Disease Osteogenesis Imperfecta

Defn/Mode of Inheritance (KNOW!) -AD, AR, spontaneous mutations -all affect collagen maturation

Clinical Features -fragile bones, blue sclera, hypoacusis, bone deformities, joint hyperextensibility

Bone Pathology Radiographic Features -osteopenia -bowing, angulation & deformity of long bones -multiple fx -Wormian bones in skull

Oral Features -clinically & radiographically identical to dentinogenesis imperfecta; termed opalescent teeth (1&2 dentitions involved; blue to brown translucence, pulpal obliteration) -often class III malocclusion -florid osseous dysplasia

Histopathological Features -attenuated bone -minimal matrix -immature woven bone

Treatment and Prognosis -bone fracture management -teeth often show attrition -overall disability depends on severity of disease

Oral Pathology I Extra Information -there are 4 types of Osteogenesis Imperfecta (we dont need to know specifics for each type)

Osteopetrosis

-rare disease of osteoclastic defect -Infantile osteopetrosis has AR inheritance -really is a BONE disease, not a tooth disease

Infantile: -increased skeletal density (delayed tooth eruption)

-Infantile ranges from malignant to intermediate to transient -Adult usually is benign -Osteosclerosis is NOT = osteopetrosis! sclerosis is more of an inflammatory dz

Cleidocranial Dysplasia

-AD and spontaneous mutation -defect of osteoblastic differentiation

-hypoplasia, malformation or absence of clavicles -short stature, large heads, frontal bossing, ocular hypertelorism, depressed nasal bridge

-open skull sutures, Wormian bones

-increased prevalence of cleft palate -retained deciduous teeth -unerupted permanent & supernumerary teeth (lack secondary cementum) -narrow ascending mandibular ramus (may develop class III malocclusion) -IS significant dentally

Focal Osteoporotic Marrow Defect

Not a true neoplasm! -may be aberrant bone regeneration following EXT -persistent fetal marrow -marrow hyperplasia to meet increased demand for RBC -Focal increased radiodensity of unknown cause. It cant be attributed to any inflammatory, dysplastic, neoplastic or systemic disorder

ALWAYS asymptomatic -75% adult F -70% posterior mandible, usually edentulous area -no expansion

-incidental finding -panoramic view may appear radiolucent and well defined -periapical view shows ill defined borders and fine trabeculations -usually several mm-cm Aka: bone scar, enostosis -well defined, rounded or elliptical radiodense area -3mm-2cm -no radiolucent rim -often at root apex (typically place of inflammation) -may be multiple! -looks similar to idiopathic Osteosclerosis but has a radiolucent rim around the lesion

-normocellular hematopoietic marrow

-Bx-dx (no treatment)

Idiopathic Osteosclerosis

-5% prevalence -slightly higher in Blacks, Asians -M = F -arises in late 1st, early 2nd decade -static or slow increase in size -may have slow increase in density to 4th decade -ALWAYS asymptomatic -90% mandible (1st M area, PM, 2nd M)

-dense lamellar bone

-no need to biopsy, dont usually change over time.

-VERY VERY common

Condensing Osteitis

-inflammation of bone; responds by laying down more bone

Massive Osteolysis

-rare disease (very unusual!) that shows destruction of bone with replacement by vascular proliferation followed by fibrous fill *pts ARE symptomatic

-children and young adults -50% report trauma preceded dx -mandible> maxilla (similar lesions seen in other bones) -mobile teeth, pain, malocclusion, deviated mandible, facial asymmetry,

-radiolucent foci of varying size w/poorly defined borders -gradually enlarge to coalesce -loss of lamina dura, thinning of cortex

-nonspecific vascular proliferation with inflammation

-variable clinical course, variable treatment

Pagets Disease of Bone

-characterized by abnormal resorption and deposition of bone

*Central Giant Cell Granuloma

-nonneoplastic lesion (neither benign nor malignant)

sleep apnea, pathologic fx -common dz in Britain, US. Rare in Africa & Asia -M>F, over 40 -usually polyostotic -bone pain, osteoarthritic changes -lumbar vert, pelvis, skull, femur -thickened, enlarged, weak bones (bowing of long bones, enlargement of skull- hats dont fit!!!) -max> mand (diastema form, dentures dont fit!) -age 2-80 yrs; 60% before 30 yrs old -mandible> maxilla (may cross midline in mandible, usually anterior) -may be asymptomatic or expand, pain, parasthesia, ulceration -nonagressive lesions (no symptoms, slow growth, no perforation or root resorption) -aggressive lesions (pain, rapid growth, cortical perforation, root resorptioni, recurrence)

-decreased radiodensity with patchy sclerosis -cotton wool appearance (cotton balls) hypercementosis

-alveolar mucosa extremely convex b/c of growing bone; looks swollen, maxillary lip protrudes -blue teeth from caries and lesions (black or brown in color)

-simultaneous osteoblastic and osteoclastic activity (out of proportion) -reversal lines in bone

-diagnose by elevated Serum Alk Phos (normal Ca2+, P) -chronic & progressive -tx mostly symptomatic (bone pain w/ analgesics, alk phos w/ parathyroid hormone, new dentures- bone is expanding) *osteosarcoma develops 1% of the time -usually treated by thorough curettage -recurrence b/w 15-20% -alternative treatments (corticosteroids, calcitonin, interferon)

-diagnose clinically & radiographically Complications: -EXT must consider hypercementosis, AV shunts, poor healing -rarely, see giant cell lesions

-can thin out cortex, resorb the root, move teeth out of position -radiolucent -unilocular or multilocular -well defined borders, but noncorticated

