Diseases of Bone manifested in the jaws

Diseases of Bone manifested
in the jaws
M. Mupparapu,DMD
Division of Oral & Maxillofacial Radiology
Department of Diagnostic Sciences
m.mupparapu@umdnj.edu
Benign
Malignant
1.Eosinophilic Granuloma
[onion skin periosteal Rxn]
2.(Unicameral bone cystrare)
1.LEUKEMIA
2.METASTATIC
NEUROBLASTOM
A
3.Letterer-Siwe
disease
1.Osteomyelitis
2. Healing/ stress
fracture
3. Cherubism
6-18 yrs
1.Unicameral Bone Cyst
2.Aneurysmal Bone Cyst
3.Nonossifying Fibroma
4.Eosinophilic Granuloma
5.Enchondroma
6.Chondroblastoma
7.Chondromyxoidfibroma
8.Osteoblastoma
9. Juvenile Ossifying fibroma
1.Ewing’s sarcoma
2.Osteosarcoma
1.Osteomyelitis
2.Fibrous dysplasia
3.Central Giant Cell
Granuloma
1.Giant cell tumor
2.Aneurysmal Bone Cyst
3.Eosinophilic granuloma
4.Ossifying fibroma
1. Ewing’s sarcoma
1. PCD
2.Secondary
hyperparathyroidism
1.Metastases
(lung, breast,
prostate, renal,
thyroid, colon)
2.Multiple
Myeloma
3.Lymphoma
4.Osteosarcoma
5.Chondrosarcoma
6.Fibrosarcoma
7. Histiocytoma
1.Hyperparathyroidis
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2.Osteomyelitis
3.Paget's disease
4.FCOD
40+ yrs
Fibrous dysplasia
Periapical cemental dysplasia (PCD)
Florid cemento-osseous dysplasia(FCOD)
Cemento-ossifying fibroma
Aneurysmal bone cyst
Cherubism
Paget’s disease
Langerhan cell histiocytosis
Other
Birth- 5 yrs
19- 40yrs
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Fibrous dysplasia
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Results from localized
change in normal bone
metabolism
results in replacement of all
components of cancellous
bone by fibrous tissue
containing varying amounts
of abnormal appearing bone
Monostotic, polyostotic (Jaffe
type) and associated with
McCune- Albright syndrome
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Monostotic form accounts for
70% of all cases
The occurrence in the order
of decreasing frequency
– Ribs
– Tibia
– Femur
– Maxilla and
– Mandible
Maxilla:mandible 2:1 occurs
in the posterior aspect
Unilateral involvement
Fibrous dysplasia
• Current definition: It is a benign
neoplasm with a low grade malignant
potential
• Somatic mutations within the GNAS 1
gene
• Patients with Albrights syndrome –
associated with pituitary adenomas,
have malignant potential
• Polyostotic fibrous
dysplasia
• One or more
endocrine
abnormalities
• Café au lait
pigmentation
Café au lait pigmentation
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Radiographic features
1. Affects maxilla more
than mandible 2:1
2. Ill-defined periphery with
gradual blending of
normal trabecular bone
into an abnormal pattern
3. On occasion, the
boundary appears sharp
and even corticated
4. The abnormal
trabeculae are shorter,
thinner, irregularly
shaped and more
numerous which creates
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Radiopaque appearances
varying from “ ground glass”
to “orange peel’ to a wispy
“cotton wool” appearance
6. Small lesions do not show
any effect on surrounding
structures
7. Thinning of outer cortex is
observed
8. Displaces mandibular canal in
a superior direction
9. 0.5% of patients with FD may
develop osteosarcoma
10. 4% of patients with McCune
Albright syndrome may
develop Osteosarcoma
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Case report
• A.R., a 40-yr- old
Nigerian male
• Referred to the NJDSOMFR clinic for
radiographic exam of
the mandible
• Chief complaint:
occasional pain in the
left jaw and shoulders
for approximately 3 yrs
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Panoramic view
Affect on adjacent structures
D/D
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Sphenoid sinus involvement
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Hyperparathyroidism. Polyostotic, bilateral and do not cause
bone expansion [Exception- Secondary HP]
Paget’s disease. May produce similar bone pattern, may cause
expansion but occurs in an older age group. The entire
mandible is involved
PCD. Occasionally may show a similar bone pattern + occurs in
older age group
Osteomyelitis. May result in the enlargement of the jaws, but the
additional bone is laid down on the surface of the outer cortex
Osteogenic sarcoma. May have a similar appearance but should
show malignant radiologic features.
