1.

Osteogenesis imperfecta
Intro A heterogenous gp of related hereditary d/o Genetic defect in synthesis of type 1 Collagen2 defects r carried by separate but related genes.

2.Osteopetrosis Rare,excessive density of all bones with obliteration of marrow cavities+2Anemia+ Neutropenia Defect in osteoclast fxn,results in failure of proper remodeling of developing bone

3. Cleidocranial Dysplasia AD,abnormalities of bones:skull,jaws and clavicle

Mutations to the RUNX2 gene(previously CBFA1)

Etiology

Clinical Features

1.

Sclerae may appear blue because they are so thin that the choroid shows through.

1.
2. 3.

Dense boneweakfracture Jaws are coposed of dense bone + reduced marrow spaces Tooth eruption delayed Two basic patterns:
2.Malignant type: Autosomal recessiveProgressive Severe bone fragility and Malformations Occurs early in life

1. 2. 3. 4.

Abnormalities of skull: Fontanelles and sutures tend to remain open. Skull appears flat with prominent frontal, parietal, and occipital bones. Nasal bridge is depressed. Maxilla may be underdeveloped with a high, narrow arched palate.

1.Benign type

2.

Joint hypermobility with lax ligaments.

Autosomal dominant Less severe

Partial or complete absence of clavicles allows shoulders to be approximated until they meet.

3.

Dentinogenesis imperfecta (DI)may be associated with some cases Weak bones with fracture tendency

Diagnosis may not be made until late in life and incidentally. Repeated fractures following minor trauma

4. 5.

Death usually before puberty

The slender,long bone have: Narrow,poorly formed cortices composed of immature woven bone 6. 7. Type -1(Classic Type) -2(Perinatal lethal) -3(Progressively deforming) -4 Deafness from distorted ear ossicles Translucent,thin skin

Dental abnormalities: 1. Deciduous dentition tends to be retained with delayed or non-eruption of permanent dentition because of multiple impactions. 2. Supernumerary teeth and dentigerous cysts are common. 3. Roots tend to be thinner than normal. 4. Secondary cementum is sparse or absent on both dentitions.

AD,Blue sclera,Premature deafness,+/- DI AD AD/AR.osteoporotic bone,progressive deformity,DI AD,similar to Type 1 but severe

This is clinical result of multiple supernumerary teeth:retained deciduous dentition with delayed or non eruption

Histological Features

Thickened cortices. Reduced marrow cavities. Persistence of woven bone. Marked lack of mature lamellar bone.

Radiographical Features

Increased density of skeleton. Lack of distinction between cortical and medullar bone. Marked density of base of skull. Mandible more involved than maxilla. Roots of teeth may be invisible.
Here we can not see the maxillary sinuses although they are exist.and we can not see the roots of teeth(see the below picture)

Chest X-ray for CD

The increased density of bone occurs in expense of bone marrow that leads to -2anemia -Neutropenia -Sth.aureus infection -Osteomyelitis

This show the dental abnormalities of this disease:multiple supernumerary teeth,thin roots, dentigerous cysts and may be odontogenetic tumors,secondary cementum is sparse or absent in both dentition.

4.Fibro-osseus lesion A variety of disorders characterized by replacement of normal bone by cellular fibrous Where? Woven bone and Acellular islands of mineralized tissue develop

Type Intro

1.

monostotic

a) Fibrous Dysplasia 2.

polyostotic

Osseus dysplasia a)Fibrous Dysplasia(Dys) 1. 2. -monostotic -polyostotic

Benign Neoplasm Ossifying Fibroma/ cemento-ossifying fibroma

One bone (Any bone-most frequentlimbs,ribs,jaws > common(childhood+ adolescence) Maxilla > Mandible Maxilla adjacent bone involved i.e Zygoma + sphenoid term used is craniofascial dys

> than one > than one 2-3 times > in F Variable distribution Bone in one of limb esp the lower - other skull,vertebrae,ribs,and pelvi -Almost any combination can occur ,theres tendency for segmental + localization in 1 limb/1 side of body Severe cases diagnosed in childhood b/c of associated Bony deformities pathological fractures

