Bone Dysplasia

Most Dysplasia are familial and patients are short enough to be categorized as dwarfs (less than 125cm).

Metaphyseal Aclasis (Hereditary Multiple Exostoses) SEE OSTEOCHONDROMA

Osteoporosis
Osteoporosis is characterized by a reduction in the amount of bone substance in the skeleton.
Aetiology:
Primary (idiopathic) osteoporosis Secondary Osteoporosis
 Old age  Hyperparathyroidism
 Female gender  Hyperthyroidism
 Sedentary lifestyle  Cushing’s syndrome and long-term
 Menopause before age 45 steroid therapy
 Tobacco and alcohol excess  Calcium, vit D or vit C deficiency
 Fair skin

Pathology:
 Normally the bone mass diminishes slowly but steadily from the age of 40. This process becomes
markedly accelerated around menopause.
 The result is reduced bone density which makes them vulnerable to fractures after trivial trauma
 There are no demonstrable metabolic changes
Clinical Features:
 The disease itself is usually symptomless or repeated fracture on minor trauma in vertebrae, causing
back pain
Investigations:
 Dual-energy X-ray absorptiometry (DXA or DEXA scan)
 Plain X-ray is not as sensitive. It shows reduced bone density only when bone loses 40-50% of
their substance
Prevention
 Balanced diet, Calcium and Vit-D, Regular exercise, avoidance of alcohol and smoking
Treatment
Primary Osteoporosis Secondary Osteoporosis
 Calcium 1500mg/day, Vitamin D 400  Treatment of the cause
U/day, Fluoride, Calcitonin reduces bone
resorption by reducing osteoclastic
activity, Bisphosphonates also inhibit
osteoclastic activity
 Hormone replacement therapy (HRT) for
menopausal women
 Treatment of Complications: Fractures are treated according to their location and type.
Hyperparathyroidism
(SEE ENDOCRINE)

Osteoarthrosis (Osteoarthritis)
Osteoarthrosis is a common degenerative joint disease
Aetiology:
 Primary osteoarthrosis in which there is no obvious cause
 Secondary Osteoarthrosis following abnormalities such as trauma, deformity, avascular necrosis
(Perthes’ disease) or torn meniscus
Pathology:
 Osteoarthrosis results from an imbalance between the stress and articular cartilage.
 Structural damage follows. It’s cardinal features are:
 Progressive cartilage destruction, Subarticular cyst, osteophytes and Capsular fibrosis
Clinical Features
Symptoms
 Patients usually present after middle age
 Pain and stiffness are the main symptoms
 Pain is worse on movement and by change of weather
 Stiffness is most marked in the morning and gets less by the end of the day
 Symptoms typically follow an intermittent course with periods of remission
 The disease particularly affects weight-bearing joints such as the hips and knees
Signs
Examination may reveal
 Join swelling due to effusion and thickened synovial membrane
 Tender joint line
 Restricted range of movement
 Deformity
 Coarse crepitus detected during movement

Investigations
Plain X-ray reveals the characteristic changes
 Narrowing of the join space
 Subarticular sclerosis
 Bone cysts
 Marginal osteophytes
Sclerosis and osteophytes distinguish this disease radiologically from rheumatoid arthritis in which the
predominant radiological feature is bone loss
Treatment:
Conservative treatment is advised in early stages
 Load reduction can be achieved by a walking stick, the avoidance of prolonged stressful activity and
by weight reduction
 Pain relief by analgesics and anti-inflammatory agents
 Joint mobility can be often improved by physiotherapy to overcome contractures and to strengthen
surrounding muscles.
Surgical treatment
Total joint replacement

Charcot Osteoarthropathy (neuropathic arthritis)

Pathology:
 This is a rapidly progressive degeneration in a joint which lacks deep sensations
 The most frequent cause is diabetic peripheral neuropathy. Other causes include
meningomyelocele, spinal cord injury, leprosy and syphilitic tabes dorsalis
Clinical Features:
 The patient complains of painless joint swelling, deformity and instability
 On examination, there are usually joint effusion and abnormal joint mobility. Signs of accompanying
neuropathy are present, as anesthesia, lost tendon jerks and penetrating ulcers of the foot
Investigations:
An x-ray shows gross bone destruction, widening of joint spaces and the joint is often subluxated or
dislocated. Sometimes irregular calcified masses in the capsule are seen.

Treatment:
 The underlying condition may need treatment, but the affected joints cannot recover
 Conservative treatment is applied to the majority of cases. The joint is stabilized by a padded cast to
minimize deformity. A special footwear and reduction of weight bearing may be helpful.
 Surgery is infrequently required. Amputation and fitting a prosthesis may be indicated in cases of
severe deformities that render the limb useless