Ethmoid sinuses
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Genetics/Diagnosis
GNAS 1 +ve. GNAS 1 mutations are also seen
in thyroid adenomas, osteosarcoma, breast
ca and some other malignancies
High levels of C-Fos proto-oncogene
expression. This is positive in both fibrous
dysplasia and osteosarcoma
Secondary Hyperparathyroidism
[Alport Syndrome]
• Genetic cause of renal failure. X-chromosome linked.
Gene mutation causes abnormalities in type IV
collagen leading to abnormal accumulation of type V
and type VI, that in turn leads to permeability
problems within the kidney leading to SCLEROSIS
• Renal sclerosis>>> Chronic Renal Failure
• Decreased production of vitamin Dlower calcium
levels and increased serum phosphate levels
• Eventually leading to HYPERPARATHYROIDISM
• Compensatory anemia, osteomalacia, osteitis fibrosa
cystica and secondary hyperparathyroisim
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Periapical Cemental Dysplasia
PCD Vs Cementoblastoma
& Osteoblastoma
Simple bone cyst and FCOD
Florid Cemento-osseous dysplasia
•FOD lesions are bilateral and present in both jaws.
•Lesions in the mandible occur above the inferior
alveolar canal
•Periphery is very similar to PCD
•May have cotton wool appearance
•FOD lesions can displace inf alveolar canal inferiorly and
the floor of the maxillary sinus superiorly
D. MacDonald-Jankowski
Florid cemento-osseous dysplasia: a
systematic review
Dentomaxillofac. Radiol., May 1, 2003;
32(3): 141 - 149
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Cemento-ossifying fibroma
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Highly cellular, fibrous tissue that contains varying amounts of
abnormal bone or cementum- like tissue
Soft tissue capsule is present around the lesion
Juvenile ossifying fibroma, an aggressive form of COF occurs in
the first two decades of life
Teeth are displaced
Well defined borders, separated from the normal bone by a thin
radiolucent line representing a fibrous capsule
Advanced Imaging: CT
Giant cell lesions
Aneurysmal Bone Cyst
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A reactive lesion of bone
Resembles CGCG due to the histologic presence of the giant cells
ABCs may develop in association with other primary lesions such as
fibrous dysplasia, central hemangioma, giant cell granuloma and
osteosarcoma.
Occurs in individuals <30 yrs, mostly females
Rapid bony swelling, painful
Mandible to maxilla 3:2, molar region > anterior region
Well defined periphery, circular
Multilocular and septate resembling Central Giant Cell Granuloma
Extreme expansion of outer cortical plates
ABCs can displace and resorb teeth
A hemorrhagic aspirate favors the diagnosis of ABC
Advanced imaging: CT
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Cherubism
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AKA- Familial fibrous dysplasia
A rare inherited developmental abnormality that causes bilateral
enlargement of the jaws giving the child a cherubic facial appearance.
Researchers isolated the gene responsible – chromosome 4p16
Lesions grow in the postero-anterior direction
Bilateral multilocular lesions, well defined periphery
Ramus/tuberosity region epicenter of the lesions
Lesions get filled in with granular bone after the active phase ends
Cosmetic recontouring recommended
Tiziani V*, Reichenberger E*, Buzzo CS, Niazi S, Fukai N, Stiller M, Peters
H, Salzano FM, Raposo do Amaral CM, and Olsen BR (1999) The
gene for cherubism maps to chromosome 4p16. Am J Hum Genet
65(1):158-166
Case courtesy: Dr. Art Nouel, Santo Domingo
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Sir James Paget, mid 19th century English Surgeon
Paget’s disease of bone(osteitis deformans)
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Bone pain
Headaches and hearing loss
Pressure on nerves
Increased head size, bowing of limb,
or curvature of spine
Hip pain
1.