Occasionally not diagnosed until adult life -they may give history of recent expansion of quiescent bony enlargement. -Reactivation is unknown,sllunya due to pregnancy Etiology

b)Cemento-osseous Dys Periapical cemental Dys, Focal cemento-osseous Dys,gigantiform dys Fibrous Dysplasia Hystologically: o Replacement of normal bone by fibrous tissue containing islands and trabeculae of metaplastic bone. Appearances of jaw lesions are more variable than in other bones. Fibrous tissue may be richly cellular and show a whorled pattern, or may consist of thick, interlacing collagen bundles. Newly formed bony trabeculae are delicate and irregular (likened to Chinese characters). They consist of immature, coarsefibered woven bone. In jaw lesions, trabeculae may be thicker and blunter than in long bones. Spherical areas of calcification resembling cemetum may be present. Osteoblastic and osteoclastic activity may be seen in relationship to some trabeculae. Clinical Features

o o

o o o o

Developmental defect caused by mutation in GNAS1 gene in fetal (poly)+ postnatal(mono) May present as part of McCuneIncreasing,painless swelling causing facial Albright syndrome: asymmetry Smooth,fusiform,pronounced > bucally Maxilla Rare & Severe prominence of the cheek and Caf-au-lait melanotic buccal expansion distal to spots on skin. canine,which may extend to Precocious puberty in tuberosity females. involve sinus,zygomatic Occasionally other process,orbital floor endocrine causes exophtalmus + proptosis abnormalities. Mandibular Premature skeletal Involve M + PM area maturation. obvious protuberance + increase Pigmentation of oral depth of jaw mucosa reported. Both(either 1) Occurs in males without precocious Displacement puberty Failure of teeth eruption Canine fossa obliterated

o o

At the margins, lesional bone fuses with normal bone and this particular features distinguishes FD from ossifying fibroma. Usually with increasing age, the amount and cellularity of fibrous tissue decreases and the amount of bone increases.as the lesion matures, there is progressive remodelling of woven bone to lamellar bone. Occasionally, the lesion may be associated with development of aneurysmal bone cyst.

1. Radiograp hical Features

Jaw lesions are variable in appearance, reflecting differing amounts of metaplastic bone formed within fibrous tissue. Borders are difficult to define because of gradual transition to normal. Initially resemble cyst-like radiolucencies containing faint bony trabeculae. With increasing trabeculation, they become mottled and eventually opaque. The many delicate trabeculae give a ground-glass or orange-peel-stippling effect. In some lesions, coarse mottling of smoke-screen pattern produced by irregular radiopaque masses lying in a radiolucent background. In the maxilla, lesions may extend up to and distort, but do not cross suture lines. Roots of teeth in involved areas may be separated and teeth may be displaced, but root resorption is exceptional. Behavior of Fibrous Dys. Of bone
Malignant trans. Fibrosarcoma Some of cases followed radiotx. Treated by conservative surgical removal to reduce deformity only The lesion tend to expand mainly during the period of active skeletal growth + become quiescent in adult life.

2. 3. 4. 5.

6.

Lt: Histologically,it shows immature coarse fibered woven

bone(the pink parts of the right section) With further remodeling ;lamellar bone may appears

7. 8.

Rt: notice the fibrous tissue(white with black dots)and woven

bone(dark pink) Usually with age the cellularity components decrease and the bone increases. spherical of calcification resembling cementum

In jaws lesion there are variable appearances of radiopaqe and radiolucent areas,depending on amount of metablastic deposited bone

5.

Achondroplasia

1. 2. 3. 4. 5.

AD,sometimes due to spontaneous mutations Most common-Dwarfism Abnormality of endochondral ossification Absent /defective zone of provisional calcification of cartilage in epiphyses and base of skull

notice the non-defined border between which is normal and abnormal. gradual transition between normal and abnormal bone. The abnormal bone shows the appearance of which is called ground glass\orange peel stippling.

