Bones and Soft Tissue - Clinical Gate
Bones and Soft Tissue - Clinical Gate
Bones and Soft Tissue - Clinical Gate
25.2 Joints270
25.3 Connective tissue diseases274
25.4 Soft tissue tumours276
Self-assessment: questions277
Self-assessment: answers279
Chapter overview
Within the osteoarticular system, the bones provide structural support for the body and have
an important role in mineral homeostasis and haematopoiesis, and the joints permit
movement. Disorders of the osteoarticular system can, therefore, cause significant disability
and deformity. Most of the more common disorders such as osteoarthritis, osteoporosis and
rheumatoid arthritis are chronic and progressive, causing significant morbidity among the
general population, especially the elderly. Bone tumours affect all age groups, show marked
diversity in their behaviour and different types target particular age groups and anatomic sites.
Connective tissue diseases form an important group of multisystem disorders, and they are
presented here because a feature common to most of them is their propensity to involve the
joints and soft tissues. ‘Soft tissue tumours’ form a highly heterogeneous group of neoplasms
that are important because benign tumours are relatively frequent and sarcomas are often
highly aggressive.
25.1. Bone
Learning objectives
You should:
• Structural support.
• Protective. The skull and the vertebral column protect the brain and spinal cord respectively.
The ribs protect the thoracic and upper abdominal organs to a lesser degree.
• Mineral homeostasis. Bone is a reservoir for the body’s calcium, phosphorus and
magnesium.
• Haematopoiesis. Under normal conditions in the adult, bone is the sole site of haematopoietic
marrow.
Bone is a special type of connective tissue, which is mineralised, and therefore has an organic
and inorganic component. The organic component is the connective tissue matrix composed
predominantly of type I collagen. The organic matrix undergoes mineralisation by the
deposition of the mineral calcium hydroxyapatite. This mineral is the inorganic component of
bone. Mineralisation gives bone its strength and hardness. Unmineralised bone is called
osteoid. Bone formation, maintenance and remodelling is performed by the bone cells, of
which there are three main types:
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• Osteoblasts – these cells are responsible for bone formation. They synthesise the type I
collagen that forms osteoid, and also initiate the process of mineralisation.
• Osteoclasts – these are multinucleate cells responsible for bone resorption.
• Osteocytes – evidence suggests that these cells have an important role in the control of the
daily fluctuations in serum calcium and phosphorus levels and the maintenance of bone.
Bone can be formed quickly or slowly. When bone is formed quickly, such as in fracture repair
or fetal development, the osteoblasts deposit the collagen in a random weave arrangement.
This type of bone is called woven bone. Woven bone is replaced by lamellar bone, which is
formed much more slowly.
In lamellar bone, the collagen is arranged in parallel sheets. Lamellar bone can also form
without a woven bone framework. There are two types of mature lamellar bone:
• Cortical (compact) bone – this is composed of numerous units called haversian systems. In
each haversian system the lamellar bone is arranged concentrically around a central canal
called the haversian canal, through which arteries and veins run.
• Cancellous (spongy) bone – this consists of lamellar bone arranged in a meshwork of bone
trabeculae.
Most bones are tubular, hollow structures that consist of a shaft, called the diaphysis,
expanded end regions, called the epiphyses, and a region between the diaphysis and each
epiphysis, called the metaphysis (Figure 69). The sleeve-like tube (or cortex) of each bone is
composed of compact sheets of cortical bone. The inner portion of bone is not quite hollow
and is called the medulla. The medulla contains cancellous bone, connective tissue, nerves,
blood vessels, fat, and haematopoietic tissue. All bones are covered by a periosteum
composed of connective tissue.
Figure 69
Parts of a bone.
renewed and remodelled, which requires the actions of the osteoblasts and osteoclasts to be
in equilibrium. By the third decade, osteoclastic resorption begins to predominate, with a
resultant steady decrease in skeletal mass.
Developmental disorders
Achondroplasia
Achondroplasia is a major cause of dwarfism, and is due to mutation of a single gene. The
condition can be familial, with autosomal dominant inheritance, or sporadic. The defective
gene leads to abnormal ossification at the growth plates of bones formed by endochondral
ossification. Intramembranous ossification is unaffected. Affected individuals have a
characteristic appearance, with shortening of the proximal extremities, a relatively normal-
sized trunk, and a disproportionately large head with typical bulging of the forehead and
depression of the nasal bridge.
This is a rare group of genetic disorders that have in common the abnormal synthesis of type I
collagen. In addition to bone, the other tissues rich in type I collagen are tendons, ligaments,
skin, dentine and sclera. Affected individuals have brittle bones and spontaneous fractures
may occur. The sclera appears blue because it is so thin that the underlying uveal pigment
becomes visible. Some variants of osteogenesis imperfecta are fatal early in life while others
are associated with survival.
Acquired disorders
Osteoporosis
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The major complication of osteoporosis is bone fracture. The sites most commonly affected
are the vertebral bodies, the distal radius (Colles’ fracture) and the hips. Fractures of the
vertebral bodies can be of the ‘crush’ variety leading to progressive loss of height and
considerable pain, or of the ‘wedge’ variety causing deformity of the spine (kyphosis). Hip
fractures are important because they cause major disability and lead to hospital admission.
