OSTEOCHONDROMA AND OSTEOCHONDROMATOSIS

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). The first description of a family with HME was published by
Boyer, in 1814. In 1825, a second family with HME was described.
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 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 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 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

low-grade

chondrosarcoma

superimposed

on

an

osteochondroma.

Recent studies
In a study of 12 patients from 2005-2007 with an osteocartilagenous lesion who
underwent fluorodeoxyglucose (FDG) PET-CT study, Purandare et al found that wholebody

FDG

PET-CT

was

helpful

in

identifying

malignant

transformation

of

osteochondromas. There was moderate to high FDG uptake in 7 patients who had
histopathologic evidence of a sarcomatous transformation to grade II chondrosarcoma,
and there was a focus of very intense FDG uptake in 1 patient with a dedifferentiated

chondrosarcoma; low-grade FDG uptake occurred in 4 patients with diagnoses of

benign osteocartilaginous lesions. In addition, FDG uptake was seen in an
asymptomatic osteochondroma, with a grade II chondrosarcoma being identified on
histopathology.
El-Fiky et al assessed the anteroposterior radiographic features of 36 hips (18 patients
aged 2-28 y) with HME and found that osteochondromas were located most often in the
femur and then the ilium. Of the 18 patients, 15 were asymptomatic and 3 had pain
symptoms. None of the lesions were malignant. Coxa valga was present in 32 hips; an
abnormal Reimer migration percentage in 26; an abnormal Sharp acetabular angle in
17; an abnormal center edge angle in 12; an abnormal femoral neck shaft angle in 32;
and degenerative changes in 6. The authors noted that subluxated hips should undergo
early operation, especially in children and in symptomatic adults.

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. 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.
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.
Mller 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. 8,9 Multipotent
mesenchymal cells in the region of the perichondral groove of Ranvier have also been
implicated in the development of osteochondromas.
Langenskild 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. 10 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. 11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29
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. 30,31,32,33,34,35 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 neoplasia36 ; EXTL1 has been localized to 1p36, which is often a site of
deletion in tumors. EXTL3 may be a breast cancer locus.37,38,39
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.40 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.
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. 41 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

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 1050%. 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. 42,43
The severity of forearm involvement in HME has been linked to the overall severity of
the disease. Taniguchi categorized patients into 3 groups 44 : (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. 45
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. 5
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.46

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.47 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 process 48,49 (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.)