DISEASES OF BONES

Dr. Ayad

BONE CELLS
3 types of cells
1. Osteoblasts: bone-forming (present on surface)
2. Osteocytes: mature, adult, main type (able to form &
resorb bone)
3. Osteoclasts: bone-destroying

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NORMAL STRUCTURE & FUNCTION

Periosteum (dense outer connective tissue layer)
endosteum (lining medullary cavities)
Arranged lamellae are seen in normal healthy bone

Woven bone is haphazard arrangement of lamellae with an

number of osteocytes and is usually present with pathology

Hematopoietic marrow in:

ribs
vertebrae
pelvic bones
most proximal portions of the long bones
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DEVELOPMENT & GROWTH OF BONES

Intramembranous ossification (bones of the skull)

Endochondral ossification (limb bones)

E. Epiphysis
PC. Proliferative Cart.
HC. Hypertrophic Cart.
V. Vascular invasion CC. Calcified Cartilage
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HORMONAL CONTROL
Three main hormones regulate calcium & phosphate

metabolism:
1. Parathyroid hormone bone resorption

2. Calcitonin inhibits movement of calcium from bone

to blood
3. Vitamin D absorption of calcium from the intestines
vitamin D leads to Rickets in children &
Osteomalacia in adults
Dr. Ayad

DISORDERS OF GROWTH & MATURATION

4 different groups:
1. Delayed cartilage maturation disorders
Cretinism
Morquio's disease

2. Bone Modeling disorders

osteopetrosis

3. Epiphyseal plate disorders

Achondroplasia
Scurvy
Asymmetrical cartilage growth
Kyphoscoliosis
Osteomalacia
4. Delayed Bone Maturation disorders
Osteogenesis imperfecta
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CONGENITAL BONE DISORDERS (hereditary)

1- OSTEOGENESIS IMPERFECTA (Ol)
(Brittle bone disease)
Etiology:
Hereditary disorder of collagen synthesis leading to
formation of abnormal lamellar collagen.
A minority of patients do not inherit the disorder (they
think it is due to spontaneous genetic mutation)
. Insufficient synthesis of type I collagen
. Other tissues affected: abnormal dentition
hearing loss
blue sclera
Dr. Ayad

OSTEOGENESIS IMPERFECTA (Ol)

(Brittle bone disease)
Pathology:
Bone: decreased synthesis of collagen type I (principal
component of osteoid tissue)
reduced bone formation

thin cortex
+
rarefaction of trabeculae (light, less dense)

pa pathological fractures
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OSTEOGENESIS IMPERFECTA (Ol)

(Brittle bone disease)

Dr. Ayad

OSTEOGENESIS IMPERFECTA (Ol)

(Brittle bone disease)
Prevalence:
Estimate range from 20,000 to 50,000
Treatment:
- No cure for OI
- A surgical procedure called rodding is frequently considered for
individuals with OI by inserting metal rod through the length of
long bones to strengthen them & prevent &/or correct deformity.
- Exercise as much as possible to promote muscle & bone strength.
- maintain healthy weight, nutritious diet, avoid smoking, excessive
alcohol and caffeine consumption & taking steroid medications (all
of which may deplete bone & exacerbate bone fragility)
Source:
http://www.osteo.org/newfile.asp?doc=i101i&doctitle=Fast+Facts+on+Osteogenesis+Imperfecta
&doctype=HTML+Fact+Sheet
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2- OSTEOPETROSIS
(Alber's Schnberg disease) or
"Marble bone disease"

Hereditary abnormality of osteoclasts (rare disease)

Overgrowth and sclerosis of bones

increased

density of the skeleton

Obliteration in the medullary cavity

anemia

Despite the "too much" bone, it breaks easily

(pathological fractures)
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OSTEOPETROSIS

(Alber's Schnberg disease) or "Marble bone

disease"
Less bone resorption resulting in a net bone
overgrowth
Bone deformities and nerve compression
manifestations (reduction of neural foramina, deafness)
Two patterns:
1. Malignant, become evident in-utero and infancy ,
autosomal recessive
2. benign, adult, autosomal dominant
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A. X-ray (misshaped & dense bone of lower extrimities)

B. Obliteration of the bone marrow
C. Disorganization of bony trabeculae (containing core of
calcified cartilage) Dr. Ayad

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3- ACHONDROPLASIA
. Decreased cartilaginous growth

. Dwarfism

. Long bones are short and relatively thick

Epidemiology:
- It is the most common of a group of growth defects characterized by
abnormal body proportions
- Only 20% of cases have a positive family history
- 80% is thought to be due to genetic mutation
- 1 in every 20,000 live births
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3- ACHONDROPLASIA
Manifestations:
- Normal membranous ossification normal skull,
facial bones & axial skeleton
- Limbs much shorter than normal
- Narrow foramen magnum and spinal canal may
accumulation of too much fluid in brain
(hydrocephalus)
- High risk of repeated middle ear infection hearing
loss
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3- ACHONDROPLASIA

Traetment:
- There is no specific treatment for achondroplasia.
- Related abnormalities, including spinal stenosis and spinal
cord compression, and hydrocephalus should be treated
when they cause problems.
Prognosis:
- Most can live normal life span with careful attention to

dangerous complications.
Prevention:
- genetic counseling
Source: http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm#Treatment
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3- ACHONDROPLASIA

Dwarfism

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Normal growing epiphyseal plate

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The epiphyseal (growth) plate

of an achondroplastic dwarf
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4-Osteochondroma
(Hereditary Multiple Exostosis)
Features
- benign masses

Development defect in epiphyseal cartilage of long bone,

grows laterally in soft tissue

Mass formed of outer hyaline cartilage, cortex &

medullary cavity in continuity with those of long bone

Growth stops when epiphysis closes off

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Manifestations:
1. Either solitary (mostly) or multiple (inherited,
autosomal dominant)
2. Diagnosed in children (multiple) & young adults,
(solitary)
3. Men are affected 3 times more than women
4. Mushroom-shaped mass, 3-5 cm

5. Asymptomatic or symptomatic: deformity, pressure

6. Malignant change (< 1%)
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Schematic of the development over time an

osteochondroma, beginning with an outgrowth from
the epiphyseal cartilage.

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Osteochondroma, gross and radiograph

This is an osteochondroma of bone. This lesion appears as a
bony projection (exostosis). Most are solitary, incidental
lesions that may be excised if they cause local pain.

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Osteochondroma. The cross-sectional appearance of

an osteochondroma shows the cap of calcified
cartilage overlying poorly organized cancellous bone.

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Osteochondroma, microscopic
The microscopic appearance of an osteochondroma displays
the benign cartilagenous cap at the left and the bony cortex at
the right. This bone growth, though benign, can sometimes
cause problems of pain and irritation that leads to removal
surgically.

Dr. Ayad

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