Secondary complications such as pneumonia and pulmonary thromboembolism are common
with hip fractures, and account for the high mortality rate associated with hip fractures.
Treatment
Women who take hormone replacement therapy have a reduced risk of developing post-
menopausal osteoporosis. Also, oral bisphosphonates and vitamin D may be effective.
Aetiology
There are two main sources of vitamin D – dietary and endogenous. Consequently, there are
four main causes of osteomalacia:
Clinicopathological features
The basic abnormality is deficient mineralisation of the organic matrix of the skeleton. In
children, the skeleton becomes deformed because there is reduced structural rigidity and
inadequate ossification at the growth plates. In pre-ambulatory infants, there is flattening of the
occipital bones, and in ambulatory children, bowing of the legs and lumbar lordosis are
characteristic. A pigeon breast deformity may develop due to the forces incurred on the
weakened bones of the chest during normal respiration. Excess osteoid may cause frontal
bossing of the head. Inadequate calcification of the epiphyseal cartilage in long bones leads to
Masterplates,
cartilaginous overgrowth at the growth Medicine General
resulting and Systematic
in localised Pathology
enlargement, which is seen
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especially at the wrists, knees and ankles. Overgrowth of the cartilage at the costochondral
junctions of the chest results in an appearance that is referred to as a ‘rachitic rosary’.
In adults, the osteoid that is laid down in the remodelling of bone is inadequately mineralised.
The shape of the bone is usually not affected, but the bone becomes vulnerable to
spontaneous fractures. Looser zones (pseudofractures) are the hallmark of osteomalacia, and
they appear on X-rays as transverse linear lucencies perpendicular to the bone surface.
Persistent inadequate mineralisation may eventually lead to generalised osteopenia.
• bone pain
• fractures
• neuropathies
• deformities
• deafness
• high-output heart failure
• osteosarcoma and other bone tumours.
The usual presenting features are bone pain, deformities and fractures. The axial skeleton,
skull and proximal femur are involved in the vast majority of cases. Pain is a common problem,
and is localised to the affected bone. Deformities are most common when the skull is involved,
resulting in enlargement of the head with protuberance of the frontal lobes and lion-like
(leonine) facies. When the long bones of the lower extremities are involved, weight-bearing
leads to anterior bowing of the legs. Fractures occur most commonly in the long bones of the
legs, and ‘crush’ fractures of the spine may lead to spinal cord injury and kyphosis.
The spinal cord and nerve roots are also at risk of compression due to enlargement of the
vertebral bodies. Distortion of the middle ear cavity and VIIIth nerve compression may lead to
deafness. Other cranial nerves may be affected by compression. The bones in Paget’s disease
are extremely vascular, and the subsequent increased blood flow can (rarely) lead to high-
output heart failure. Paget’s disease may be complicated by the development of bone tumours,
the most sinister being osteosarcoma.
Paget’s disease may be detected incidentally on X-ray or become manifest through the
development of typical clinical features. Intense osteoblastic activity means that affected
individuals have raised serum alkaline phosphatase levels. Treatment is with calcitonin and
bisphosphonates.
Osteomyelitis
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Osteomyelitis refers to inflammation of the bone and marrow, and is usually the result of
infection.
Aetiology
Organisms may gain access to the bone by bloodstream spread from a distant infected site, by
contiguous spread from neighbouring tissues, or by direct access via a penetrating injury.
Almost any organism can cause osteomyelitis, but those most frequently implicated are
bacteria. Staphylococcus aureus is responsible for many cases. Patients with sickle cell
disease are predisposed to Salmonella osteomyelitis. Mycobacterium tuberculosis is
sometimes implicated.
Pathogenesis
The location of the lesions within a particular bone depends on the intraosseous vascular
circulation, which varies with age. In infants less than a year old, the epiphysis is usually
affected. In children the metaphysis is usually affected, and in adults the diaphysis is most
commonly affected.
In acute osteomyelitis, once the infection has become localised in bone, an intense acute
inflammatory process begins. The release of numerous mediators into the haversian canals
leads to compression of the arteries and veins, resulting in localised bone death
(osteonecrosis). The bacteria and inflammation spread via the haversian systems to reach the
periosteum. Subperiosteal abscess formation and lifting of the periosteum further impairs the
blood supply to the bone, resulting in further necrosis. The dead piece of bone is called the
sequestrum. Rupture of the periosteum leads to formation of drainage sinuses, which drain
pus onto the skin. If osteomyelitis becomes chronic, a rind of viable new bone is formed
around the sequestrum and below the periosteum. This new bone is called an involucrum. An
intraosseous abscess, called a Brodie abscess, may form.
Acute osteomyelitis presents with localised bone pain and soft tissue swelling. If there is
systemic infection, patients may present with an acute systemic illness. Presentation may be
extremely subtle in children and infants, who may present only with pyrexia (pyrexia of
unknown origin, PUO). Characteristic X-ray changes consist of a lytic focus of bone
surrounded by a zone of sclerosis. Treatment requires aggressive antibiotic therapy.