Damage to cartilage of joints
Appearance of internal structure
depends on the radiographic
stage
Phase I: radiolucent resorptive
stage
Phase II: granular/ ground glass
appearing stage
Phase III: more opaque late stage
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Bowing of tibia
Phase 1: Intense Osteoclastic
activity
Bone resorption predominates
Bone turnover is 20 times
normal rate
Phase 2: OsteolyticOsteoblastic activity
Woven bone formation
Ineffective mineralization
Phase 3: Dense bone
deposition
Bone is disorganized and
sclerotic
Weaker than normal bone
Osteoporosis Circumscripta
– Osteoporosis Circumscripta
– Always exhibits bone
enlargement
– Kidney stones are common in
patients with Paget’s
– Skull bones may enlarge 3-4
times their normal thickness
– Outer cortex may remain the
same or slightly thinned
– Bone scans reveal the activity
of the lesion ( increased
uptake)
– Extreme elevation of serum
Alkaline Phosphatase levels aid
in the diagnosis
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Pelvis
Lumbar spine
Femur
Thoracic spine
Skull
Tibia
Humerus
Cervical spine
Most frequent
Least requent
Skull changes
Paget’s disease
Cotton wool appearance
Langerhans cell Histiocytosis
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Abnormal proliferation of Langerhans cell or their
precursors( skin derived)
10% of all patients with LCH have oral lesions
Eosinophilic granuloma commonly appears in the skeleton(ribs,
pelvis, long bones, skull, jaws)and occasionally in the soft
tissues
Swelling, pain,bleeding and loosening of teeth intraorally
Well defined periphery of the lesions radiographically,
sometimes punched out appearance
Usually no root resorption/may stimulate new periosteal bone
formation
The epicenter of bone destruction starts at midroot level as
opposed to the periodontal lesions where the destruction starts
at the crestal level
Letterer-Siwe disease is the most severe form- fatal outcome
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Diagnosis by positive S100
protein staining of
Langerhans cells
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Detection of rod shaped
Birbeck granules of
Langerhans cells
Radiographic features
consistent with the
Histiocytosis
Eosinophilic granuloma
Cleidocranial dysplasia
• RUNX2 gene is responsible for
ossification and was demonstrated in
knockout mouse models where only
cartilage was seen and no ossification
was found.
• RUNX2 mutations are responsible for
changes that are seen in cleidocranial
dysplasia.
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The first two findings should give away the diagnosis in this case. If only the latter two findings had
been present, one might also have included another rare dysplasia known as spondyloepiphyseal
dysplasia. However, in this latter entity, the femoral ossification centers would have been delayed a
bit more at this age.
Cleidocranial dysplasia is an autosomal dominant disorder whose very name tells us a lot about it.
Dysplasia indicates an abnormality in the development of bone, and cleido- (clavicle) and cranial
(head) tell us where major abnormalities occur. This disorder occurs in both membranous and
enchondral bone, and has a striking propensity for affecting midline structures. If you painted a big,
broad stripe down the midline with a paintbrush from skull to groin, you'd paint over a lot of
structures involved with this syndrome. Prominent features include a large head with delayed
suture closure, persistent metopic suture, Wormian bones (tiny separate bones within the skull
sutures, particularly the lambdoid), hypertelorism, a small face, a cleft mandible, dental dysplasia,
hypoplasia or aplasia of the clavicles, hypoplastic scapula with a small glenoid, a cleft sternum,
coxa vara or valga, a narrow pelvis, delayed pubic ossification, and several varieties of spinal
abnormalities. Just about every other bone in the body may be involved as well, including the
ossicles of the ear. Despite the midline tendency, the appendicular skeleton is also frequently
involved.
Cleidocranial dysplasia has also been known as cleidocranial dysostosis. However, cleidocranial
dysplasia is a better term, as it emphasizes the systemic nature of this process.
These patients have a normal life expectancy. Prominent complications of this syndrome include
dental anomalies, hearing loss, scoliosis, and dislocations of the shoulder, radial head or hip.
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The End
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