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Samia El-Azazb 1
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 CLASSIFICATION
HEREDITARY:
 Osteogenesis imperfecta.
 Osteopetrosis (marble bone disease).
 Achondroplasia.
 Cherubism.
ACQUIRED:
 Developmental.
 Dystrophic.
 Inflammatory bone disease.
 Metabolic and Endocrine Disorders.
 Neoplastic.
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 Osteogenesis imperfecta
 It is a rare hereditary condition.
 There is a defect in connective tissue
development or maturation.
 Clinically:

-Bone weakness (fracture with mild

trauma).
-The condition may become milder with age.
-Patient has blue sclera (the partial visibility
of choroid through the thin sclera).
- Looseness of joints due to laxity of the
ligaments.
- The skin may be thin.
- It may be associated with dentinogenesis
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 Osteogenesis imperfecta

Brown opalescent dentine

(blue sclera) (Dentinogenesis imperfecta)

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 OSTEOPETROSIS
(marble bone disease)
 Rare hereditary bone disease.
 Failure of the osteoclastc activity,
thus no remodeling of the bone.
 Obliteration of the marrow cavities.
 Development of secondary anemia.
 The bone has poor mechanical
properties, thus fractures very
easily.
 Delayed eruption of teeth and
osteomylitis is quite common.
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 Osteopetrosis
It has two types:
Malignant or infantile type:
 Severe bone fragility resulting in multiple
fracture.
 Death usually occurs before puberty.

Benign type:
 Bone changes are less severe and are
diagnosed
late in life.
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 CLEIDOCRANIAL
DYSOSTOSIS
 Rare hereditary bone disease.
 Abnormalities include skull, jaw,
clavicle and dentition.
 The sutures tend to remain open and
the parietal, frontal and occipital bone
remain flat and prominent.
 Partial or complete loss of clavicle
thus individual can bring his shoulders
forward to meet in the midline.

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Oral manifestations of cleidocranial dysplasia
 Normal eruption of deciduous teeth.
 Delayed or failure of shedding of deciduous
dentition tends to be retained.
 Delayed or failure of eruption of permanent
dentition.
 Crowns are conical in shape and show enamel
hypoplasia.
 Roots hooked with absence of cellular
cementum.
 Many un-erupted supernumerary and
supplemental teeth.
 Formation of many dentigerous cysts.
 Maxilla may be under developed with high
arched palate and the mandible looks protruded.
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Cleidocranial dysplasia
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 Achondroplasia
 A hereditary condition
resulted in abnormally
short stature with short
limbs and relatively
long narrow trunk.
 It is a disorder of bone
growth.
 The head is large with
prominence of the
forehead, low nasal
bridge and
underdevelopment of
the midface.
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 CHERUBISM
(Familial Fibrous Dysplasia)
 Fibrous dysplasia is a defect in
osteoblastic differentiation as well
as maturation.
 The individual has a chubby face.

 It is a hereditary bone disease.

 At puppetry, gradual improvement

of the facial contour occurs.

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 Clinical manifestations of
Cherubism
 Age: 2-3 years old.
 Sex: males=females.

 Site: swelling of mandibular angle and rami

bilaterally and symmetrically (thus wide rim of
the sclera is visible as the skin is stretched
over the swelling giving the shape of cherub).
Together with the mandible the maxillary
tuberosity is the next site.
 Dental abnormalities:

There are missing, unerupted and displaced

teeth.
There are premature loss of deciduous dentition.
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 Radiographically
 Bilateral symmetrical multilocular
radiolucent area at the angles of the
mandible and the ascending rami.

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 Histopathological
features
 The original bone is resorped and
replaced by fibrous tissue.
 Within the fibrous tissue there are
large numbers of multinucleated
giant cells.
 The giant cells tend to be grouped
around dilated blood vessels, areas
of haemorrhage and haemosidrin
granules.
 New bone formation is rare.
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 Differential diagnosis
Microscopically, familial fibrous
dysplasia is considered one of
the central giant cell lesions
which include
 Central giant cell tumour.