Inadequate treatment of acute osteomyelitis may lead to chronic osteomyelitis, which is
notoriously difficult to manage. Surgical removal of bony tissue may be required.
Avascular necrosis
This is necrosis of bone due to ischaemia. Ischaemia may result if the blood supply to a bone
is interrupted, which may occur if there is a fracture particularly in areas where blood supply is
suboptimal (e.g. the scaphoid and the femoral neck). Most other cases of avascular necrosis
are either idiopathic or follow corticosteroid administration.
Bone tumours
Primary bone tumours are uncommon. They can generally be classified according to whether
they are cartilage-forming or bone-forming.
Osteochondroma (exostosis)
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Osteochondromas are cartilage-capped bony outgrowths, which most frequently occur near
the metaphysis of long bones. Affected individuals are usually less than 20years of age.
Exostoses are usually solitary. Malignant change is very rare.
Chondroma (enchondroma)
Chondromas are cartilaginous tumours that usually arise within the medullary cavity of the
bones of the hands and feet. They occur most frequently in the third to fifth decades of life.
The lesions can sometimes cause localised pain, swelling, tenderness or pathological fracture.
X-rays show the characteristic ‘O-ring’ sign – oval-shaped radiolucent cartilage surrounded by
a dense rim of bone. Most chondromas are solitary. Malignant change is extremely rare.
Other rare benign cartilage-forming tumours are chondroblastomas and chondromyxoid
fibromas.
Chondrosarcoma
Chondrosarcoma is the second most common primary tumour of bone, being half as frequent
as osteosarcoma. Chondrosarcomas occur most frequently in the trunk bones (ribs, spine and
pelvis). A few develop within pre-existing osteochondromas, chondroblastomas, or bones
affected by Paget’s disease. They present as painful enlarging masses, and their nodular
growth pattern gives them a scalloped appearance on X-ray. Most chondrosarcomas are low
grade, and therefore pursue a relatively indolent course. However, high-grade tumours
metastasise in 70% of cases, usually to other parts of the skeleton or the lungs.
Osteoma
These are bosselated tumours of bone, which most frequently occur in the skull and facial
bones. Symptoms depend on the site at which they occur, e.g. symptoms due to obstruction of
paranasal sinuses, symptoms related to impingement on the brain.
Osteoid osteoma
These round tumours consist of a small central area (called the ‘nidus’) surrounded by dense
sclerotic bone. Affected individuals are usually less than 25years old. The lesions are
characteristically painful.
Osteosarcomas
These are the commonest primary malignant tumour of bone, and they usually affect young
adults. The metaphysis of long bones are the most frequently affected sites, particularly the
distal femur. They present as painful enlarging masses. The tumours usually penetrate the
bone cortex, causing elevation of the periosteum. This produces the characteristic triangular
shadow (Codman triangle) seen on X-ray, formed by the bone cortex and the elevated ends of
the periosteum. Patients with hereditary retinoblastoma are at significantly increased risk of
developing osteosarcomas. Mutations in the p53 gene have also been implicated in some
cases. A few cases are secondary to Paget’s disease or previous radiation. These aggressive
tumours can metastasise widely, especially to the lungs, but due to advances in treatment, the
5-year survival has improved to around 50%.
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Ewing’s sarcoma
This tumour is composed of small, round, darkly staining cells, which are now believed to be
neuroectodermal in origin. The tumour affects children and adolescents, the average age at
presentation being 10–15years. The pelvis and the diaphysis of long bones are the most
frequently affected sites. The tumour presents as a painful enlarging mass, and some patients
may have systemic features such as a fever, raised white cell count, or raised erythrocyte
sedimentation rate (ESR). Treatment with radiotherapy and chemotherapy has drastically
improved survival rates.
Fibroblastic tumours
Although fibroblastic tumours such as malignant fibrous histiocytomas and fibrosarcomas more
frequently arise within soft tissues, they can also occur in bones. A quarter of cases are
secondary to pre-existing conditions such as Paget’s disease, radiation, or bone infarct. The
prognosis for high-grade tumours is poor.
The commonest malignant tumours of bone are secondary deposits from other sites. Most
skeletal secondary deposits originate from malignancies at the following sites:
• lung
• breast
• thyroid
• kidney
• prostate.
These deposits cause osteolytic lesions to the bone, with the exception of secondaries
originating from prostate tumours, which cause osteosclerotic lesions.
25.2. Joints
Learning objectives
You should:
• Solid joints – these joints are fixed and rigid, and allow only minimal movement. Examples
of solid joints include the skull sutures (where the skull bones are bridged by fibrous tissue)
and the symphysis pubis (where the bones are joined by cartilage).
• Synovial joints – these joints have a joint space, which allows a wide range of movement.
The articular cartilage in synovial joints is a specialised hyaline cartilage, which is an excellent
shock absorber. The synovial membrane secretes synovial fluid into the joint space. Synovial
fluid acts as a lubricant and provides nutrients for the articular hyaline cartilage (Figure 70).
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Figure 70
A synovial joint.
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Atherosclerosis and
thrombosis
Female breast
Cell injury
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