medical Imaging, Professor of Radiology, NGHA, King Fahad National Guard Hospital, King Abdulaziz Medical City, Riyadh, Saudi Arabia
Coauthor(s): Mohammed Jassim Al-Salman, MBBS, Consulting Radiologist, King Abdul Aziz Medical City, National Guard Hospital; Sumaira MacDonald, MBChB, PhD, MRCP, FRCR, Lecturer, Sheffield University Medical School; Endovascular Fellow, Sheffield Vascular Institute
Contributor Information and Disclosures

Updated: Jul 29, 2008

Introduction

Background

An osteochondroma is a cartilage-covered bony excrescence (exostosis) that arises from the surface of a bone. Osteochondromas, which are the most common bone tumors in children, may be solitary or multiple, and they may arise spontaneously or as a result of previous osseous trauma. An osteochondroma can affect any bone preformed in cartilage.

The true prevalence of solitary osteochondromas is not known, because many asymptomatic lesions go undiagnosed. Hereditary multiple exostoses (HME), also known as osteochondromatosis, is an inherited, autosomal dominant disorder in which multiple osteochondromas are seen throughout the skeleton. John Hunter was the first to comment on HME and described a patient with the condition in his Lectures on the principles of surgery (1786).1 The first description of a family with HME was published by Boyer, in 1814.2 In 1825, a second family with HME was described.3

Most osteochondromas, solitary or multiple, arise from tubular bones and are metaphyseal in location. Multiple epiphyseal dysplasia and dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, are autosomal dominant conditions in which the chondromas arise from the epiphysis and cause joint problems.

Patients with HME may have anywhere from 2 osteochondromas to hundreds of them. Most solitary osteochondromas are discovered incidentally in children and adolescents. A painless skeletal swelling or a slowly growing mass is the usual mode of presentation. HME leads to abnormalities such as palpable bony masses and limb shortening in the first or second decade of life.

Complications of osteochondromas include fractures, bony deformities, neurologic and vascular injuries, bursa formation, and malignant transformation. Advances have added to the understanding of the molecular and genetic bases of HME.

Multiple osteochondromatosis. Fractures of the lo...

Multiple osteochondromatosis. Fractures of the lower tibia and fibula as a complication of hereditary multiple exostoses. Note the osteochondromas involving the calcaneum and the upper and lower portions of the tibia and fibula.

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Multiple osteochondromatosis. Fractures of the lo...

Multiple osteochondromatosis. Fractures of the lower tibia and fibula as a complication of hereditary multiple exostoses. Note the osteochondromas involving the calcaneum and the upper and lower portions of the tibia and fibula.


Multiple osteochondromatosis. Nonenhanced, axial ...

Multiple osteochondromatosis. Nonenhanced, axial computed tomography (CT) scan through the pelvis (same patient as in Image 7 in Multimedia). Note the fragmentation of the osteochondroma and the considerable soft-tissue mass. Histology of the resected specimen revealed a low-grade chondrosarcoma.

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Multiple osteochondromatosis. Nonenhanced, axial ...

Multiple osteochondromatosis. Nonenhanced, axial computed tomography (CT) scan through the pelvis (same patient as in Image 7 in Multimedia). Note the fragmentation of the osteochondroma and the considerable soft-tissue mass. Histology of the resected specimen revealed a low-grade chondrosarcoma.


Osteochondroma with malignant degeneration. Plain...

Osteochondroma with malignant degeneration. Plain radiograph of the pelvis in a 68-year-old woman who presented with a painful lump over the left greater trochanter. Note the sclerotic exostosis arising from the left greater trochanter. Technetium-99m (99mTc) diphosphonate scintigram (left) shows intense activity in the region of the left greater trochanter. At surgery (right), the lesion was diagnosed as a low-grade chondrosarcoma superimposed on an osteochondroma.

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Osteochondroma with malignant degeneration. Plain...

Osteochondroma with malignant degeneration. Plain radiograph of the pelvis in a 68-year-old woman who presented with a painful lump over the left greater trochanter. Note the sclerotic exostosis arising from the left greater trochanter. Technetium-99m (99mTc) diphosphonate scintigram (left) shows intense activity in the region of the left greater trochanter. At surgery (right), the lesion was diagnosed as a low-grade chondrosarcoma superimposed on an osteochondroma.