 Central giant cell granuloma.

 Hyperparathyroidism.

 Aneurysmal bone cyst.

 Paget’s disease of bone.

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 Developmental bone
diseases
Facial fibrous dysplasia
It is a monostotic fibrous dysplasia.
Clinically:
 Age: 3-15 years old.
 Sex: females more than males.
 Site: maxilla more affected than
mandible unilaterally.
 Behaviour: slowly growing and
growth ceases at puberty.
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 The unilateral maxillary swelling
causing the eye to be at a higher
level and leading to proptosis.
 Sloping of the occlusal plane.

 Obliteration of the nasal cavity.

 Obliteration of maxillary sinus.

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 Histopathology
 The original bone is resorbed and replaced by
fibrous tissue.
 Coarse fibred woven bone is deposited as thin
equidistance trabeculae in Chinese letter
appearance.
 The trabeculae not bordered by osteoblasts.
 Few giant cells are present.
 bone formation passes through two stages:
osteoid stage that mineralized to form osseous
stage.
 The formed bone is resorbed and the hall cycle
is repeated.
 In slowly growing lesions woven bone may
mature
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 Radiographic picture of
facial fibrous dysplasia
Differ according to the amount of
bone present:
 Radiograph of periapical or occlusal
views has an orange peel appearance.
 Extra oral film the lesion may appear
as a ground glass appearance or
smoke screen appearance.
 The border of the lesion is diffuse
and ill defined.
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 Dystrophic bone diseases
(Paget’s disease of bone)
(Osteitis deformans)
 Dystrophic diseases are due to fault in
metabolism and turn over (normal
bone is replaced by ill-formed bone).
 Paget’s disease is of unknown cause.
 Clinically: age: after age of 40 years.
Sex: more in males.
Site: skull and maxilla more
than mandible.
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 PAGET’S DISEASE
 Due to the enlargement of the maxillo facial
area the lip are incompetent.
 There is headache, auditory and visual
disturbances, facial paralysis due to the
narrowing of the foramina of the skull
causing compression of the neurological
components.
 Denture wearing patients have problems in
wearing the dentures as the maxilla
progressively enlarges during the course of
this disease.
 In the dentate patients the increased
spacing
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Prof. Samia the loosening of the
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 PAGETS DISEASE
STAGES OF THE DIEASE
 INTIAL RESORPTIVE PHASE: In this phase
there is sudden resorption of the bone

 2ND PHASE THE VASCULAR PHASE: There is

haphazard osteoblastic activity and the
symptoms are more pronounced .

 FINAL OR SCLEROTIC PHASE: Mineralization

of the previously deposited bone matrix
with diminished cellularity and vascularity
of the lesion.

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 HISTOPATHOLOGY
 In the initial resorptive phase there is
osteoclastic bone resorption. The
osteoclastes are multinucleated.
 Resorbed bone has dense vascularized
connective tissue.
 In the second phase there are both
osteolysis and osteogenesis
 There is characteristic mosaic appearance
because of the irregular bone formation with
numerous reversal lines .
 In the final phase there is decrease in
number of osteoclasts with increase number
of the ostoblasts Prof. Samia El-Azazb
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 Paget’s disease of bone

Enlargement of maxilla
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 PAGETS DISEASE
RADIOGRAPHICAL
Haphazard arrangement of the newly
formed bone providing patchy radio-
opaque pattern termed as the “cotton
wool appearance”.
 There may be hypercementosis of the
tooth roots
 There is loss of the lamina dura and
obliteration of the periodontal ligament.

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 Hypercementosis

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DIAGNOSIS:
 There is increase in the alkaline
phosphatase.

COMPLICATIONS:
 Left sided heart failure leading to
death.
 Sarcomatous transformation in 2% of
cases.

TREATMENT:
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