Clinical Features -Trunk & head of normal size - Limbs- short -Middle pt of face-retrusive due to defective of skull base -Severe malocclusion b)Cemento-osseous Dysplasia Intro Term used to identify osseous dysplasia which localized to the jaws. > in female(> 30 yr) > in mandible Diff clinical presentations of the same disorders A range of appearances : 1. Periapical cemental dys. - Multiple small lesions - Apical area of mand.incicors 2. Florid cemento-osseous dys. - Multiple large lesions - 1 or > quadrants in 1 or both jaws.

6.Cherubism A rare disorder of bone,inherited in AD with varieties. Name relates to clinical appearances & facial deformity cherubs (A representation of a small angel, portrayed as a child with a chubby rosy face) Mutation in gene associated with fibroblast growth factor rec. 3(FGFR3) 1. 2. Painless bilateral swellings of the jaws appear bw 2- 4 yrs Swellings-symmetrical + involve mand/+ max Enlarge rapidly to age 7 static regress Progressive reduction in deformity as the patient passes from puberty into adult life. Cosmetic surgery is often needed to deal with residual deformity. Facial deformity : fullness of cheeks + jaws results in chubby face Theres rim of a sclera beneath the iris due to stretching of ski over swellings(cherubs appearance) Reactive hyperplasia of Submandibular LN adds to facial fullness Dental abnormalities: Premature loss of 1 teeth + displacement Lack of eruption Failure of development of 2 teeth Cellular and vascular fibrous tissue containing varying amounts of multinucleated giant cells. The appearance is similar to other giant cell lesions of the jaws, and differentiation between them requires clinical and radiographic information. As the activity of the lesion decreases, it becomes more fibrous, giant cell number diminishes, metaplastic bone is deposited.
There are cellular and vascular fibrous components.with varying amounts of multinucleated giant cells. With time the fibrous components increases and the giant cells decrease,and there is deposition of metablastic bone

Etiology Clinically

3.
4. 5. 6. 7. 8. 9.

Histologically

Features of fibro-osseous lesion.Fig 16.13 m/s245

Radiographyca lly

Reflect the extent of mineralization May be radiolucent,mixed,radiopaque

-Sharply defined, multilocular radiolucencies.

-Expansion and thinning of cortical plates, even perforation. -Mandibular lesions appear to begin near the angle and spread to involve the body and ramus. -Maxillary lesions are often confined to tuberosities, but sinus may be obliterated.
There are poorly demarcated Radiopaque areas that representing calcified tissue

Multilocular radiolucencies ,thinning of cortical bone (even perforation),be aware

Confined lesions in the maxilla to tuberosities with possibility of sinus

DISORDERS OF BONE Inherited and Developmental Disorders of Bone 1. 2. 3. 4. 5. 6. 7. 8. Osteogenesis Imperfecta Osteopetrosis(Marble Bone Disease) Cleidocranial Dysplasia(Cleidocranial dysostosis) Achondroplasia Fibro-OsseousLesions Fibrous Dysplasia of Bone Cemento-Osseous Dysplasia Cherubism Metabolic and Endocrine Disorders of Bone 1. Osteoporosis 2. Primary Hyperparathyroidism 3. Secondary Hyperparathyroidism 4. Rickets & Osteomalacia 5. Acromegaly

Healing of Bone 1. Healing of an extraction socket 2. Osseointegrated implants Pagets Disease of Bone Inflammatory Disease of Bone Central Giant Cell Granuloma 1. 2. 3. 4. 5. 6. Alveolar Osteitis(Dry Socket) Focal Sclerosing(condensing) osteitis Osteomyelitis Chronic periostitis associated with hyaline bodies(pulse/vegetable granuloma) Radiation injury and osteoradionecrosis Torus Palatinus,Torus Mandibularis,and other Exostoses Dense Bone Islands Tumours of Bone 1. Osteoma and Osteoblastoma 2. Osteosacroma 3. Chondroma and Chondrosarcoma 4. Myeloma 5. Ossifying(cemento-ossifying) fibroma

Haemangioma of Bone Langerhans Cell Histiocytosis Metastatic Tumours