Pathophysiology

Solitary osteochondromas

Solitary osteochondromas are a relatively frequent finding and are regarded as true tumors or growth disturbances. They form in parts of the skeleton that develop from endochondral ossification and thus are closely linked to physes.

Solitary osteochondromas vary considerably in size; the average lesion arising from a tubular bone is approximately 4 cm. Osteochondromas arising from flat bones tend to be larger.

On pathologic sections, the osteochondroma is found to have a cartilaginous cap. Histologically, the cartilaginous cap is identical to the physeal growth plate. During active growth, the cap is composed of hyaline cartilage. The thickness of the cap is correlated with the age of the patient, and the cap decreases in size as patients age. In children and adolescents, the cap may be as thick as 3 cm, whereas in older patients, it may be nonexistent. A thick, cartilaginous cap (>1 cm) in adults should raise the possibility of malignant transformation.

Osteochondromas

Osteochondromas develop due to a beaked failure of constriction, with cortical overgrowth adjacent to the growth plate. Subsequent eccentric, bony growth from this beak usually, but not invariably, occurs in a direction away from the joint, forming an excrescence that continues to grow until the growth plate closes and growth ceases at puberty.

Malignant degeneration occurs in 1-25% of cases and should be suspected if an exostosis rapidly increases in size, especially in an adult. Spontaneous resolution of osteochondromas has been described. Osteochondromas that continue to grow after puberty should raise the possibility of chondrosarcomatous transformation.

Hereditary multiple exostoses

Hereditary multiple exostoses (HME) is an autosomal dominant condition associated with short stature, multiple osteochondromas, and asymmetrical growth at the knees and ankles; it may lead to deformities.4 The leg-length inequality is usually about 4 cm, and the risk of malignant degeneration is between 1% and 20%.

The osteochondromas are located close to the metaphyses, and they may be sessile or pedunculated. The cortex of the lesion is continuous with the cortex of the bone, with a homogeneous continuation of the medulla.5

Dysplasia epiphysealis hemimelica

DEH, or Trevor disease, is characterized by osteochondromas arising in the epiphyses and thus involving the joint. The lesions are usually restricted to 1 side of the body, either left or right. Hence, the name hemimelica is used, to reflect involvement of 1 side of the body. There may be multiple lesions in a single limb.

DEH usually occurs in infants or young children. DEH primarily involves 1 side of an epiphysis; the medial side is affected twice as often as the lateral side. On macroscopic inspection, the bony lesion is found to be a pedunculated mass closely connected to the epiphysis with a cartilaginous cap. The histologic appearances are similar to those of an osteochondroma.

Multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia is another autosomal dominant condition characterized by the presence of irregular epiphyseal ossification, with intracapsular or periarticular chondromas of the knees and ankles. Patients with this condition usually present in late childhood. The spine is usually normal.

Osteochondromatosis, dominant carpotarsal

Osteochondromatosis, dominant carpotarsal, is another autosomal dominant entity, which Maroteaux and colleagues described in a mother and son. This appeared to be the same condition as that in the family reported by Hensinger and coauthors. The osteochondromas are confined to carpotarsal bones. Maroteaux suggested that osteochondromatosis, dominant carpotarsal, is a condition distinct from DEH. Osteochondromatosis, dominant carpotarsal, is usually sporadic.

Pathogenesis

Osteochondromas develop due to a beaked failure of constriction, with cortical overgrowth adjacent to the growth plate and subsequent eccentric, bony growth from this beak usually away from the joint. The excrescence that forms then continues to grow until the growth plate closes; growth ceases at puberty. Malignant degeneration occurs in 1-25% of cases and should be suspected if an exostosis rapidly increases in size, especially in an adult. Spontaneous resolution of osteochondromas has been described. Osteochondromas that continue to grow after puberty should raise the possibility of chondrosarcomatous transformation.

The pathogenesis of HME is poorly understood, but many theories have been put forward to explain its development. The isolation of islets of cartilaginous tissues from the diaphyseal surface of growing cartilage had been hypothesized to cause abnormal osteogenesis. Further theories postulate that osteochondroma formation is related to a defect in the anchoring of germinal cartilage cells to the physis or to the failure of a thin, cortical sleeve of bone acting as a structural constraint, with this failure allowing a spillover of physeal cells onto the metaphysis. The physical-stress theory postulates that focal accumulations of embryonic connective tissue at sites of tendon attachments are converted to hyaline cartilage.