-may be associated with aneurismal bone cyst, central odontogenic fibroma *identical to brown tumors of hyperparathyroidis m *multifocal lesions suggest cherubism (different clinically) -multinucleated giant cells in a background of spindle cells to ovoid cells (may show hemosiderin deposits) -presence of giant cells doesnt indicate GCG b/c theyre present in many other lesions as well

-because this granuloma has a wide variety of appearances, you can almost always put it in your differential diagnosis -Central Giant Cell Granuloma, rule out hyperparathyroidism with blood tests (elevated serum calcium in blood, or measure parathyroid hormone) Giant Cell Tumor (different from granuloma!) is a: -long bone lesion -more aggressive -may become malignant

Cherubism

-AD with high penetrance, variable expressivity

-usually manifests 25 yrs old -progresses til puberty, stabilized, regresses (limits itself in adulthood) -cherublike face -upturned eyes -usually bilateral symmetrical enlargement of post mandible including angle & ascending rami -occurs in almost EVERY bone -common in jaw; mandible >> maxilla -10-20yrs of age -rare under age 5 or over 35 -usually asymptomatic (20% painless swelling)

-multilocular, expansile, bilateral radiolucent areas -RARELY unilocular -RARELY other bones

-affects teeth -tooth displacement, failure to erupt

-multinucleated giant cells (like GCG, brown tumors) in a vascular, fibrous stoma -may show eosinophilic cuffing

-natural history is unpredictable -may regress after puberty -optimal therapy unknown (surgery vs. observation)

-ALWAYS multifocal! How you distinguish cherubism from giant cell granuloma (unifocal unless its a brown tumor) -Syndrome Association: Ramon, Jaffe-Campanacci, Noonan-like

Simple Bone Cyst

-benign, empty or fluid filled cavity w/in bone, w/o epithelial lining -theory that its trauma induced (traumatic bone cyst)

Aneurysmal Bone Cyst

-intraosseous accumulation of blood filled spaces (hemorrhagic extravasation) -may have giant cell granuloma-like areas

-occurs in long bones and vertebrate -rare in jaws -wide age range, mean ~20yrs -mandible> maxilla; posterior> anterior -rapidly growing swelling -may move teeth

-well delineated radiolucent area (may be focally ill defined) -1cm-10cm -may scallop b/w teeth -vital teeth -less commonly expansile -may occur in association with cementoosseous dysplasia & other BFOL -unilocular or multilocular radiolucent area -cortical expansion & thinning -borders may be well or poorly defined -may have small radiopaque foci

-lined by thin fibrovascular CT (not lined by epithelium)

-bx-dx (no tx) -scant tissue from biopsy -requires clinical/ pathological/ radiographic correlation NO RAY NO SAY

-sinusoidal spaces filled w/blood -cellular fibrous CT -multinucleated giant cells & osteoid -may be associated w/central giant cell granuloma or other BFOL

-tx by curettage or enucleation (dark venous blood wells up, tissue is like blood soaked sponge) -variable recurrence rate

Osteogenesis Imperfecta: ppt figures

-teeth have normal enamel, thicker dentin, no pulp! Why they look translucent (The Tindle effect- how light is refracted as it passes through another material) -lower x-rays show a different type of osteogenesis imperfecta where the teeth just have shells Mesenchyme forms the dentin (how dentinogenesis imperfecta is related to osteogenesis imperfecta) Ameloblasts form the enamel

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Osteopetrosis: text figures FIGURE 4-20 Osteopetrosis. A, Ribs, humerus, and clavicles exhibit increased bone density. B, Increase in bone density of cranial and base-of-skull bones. FIGURE 4-21 Osteopetrosis. Panoramic radiograph demonstrating unerupted teeth and areas of increased bone density of the mandible and maxilla.

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Cleidocranial Dysplasia: ppt figures:

(no clavicles in x-ray)

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Focal Osteoporotic Bone Marrow Defect: ppt figures

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Idiopathic Osteosclerosis: ppt figures

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Massive Osteolysis: (aka Gorham's disease) Gorham's disease or vanishing bone disease can be severely disabling and 16% of cases are fatal. Gorham's disease is usually monocentric but locally aggressive, with resorption of the affected bone extending into the adjacent soft tissues described the criteria for the diagnosis of massive osteolysis as: 1. 2. 3. 4. 5. 6. Evidence of local progressive osseous resorption Minimal or no osteoblastic response and an absence of dystrophic calcification Non-expansile, non-ulcerative lesion Absence of visceral involvement Osteolytic radiographic pattern Negative findings for a hereditary, metabolic, neoplastic, immunologic or infectious origin

Figure 1 Panoramic radiograph showing missing teeth in the right quadrant, resorption and decreased vertical height of the right mandibular body; bone resorption extending to the mesial aspect of the left canine

Figure 2 Panoramic radiograph taken 3 months after initial panoramic radiograph showing progressive resorption of the right mandibular body and loss of bone, encroaching on the mandibular canal space

Figure 3 Panoramic radiograph taken 4 months after the initial panoramic radiograph, with an arrow pointing towards a fracture in the right mandibular body with overriding fragments, osteolysis extending onto the angle and the ramus with resorption of the coronoid process

Condensing Osteitis: online figures

Pagets Disease of Bone: ppt figures

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Online figures: Central Giant Cell Granuloma: ppt figures

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Cherubism: ppt figures

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Simple Bone Cyst: ppt figures

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Aneurysmal Bone Cyst: ppt figures

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Diagnose These Pictures? (I assume thats what were supposed to do with these!):

Look up Differentials in Back of Textbook: supernumerary teeth! (distractor = something else that also has supernumerary teeth and give a reason to choose one over the other)

Look Up more Pictures online!