‫اﻟﺮﺣﻤﻦ اﻟﺮﺣﻴﻢ‬ ‫ﺑﺴﻢ ا‬

Bone lesions
Lecture 1
GENETIC DISEASES OF BONE
1.OSTEOGENESIS IMPERFECTA.
2.OSTEOPETROSIS.
3.CLEIDOCRANIAL DYSPLASIA.
4.CHERUBISM.
OSTEOGENESIS IMPERFECTA
In this disease there is defect in the development
of collagen fiber type I and osteoblast do not
form bone in adequate amounts, leading to
fracture.
The bones are thin and lack the usual cortex of
compact bone . Many fractures can cause
sever deformity. The sclera of the eyes may
also appear blue. Deafness and joint
hypermobility also develops but otherwise, the
majority have good health. Obvious
dentinogenesis imperfecta is sometime
associated .
OSTEOPETROSIS
(MARBLE BONE DISEASE)
Is a rare genetic disease in which the bone is
solidified and dense but brittle. There is
inactivity of osteoclasts and absence normal
modelling resorption , medullary spaces are
minute. Anemia is common and defective
white cells can lead to abnormal
susceptibility to infection. Bone fracture and
/or tooth fracture during tooth extraction ,
osteomyelitis,
The effective treatment is by marrow
transplantation.
CLEIDOCRANIAL DYSPLASIA
There is defective
formation of the
clavicles, delayed
closure of fontanelles
and sometimes
retrusion of the maxilla,
partial or complete
absence of clavicles
allows the patients to
bring the shoulders
together in front of the
chest.
Patients show delayed
eruption and impaction
of many of the
permanent dentition
CHERUBISM
CLINICAL FEATURES
Cherubism causes multiple multilocular bone
lesions in the mandible and maxilla that start in
childhood enlarge and then regress.
The onset is in children, symmetrical swelling are
noticed in the region of the angles of the
mandible this give the face an excessively
chubby appearance, the teeth are displaced
and may be loosened . Extensive maxillary
lesion cause the eyes to appear to be turned
heavenward, this together with the plumpness
of the face, is the reason for these patients to
be likened to cherubs.
CHERUBISM
CLINICAL FEATURES
CHERUBISM
RADIOGRAPHIC FEATURES
The lesion simulate multilocular cysts .
CHERUBISM
HISTOPATHOLOGICAL FEATURES
There is mass of proliferating vascular connective
tissue packed with giant cells(osteoclast) signs
of bleeding into the mass and deposits of
haemosiderin are frequently seen. With the time
the number of giant cells is reduced
CENTRAL GIANT CELL GRANULOMA
CLINICAL FEATURES

Usually seen in young patient under 20 and

in female twice as frequently as male
and mandible anterior to the first molar
is the usual site. The lesion is either :
non – aggressive type: which appear as
slowly growing and painless.
aggressive type: which appear as rapidly
growing and destructive and painful .
 CENTRAL GIANT CELL
GRANULOMA
RADIOGRAPHIC FEATURES
Show a round cyst- like radiolucent area.
Either unilocular or multilocular (soap-
bubble) appearance.
 CENTRAL GIANT CELL GRANULOMA
HISTOPATHOLOGICAL FEATURES
It form a lobulated mass
of proliferating vascular
connective tissue
packed with giant cells
(osteoclast) signs of
bleeding into the mass
and deposits of
haemosiderin are
frequently seen.
Fibroblastic proliferation
or prominent osteoid
are common
PRIMARY HYPERPARATHYROIDISM
(BROWN TUMOR)
CLINICAL FEATURES
Is usually caused by hyperplasia or adenoma of
the parathyroids, but is uncommon.
Overproduction of parathormone (PTH)
mobilises calcium and raises the plasma
calcium level. Post-menopausal women are
mainly affected, the major symptoms are
urinary stone, bone disease may be seen like
joint stiffness and cyst-like swelling of the jaw
bones. Sometime bone lesion cause
pathological fracture .
Secondary hyperparathyroidism is more
frequently cause osteolytic bone lesion than
primary hyperparathyroidism
PRIMARY HYPERPARATHYROIDISM
RADIOGRAPHIC FEATURES
The main effect is thinning of the bone
trabeculae and radiolucent cyst-like
area (osteitis fibrosa cystica) often
with multilocular appearance are
found.
PRIMARY HYPERPARATHYROIDISM
HISTOPATHOLOGICAL FEATURES

Consist of foci of osteoclast in a highly vascular

stroma, extesive haemosiderin deposits cause
the lesion to appear as brown lesion. The foci
are indistinguishable from central giant cell
granuloma, only by blood chemistry:
1-Raised plasma calcium
2-Raised plasma alkaline phosphatase
3-Low plasma phosphate
4-Raised plasma parathyroid hormone
FIBROUS DYSPLASIA
Is a non- neoplastic disorder of bone in which the
normal bone is replaced by weakly formed
fibrous and osseous tissue. The exact etiology
is unknown but recently they found a mutation
in GNAS 1 gene. The disease is divided in to :
1. Monostotic fibrous dysplasia (monostotic FD)
2. Polyostotic fibrous dysplasia (polyostotic FD)
Involve the head and neck in up to 50%
of cases.
a: Albright’s syndrome
b: Jaffe’s disease
FIBROUS DYSPLASIA
CLINICAL FEATURES
1. Monostotic fibrous dysplasia:
Is the commonest form, it gives rise to a
bony swelling caused by poorly
circumscribed area of fibro-osseous
proliferation, typically starts in
childhood, the jaws are the most
frequent sites in the head and neck, the
lesion appear as painless smoothly
rounded swelling usually of the maxilla,
and when lesion extended to involve the
orbit, base of the skull called
craniofacial fibrous dysplasia.
Monostotic fibrous dysplasia
2. Polyostotic fibrous dysplasia:
a-Albright’s syndrome:
Polyostotic FD is rare and unlike monostotic FD
female affected more than male. In which most
of the body bones are affected showing swelling
and deformities and malocclusion with skin
pigmentation (café-au-lait) and endocrine
abnormalities. Endocrine dysfunction is usually
manifest as precocious puberty skin
pigmentation consist of brownish macules

b-Jaffe’s disease:
it’s type of polyostotic FD in which more than one
bone are affected but most of the skeleton are
normal with skin pigmentation.
FIBROUS DYSPLASIA
RADIOGRAPHIC FEATURES
The features depend on the stage, early lesion are
radiolucencies but develop into weak radiopacities,
with a ground glass or fine- orange peel stippling as
lesion mineralises with ill defined border .
FIBROUS DYSPLASIA
HISTOPATHOLOGICAL FEATURES
The lesion consist of
loose cellular fibrous
tissue containing
slender and irregular
trabeculae (chinese
letter) of woven bone
of variable shape
which with brush
border, osteoblasts are
scattered through out
the substance of the
trabeculae rather than
surrounding them and
the lesion is diffused
with the surroundind
normal bone.