Müller supports a clonal etiology and theorizes that osteochondromas result from a primary defect in periosteal differentiation in which ectopic collections of cartilage cells arise from the proliferative layer of the metaphyseal periosteum.6,7 Multipotent mesenchymal cells in the region of the perichondral groove of Ranvier have also been implicated in the development of osteochondromas.

Langenskiöld believes that proliferative interstitial physeal chondrocytes persist in chondrogenesis as they are transformed into the proliferative layer of the metaphyseal periosteum.

Clonal karyotypic abnormalities have been documented in osteochondromas. Studies indicate that the cartilaginous portion of the osteochondroma has a clonal or neoplastic origin.

Porter and Simpson believe that the osteal portion of the osteochondroma provides only a supportive stroma, an idea that is supported by the fact that ablation of the cartilage cap alone is followed by cessation of growth of the osteochondroma.8 Currently, however, no molecular or immunohistochemical data supports this observation.

Genetic basis of disease

HME is an autosomal dominant disorder with near-complete penetrance. Genetically heterogeneous, it has been associated with mutations in at least 3 different EXT genes. Changes in EXT1 and EXT2 seem to be the most common in HME. Two of the genes are known to function as tumor suppressor genes.9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25

The 3 EXT loci have been mapped: EXT1 is in chromosomal regions 8q23-q24, EXT2 is on 11p11-p12, and EXT3 is on chromosome arm 19p.26,27,28,29,30,31 Linkage analysis show that the EXT1 and EXT2 loci appear to be altered in most families, whereas EXT3, which has not been fully isolated and characterized, is probably less frequently involved.

Epidemiologic analysis of linkage and mutation data indicate that mutations of EXT1 and EXT2 are likely to be responsible respectively for one half and one third of all cases of multiple hereditary exostoses. Further work indicates that in sporadic exostoses and in the inherited ones, chromosomal deletions are present surrounding the EXT1 and EXT2 loci. Additionally, the EXT -like genes are located at sites of tumor suppressor genes in neoplasia32 ; EXTL1 has been localized to 1p36, which is often a site of deletion in tumors. EXTL3 may be a breast cancer locus.33,34,35

Research has shown loss of heterozygosity at the EXT loci in the cartilaginous cap of osteochondromas and in tissue from chondrosarcomas. Further, clonal karyotypic anomalies have been documented in osteochondromas. These studies indicate that the cartilaginous portion of the osteochondroma has a clonal or neoplastic origin.

HME has been associated with other genetic syndromes, such as Langer-Giedion syndrome (LGS), or trichorhinophalangeal syndrome type II (TRP II), and DEFECT 11 syndrome.36 Patients with TRP II have a deletion of the EXT1 gene, and they often have associated mental retardation, cone-shaped epiphyses, and atypical facies. DEFECT 11 syndrome involves osteochondromas, enlarged parietal foramina, craniofacial dysostosis, and mental retardation. Patients with this syndrome have deletions of the entire EXT2 gene in chromosomal regions 11p11-p12.

Frequency

United States

Solitary osteochondromas are the most common skeletal tumors in childhood, occurring in approximately 1 in 200 children. However, the true prevalence of solitary osteochondromas is not known, because many asymptomatic lesions are never diagnosed.

A study from Washington State revealed that about 1 person in 50,000 is likely to have hereditary multiple exostoses (HME). In the families studied, 90% had a family history of HME.

International

There are no data to suggest that the international frequency of osteochondromas internationally is different from that in the United States.

Mortality/Morbidity

Morbidity and mortality are primarily related to the complications associated with osteochondromas (see Complications of Osteochondromas in Clinical Details).

Race

  • Hereditary multiple exostoses (HME) is more frequently found in white persons than in persons of other races and affects 0.9-2 individuals per 100,000 population.
  • A higher incidence of HME has been described in isolated communities, such as the Chamorros of Guam or the Ojibwa Indian community of Pauingassi, in Manitoba, Canada. These populations have a prevalence of 100 and 1310 cases per 100,000 population, respectively.

Sex

  • Solitary osteochondromas are more prevalent in males than in females.
  • Although hereditary multiple exostoses (HME; diaphyseal achalasia) was previously thought to have a male predominance, it now appears to affect both sexes equally.
  • Dysplasia epiphysealis hemimelica (DEH) occurs more commonly in males than in females.

Age

  • Solitary osteochondromas typically occur in the first to third decades.
  • Hereditary multiple exostoses (HME) usually appear in childhood (2-10 y); they are most often discovered by age 4 years.

Presentation

Physical findings

Solitary osteochondromas

Osteochondromas can occur at any time between birth and the cessation of growth. Most solitary osteochondromas are discovered in children and adolescents as painless, slow-growing masses. However, depending on the location of the osteochondroma, significant symptoms may occur as a result of complications, such as fracture, bony deformity, mechanical joint problems, and vascular or neurologic compromise. Pain, swelling, and an enlarging soft-tissue mass may herald malignant transformation.37 The estimates of the risk of malignant transformation (usually chondrosarcomas) vary, with a range of 1-25%.

Hereditary multiple exostoses

Hereditary multiple exostoses (HME) is an autosomal dominant condition associated with short stature, multiple osteochondromas, and asymmetric growth at the knees and ankles, which may lead to deformities. Leg-length inequality is usually about 4 cm, and the risk of malignant degeneration is about 1-20%.

Patients with HME can have anywhere from 2 osteochondromas to hundreds of them. Most osteochondromas related to HME are located at the periphery of the most rapidly growing ends of long bones, but they also commonly involve the medial borders of the scapulae, ribs, and iliac crests. Osteochondromas affect the tarsus and carpus less frequently. Skull involvement has been reported only once, and involvement of the facial bones has not been reported.

Osteochondromas in HME come to clinical attention during the first decade of life in more than 80% of patients. The most common locations where the bony lumps are discovered are on the tibia and the scapulae. In rare cases, osteochondromas are discovered at birth, but these are usually cases in which a targeted search is made in the context of a positive family history. Several reports have described osteochondromas interfering with normal birth in pregnancy and leading to a higher rate of cesarean deliveries.

Osteochondromas tend to grow while the growth plates are open, but growth ceases with skeletal maturity. Rarely, spontaneous resolution of osteochondromas has been reported during childhood and puberty. Recurrence of an exostosis after surgical ablation has been reported, but it is usually attributed to incomplete resection. Most osteochondromas in HME are painless, and the patient's concern may be cosmetic. However, pain may ensue after soft-tissue trauma.

Pain is a common presentation with malignant transformation. The formation of a bursal compartment surrounding a large osteochondroma is common. Bursae are particularly common at sites of friction around scapulae and the distal femur. These bursae may become inflamed and painful.

Impaired body growth, symmetrical and asymmetrical, is common in HME. The result is short stature, limb-length discrepancies, valgus deformities of the knee and ankle, asymmetry of the pectoral and pelvic girdles, bowing of the radius (with ulnar deviation of the wrist), and subluxation of the radial head. Patients with HME frequently have a short stature, usually with a height 0.5-1.0 standard deviation below the mean. About 36.8% of affected men and 44.2% of affected women have been observed to have a height below the fifth percentile.

Limbs are usually involved disproportionately, as compared with the spine. Limb-length inequality of 2 cm or greater has been reported, with a prevalence ranging from 10-50%. Shortening can occur in the femur and/or the tibia; the femur is affected approximately twice as commonly as the tibia. Scoliosis, coxa valga (25%), acetabular dysplasia, and shortening of the metatarsals, metacarpals, and phalanges occur less frequently.

Tendons, nerves, or blood vessels may be trapped around osteochondromas, leading to symptoms. Spinal cord compression is a rare complication of HME, and several case reports have appeared in the literature. Visceral injuries and/or luminal obstructions have been described with inwardly growing osteochondromas. These conditions include dysphagia, hemothorax, and urinary and intestinal obstruction.38,39

The severity of forearm involvement in HME has been linked to the overall severity of the disease. Taniguchi categorized patients into 3 groups40 : (1) those with a normal distal forearm, (2) those with involvement of the distal radius or ulna without bone shortening, and (3) those with involvement of the distal radius or ulna with bone shortening. He concluded that an increasing forearm involvement was associated greater severity of the disease process overall and that patients with more osteochondromas, particularly those involving the knee, have an increased valgus deformity and shorter stature. Forearm involvement also leads to an earlier diagnosis.41

The hand is involved in 30-79% patients. The metacarpals and phalanges are affected in most patients, who are usually asymptomatic. Osteochondromas may result in shortening of the metacarpals and phalanges, and brachydactyly may also be seen in the absence of osteochondromas. Osteochondromas affect the forearm (40-60%) more frequently than they do the upper arm.

Radial bowing may ensue as a result of disproportionate ulnar shortening with relative radial overgrowth. Radial head subluxation or dislocation may be a sequel to the radial overgrowth. Although this deformity superficially resembles Madelung anomaly, the characteristic relative elongation or dorsal subluxation of the distal ulna seen in Madelung deformity is not present.

Femoral anteversion and valgus have been reported with osteochondromas located near the lesser trochanter. Proximal femoral osteochondromas can cause impairment of hip flexion. Rare cases of acetabular dysplasia resulting in subluxation of the hip have been reported. Valgus deformity of the knees occurs in as many as 30% of patients. The fibula may be shortened disproportionately as compared with the tibia, contributing to a consistent valgus deformity. Angular limb deformities are commonly associated with osteochondromas, affecting the proximal tibia (70-98%) or fibula (30-97%).

Valgus deformity of the ankle is a common complication (45-54%) attributed to multiple factors, including shortening of the fibula relative to the tibia. Obliquity resulting from a valgus deformity of the ankle may cause medial subluxation of the talus.

Neurologic and vascular compromise may affect both extremities. Symptoms of peripheral nerve compression occur in 22.6% of patients. A recognized complication of HME in children is peroneal neuropathy associated with an osteochondroma affecting the proximal fibula. A single report describes ulnar neuropathy from compression by an osteochondroma at the elbow. Vascular compromise secondary to osteochondromas has been reported in 11.3% of patients with HME. The popliteal artery is most frequently involved. Vascular compression, arterial thrombosis, aneurysm, pseudoaneurysm formation, and venous thrombosis are common complications and lead to claudication pain, acute ischemia, and signs of phlebitis.42

Malignant degeneration

Malignant degeneration of a benign osteochondroma occurs in 1-25% of patients. The likelihood of such transformation is greater with HME than with other conditions. Most transformations are to a chondrosarcoma, but other sarcomata may complicate the disease. Most patients with this complication present with a painful mass.

Rarely, nerve compression can be the presenting complaint. The mean age at diagnosis is reported to be 31 years. Malignant transformation is said to occur only rarely in the first or fifth decade of life.

The risk of superimposed malignant transformation varies among families, reflecting genetic heterogeneity that predisposes osteochondromas to malignant degeneration. Because of this risk, a case can be made for a careful follow-up of patients with HME .

Growth of an osteochondroma in a mature skeleton should suggest malignancy and must be assessed. Additionally, an osteochondroma with a cartilaginous cap greater than 1 cm in an adult should be carefully assessed, because this finding has also been associated with an increased risk of malignancy.

Dysplasia epiphysealis hemimelica

Dysplasia epiphysealis hemimelica (DEH), or Trevor disease, usually occurs in infants or young children. The clinical manifestations include pain, swelling, and joint deformity localized to 1 side of the body. The lower limbs are more commonly affected than are the upper limbs. The talus, distal femur, proximal tibia, and distal tibia are the sites typically affected. Approximately 70% of patients have multiple-bone involvement in a single limb.

Complications of osteochondromas

Complications of osteochondromas include fractures, bony deformities, neurologic and vascular injuries, bursa formation, and malignant transformation. Research advances have added to the understanding of the molecular and genetic bases of HME.

A large, pedunculated osteochondroma may be exposed to trauma and fracture.

Osseous deformity can affect the tubular bones. This complication is generally associated with large osteochondromas and occurs more frequently with HME than with other conditions. Growth disturbance may also occur; again, this is more common with HME.

Morbidity may arise as a result of arterial or venous thrombosis. Aneurysms and false aneurysms have been described. Vascular complications occur more commonly in the popliteal artery with osteochondromas affecting the knee.

Neurologic complications occur in 8% of patients. Such complications are mostly related to spinal cord compression or compromise of the nerve roots by spinal osteochondromas.

Bursa formation can surround the tip of the osteochondroma. This happens more commonly with large osteochondromas than with small ones. These bursae may become inflamed or infected, becoming symptomatic.

Severe DEH is associated with muscle wasting, growth disturbance, and joint deformities.

Malignant transformation has been estimated to occur in 1-25% of osteochondromas; this appears to be more common in HME than in other conditions. The complicating tumor is usually a chondrosarcoma and is generally of low grade.

Appreciable morbidity is related to resection of osteochondromas and to corrective surgery on osteochondroma-related osseous deformity. Resection should be performed only when the skeleton has matured, unless the lesion is symptomatic. Resection performed in an immature skeleton may result in a severe growth deformity if damage to the epiphyseal plate occurs.

Preferred Examination

Plain radiography remains the examination of choice in the evaluation of osteochondromas, and it may be the only imaging study required. The radiographic appearances of osteochondromas are usually characteristic.

Computed tomography (CT) scanning is particularly useful in the assessment of osteochondromas in the pelvis, shoulder, or spine. With spiral and multisection CT scanning, excellent reconstructions can be formatted in various planes without exposing the patient to a further radiation burden.

Ultrasonography can be used in the evaluation of the cartilaginous cap and of complications associated with osteochondromas, such as arterial or venous thrombosis, aneurysm and pseudoaneurysm formation, and bursitis.

Magnetic resonance imaging (MRI) is useful for assessing continuity of the parent bone with the cortical and medullary bone in an osteochondroma. Cartilage in the cap has high signal intensity on T2-weighted, spin-echo MRI scans. This characteristic allows measurement of the cap, which is an important consideration in malignant transformation. MRI also provides information about inflammation in reactive bursa formation, impingement syndromes, and arterial and venous compromise. This study is the method of choice for evaluating compression of the spinal cord, nerve roots, and peripheral nerves.

Arteriography remains the criterion standard for depicting vascular occlusion, as well as aneurysm and pseudoaneurysm formation. Angiography is not universally employed in the diagnosis of sarcomatous transformation, but it is highly useful for tracing the malignant character and true extent of the lesion.

Limitations of Techniques

None of the imaging techniques described are reliable in differentiating a benign osteochondroma from a sarcomatous transformation.

Although plain radiographs are an excellent means of depicting osseous pathology, they do not provide reliable information about adjacent soft-tissue compromise (such as tendinous, vascular, or neurologic involvement) or about bursa inflammation. Plain radiographs may also not be sufficient to provide images of osteochondromas involving complex bones, such as the spinal column.

Ultrasonography can provide information on the cartilage cap but not on the underlying bone in an osteochondroma. Also, ultrasonography remains operator dependent.

With CT scanning, radiation burden in the young may be a disadvantage, particularly when several examinations may be required in the workup of hereditary multiple exostoses (HME) or sarcomatous transformation.

Angiography is invasive, and because of the iodinated contrast material used in this procedure, there is a risk of anaphylaxis and renal toxicity.

MRI is expensive, has limited availability, and cannot be performed in the claustrophobic patient and in patients with certain types of heart valves, surgical clips, or other ferromagnetic foreign bodies.

Radionuclide scanning has high sensitivity but low specificity. It is also expensive and has limited availability. Radionuclides are not reliable in differentiating between a benign osteochondroma and a chondrosarcoma.

Experience with 2-[fluorine-18]-fluoro-2-deoxy-D-glucose positron emission tomography (FDG-PET) is limited.43 In addition, the procedure is expensive and has limited availability.

Differential Diagnoses

Other Problems to Be Considered

Metaphyseal spurs

  • Hyperparathyroidism
  • Short-rib polydactyly syndrome type II
  • Short-rib polydactyly syndrome type III
  • Spur-limbed dwarfism
  • Adenosine deaminase deficiency - Associated with irregularity of the metaphyseal ends of long bones, splayed metaphyses, metaphyseal spurs perpendicular to the long axis of bones, short and wide ribs, cup-shaped at costochondral junctions, bone-within-a-bone appearance of vertebrae, and osteoporosis, among other skeletal abnormalities
  • Copper deficiency - Associated with osteoporosis, irregularity and cupping of the provisional zone of calcification, sickle-shaped spur formation continuous with the provisional zone of calcification, multiple fractures, subperiosteal hemorrhage, subperiosteal elation and calcification, and delayed skeletal growth
  • Iso-Kikuchi syndrome - Associated with asymmetric upper limb anomalies, hypoplastic thumb, triphalangeal thumb, long and slender metacarpals, hypoplastic carpal bones, fusion of the radius and ulna, and subungual spur
  • Fibrodysplasia ossificans progressiva - Associated with microdactyly, small vertebrae, ossification of ligamentous insertions producing pseudo-exostoses, and spiking and flaring of metaphyses
  • Hypophosphatasia - Associated with a variety of prenatal and postnatal skeletal abnormalities (Spurs [eg, Bowdler spur] in the midportion of long bones are a known association.)
  • Menkes disease - Associated with bilateral metaphyseal spurring of long bones in infancy, flaring of the ribs, osteoporosis, fractures and diaphyseal periosteal reaction of the long bones, thickening of the scapulae and clavicles, and CNS abnormalities

Exostoses/osteochondromas

  • Fetal alcohol syndrome - Multisystemic disorder associated with bilateral tibial exostoses
  • Turner syndrome - Associated with exostosis of tibia
  • Tuberous sclerosis - Described association with exostoses of long bones
  • Radiation-induced osteochondromas
  • Traumatic bony injury/fractures
  • Acrodysostosis - Associated with brachycephaly, hypoplastic facial bones, thick calvarium, peripheral dysostosis, epiphyseal and vertebral stippling, and exostoses of the proximal tibia
  • Osteochondromatosis, carpotarsal dominant - Associated with osteochondromas of carpal and tarsal bones, cuboid, calcaneum, metacarpals, metatarsals, fibulae, and tibiae
  • Chondroectodermal dysplasia - Associated with short ribs, bowed femur, trident iliac wings, bowed humerus, and exostosis of the medial aspect of the distal metaphysis of the humerus in the newborn
  • TRP II (LGS) - Associated with multiple exostoses and redundant skin folds (The presence of exostoses differentiates TRP II from TRP I.)
  • Bizarre parosteal osteochondromatous proliferation (BPOP) - Also known as the Nora lesion; a benign process that can be confused with osteochondromas and is occasionally misinterpreted as a malignant process44,45 (Radiologically, calcific masses are attached to the underlying cortex without interruption of the latter. The original report described lesions confined to the small bones of the hands and feet, but subsequent reports have included the skull, maxilla, and long bones [eg, tibia, femur].)

Spurs seen as normal anatomic variants

  • Cervical spine - Development of a spurlike process from the posterior neural arch
  • Olecranon - Spurs usually seen in the young
  • Radius - Spur located in the distal radius in adolescents
  • Metacarpals/metatarsals - Spur on the distal end of the bones associated with accessory ossification centers
  • Phalanges - Spurs that affect the proximal phalanges in the fingers and the medial aspects of the terminal phalanges in the toes
  • Ribs - Spurs that may affect any rib
  • Acetabulum - Spurlike superior lip
  • Sacroiliac joints - Spur on the inferior aspect of the joint
  • Obturator foramen - Spurs in the obturator foramen arising from the pubis; usually seen in the elderly
  • Ileum - Spurring of muscle attachments; usually seen in the elderly
  • Patella - Spurs on the medial aspect
  • Fibula - Tug lesion at both ends of the soleus muscle producing a fibular spur and the soleal line
  • Calcaneum - Transient developmental spur in infants
  • Navicular bone - Spurlike process projecting posteriorly
  • Humerus - Upper metaphyseal spurs seen in young adults and adolescents (A supracondylar process is a vestigial structure associated with symptoms; it occurs in about 1% of the European population. The axis of the process is directed distally.)
  • Tibia - Spur on the tibial plateau in the absence of osteoarthritis; possibly represents attachment of the anterior cruciate ligament (A small spur may be present on the medial tibial metaphyses; it probably represents a tug lesion produced by the tibial collateral ligament.)

More on Osteochondroma and Osteochondromatosis

Overview: Osteochondroma and Osteochondromatosis
Imaging: Osteochondroma and Osteochondromatosis
Follow-up: Osteochondroma and Osteochondromatosis
Multimedia: Osteochondroma and Osteochondromatosis
References
Further Reading
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References

  1. Hunter J. The Works of John Hunter. vol 1. London, England: Longman, Rees; 1835.

  2. Boyer, A. Traité des maladies chirurgicales. vol 3. Paris, France: Ve Migneret; 1814:594.

  3. Guy's hospital reports case of cartilaginous exostosis. Lancet. 1825;2:91.

  4. Alvarez CM, De Vera MA, Heslip TR, et al. Evaluation of the anatomic burden of patients with hereditary multiple exostoses. Clin Orthop Relat Res. Sep 2007;462:73-9. [Medline].

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Keywords

osteochondroma, osteochondromatosis, hereditary multiple exostoses, HME, multiple osteocartilaginous exostoses, diaphyseal achalasia, diaphysial achalasia, multiple hereditary osteochondromata, multiple congenital osteochondromata, diaphyseal aclasis, diaphysial aclasis, chondral osteogenic dysplasia of direction, chondral osteoma, deforming chondrodysplasia, dyschondroplasia exostosing disease, exostotic dysplasia, multiple osteomatoses osteogenic disease, familial bony spurs, metaphyseal spurs, multiple epiphyseal dysplasia, dysplasia epiphysealis hemimelica, Trevor disease, Trevor's disease

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Contributor Information and Disclosures

Author

Ali Nawaz Khan, MBBS, FRCS, FRCP, FRCR, LRCP, Chairman of Medical Imaging, Professor of Radiology, NGHA, King Fahad National Guard Hospital, King Abdulaziz Medical City, Riyadh, Saudi Arabia
Ali Nawaz Khan, MBBS, FRCS, FRCP, FRCR, LRCP is a member of the following medical societies: American Institute of Ultrasound in Medicine, Radiological Society of North America, Royal College of Physicians, Royal College of Physicians and Surgeons of the United States, Royal College of Radiologists, and Royal College of Surgeons of England
Disclosure: Nothing to disclose.

Coauthor(s)

Mohammed Jassim Al-Salman, MBBS, Consulting Radiologist, King Abdul Aziz Medical City, National Guard Hospital
Disclosure: Nothing to disclose.

Sumaira MacDonald, MBChB, PhD, MRCP, FRCR, Lecturer, Sheffield University Medical School; Endovascular Fellow, Sheffield Vascular Institute
Sumaira MacDonald, MBChB, PhD, MRCP, FRCR is a member of the following medical societies: British Medical Association, Royal College of Physicians, and Royal College of Radiologists
Disclosure: Nothing to disclose.

Medical Editor

Michael A Bruno, MD, Associate Professor, Departments of Radiology and Medicine, Pennsylvania State University College of Medicine; Director, Radiology Quality Management Services, Milton S Hershey Medical Center, Pennsylvania State University College of Medicine
Michael A Bruno, MD is a member of the following medical societies: American College of Radiology, American Roentgen Ray Society, Association of University Radiologists, Radiological Society of North America, Society of Nuclear Medicine, and Society of Skeletal Radiology
Disclosure: Nothing to disclose.

Pharmacy Editor

Bernard D Coombs, MB, ChB, PhD, Consulting Staff, Department of Specialist Rehabilitation Services, Hutt Valley District Health Board, New Zealand
Disclosure: Nothing to disclose.

Managing Editor

Theodore E Keats, MD, Professor, Departments of Radiology and Orthopedics, University of Virginia School of Medicine
Disclosure: Nothing to disclose.

CME Editor

Robert M Krasny, MD, Consulting Staff, Department of Radiology, The Angeles Clinic and Research Institute
Robert M Krasny, MD is a member of the following medical societies: American Roentgen Ray Society and Radiological Society of North America
Disclosure: Nothing to disclose.

Chief Editor

Felix S Chew, MD, MBA, EdM, Professor, Department of Radiology, Vice Chairman for Radiology Informatics, Section Head of Musculoskeletal Radiology, University of Washington
Felix S Chew, MD, MBA, EdM is a member of the following medical societies: American Roentgen Ray Society, Association of University Radiologists, and Radiological Society of North America
Disclosure: Nothing to disclose.

 
 
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