Disorders of bone (chapter 16 in the book) Are divided according to several classifications into inherited and developmental disorders

of bone Osteogenesis imperecta Osteopetrosis (marble bone disease) Cleidocranial dysplasia (Cleidocranial dysostosis) Achondroplasia : is the most coomon cause of dwarfism
Fibro-osseous

lesions: group of lesions which are may be inhereted,may be developmental,may get mutation later in life(it is not strictly inhereted)

a.Fibrous dysplasia of bone b.Cemento-osseous dysplasia

c.Cherubism

Note:Cleidocranial dysplasia is not included in the final exam because we took it previously Osteogenesis Imperfecta
A

heterogenous group of related hereditory disorders(heterogenous means not all osteogenesis imperfecta's patients have the same genetic mutation but there is heterogenous group of mutations that those
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patients are affected with but the basis abnormality of these patients is not heterogenous but it is homogenous whch is type 1 collagen abnormality) Collagen type 1 affects bones,retina,skin Clinical features 1.osteogenesis imperfecta characterized by weak bones with tendency to fracture
2.Callus

formation (granulation tissues of bone healing) is ok, however there will be weakness in bone and multiple fractures and exuberant callus may form ( Exuberant callus means on the are of fractured bone there is excessive amount of immature bone forming for healing but healing occurs at the end) shape of bone is slendr and ,,,,,, you know that cortices( which composed of compact bone) is denser than medulla (which has bone marrow) but in osteogenesis imperfecta the cortices are thinner and formed of immature woven bone which is weak may apear blue because they are so thin that the choroid (vessels )shows through hypermobility becasuse of the abnormal ligaments (the ligaments are lax and thin )

3.The

4.Sclerae

5.Joint

6.Skin is translucent so we can see the blood vessels through it

7.+-Heart valve defects because collagen type 1 is translucent

8.The

deciduous teeth are more affected

9.Dentinogenesis imperfecta may be associated with some cases but osteogenesis and dentinogenesis imperfecta are carried by separate genes (the features of dentinogenesis imperfecta are obiletrated pulp chambers and canals,constricted neck,bulbous crowns ) *som of the osteogenesis are inhereted,some of them are not inhereted (10:38 i didn't get the word)come from unknown reasons we don't have to remember the types of osteogenesis imperfecta but we have to know it is heterogenous type of disorder with different mutations may give different types with different clinical features.

Osteopetrosis The problem is with osteoclast and as you know remodeling of bone involves osteoblast (deposition of bone) and osteoclast (resorption of bone) and this should be in equilibrium,there is continous remodeling of bone normally but if there is abnormalities in osteoclast function that will decrease in resorption and increase in deposition of bone and we will have dense bone but this bone is mechanically weak, britlle(fracture easly),the marrow spaces will be oblitrated which has blood forming
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cells so we will not have enough RBCs (anemia and defecting in all blood cells ) we should keep in our mind ,in patient with osteopetrosis if you extract tooth there may be fracture in the mandible or the maxilla because the bone is brittle (weak) and your patient may have anemiaor pancytopenia (decrease in the all blood cells) and there will be susceptibility to nfection due to decrease in white blood cells there may be delayed eruption of teeth because the bone is denser than normal osteomylitis is a common complication of tooth extraction *osteomyliyis :is infection of marrow spaces or of bone infection but it is not localized ,it diffuses and there will be osteomylitis *in osteomylitis the infection spreads through marrow spaces which is not easy In general we have two types of osteopetrosis

malignant type (because it has so many complications not because malignant

a.most severe (severe pancytopenia:decrease in all blood cells,severe brittle bone,multiple fractures) b.progressive c.autosomal recessive

d.occurs early in life e.severe bone frgility and malformations f.death usually before puberty Benign type g.less severe(repeated fractures following minor trauma but it is compatible with life) h.autosomal dominant i.diagnosis may not be made until late in life and incidentally In the skull where there is excessive amount of bone there will be pressure on the nereve foraminae and cranial nerves will not function well because theire foramina is narrowed with pressure Radiographically we will see density of the skeleton that we can't differentiate between the cortices and the medulla as u know cortices are compact bone (it should be more radio opaque more white but medulla has marrow spaces so it should be less radio opaque so normally we can differentiate between cortices and medulla but in osteopetrosis we can't cuz they both have the same density because medulla has less marrow spaces and more radiodense also in the mandible and the maxilla there is mark density in the base of the skull , the mandible more involved than the maxilla and the
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roots of teeth may be invisble ,sometimes we can't say this is root and the is bone because the bone is dense like cementum,dentin with no marrow spaces Histologically a.The cortices are thick b.reduced marrow cavities c.persistence of woven bone (immature bone) d.marked lack of mature lamellar bone Achondroplasia Is another inhereted diseaseof bone, in this type of dwarfism the patient has normal size of skull and normal size of trunk (the trunk is normal,the head is normal, the problem is in the growth of base of skull) the dwarf has midfacial hypoplasia(the maxilla doesn't grow to the normal size there is retrusive maxilla in this patient ,the middle part of the face is retrusive due to defective growth of the base of the skull And there is problem in the growth of gartilage ,there is endochondral ossification which affects mainly the long bone,that's why the length is affected than skull and trunk Because we have retrusive maxilla ,there will malocclusion(class 3 malocclusion ) and they have abnormal fibroblast growth factor receptor type 3 ,the active type of this receptor will negatively affect the cartilage growth so it is a activated here and the

gartilage growth is negatively affected(short long bone) Fibro-osseous dysplasia In this group of lesions we have common histologic appearance in the normal bone we have trabeculae of bone with osteocytes in lacunae and we have marrow spaces which they have delicate tissues,fats (cuz marrow spaces later on with life they will have more fat ),loose tissues,cells which may be blood forming cells(the progenitors of WBCs,RBCs) But in fibro-osseous lesions, i don't see the marrow spaces instead we have fibrous tissues and within these fibrous tissues we have fibroblast like cells and other types of cells but mainly fibers (collagen),fibroblast the trabeculae of bone are short and they are scattered among fibrous stroma that's why this lession is called fibro-osseous lesion They said that this bonr trabeculae look like chinese characteristics (these characteristics are more likely to be seen in long bonenot short bone (in the long bone lesions not in jaw bone lesions) The fibro osseous lesions are classified into two groups 1.Osseous dysplasia (not tumor)
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2.Benign neoplasm We have two types of osseous dysplasia a.Fibrous dysplasia b.Cemento osseous dysplasia we should differentiate between begnin neoplasm,fibrous dysplasia and cemento osseous dysplasia not histologically but in clinical features and radiographic features Fibrous dysplasia is divided into two types I.monostotic fibrous dysplasia II.polystotic fibrous dysplasia In monostotic only one bone is involved but in polystotic type several bones are involved there should be mutation in fibrous dysplasia ,if the mutation happened in fetal life this is polystotic but if the mutation happened postnatal this is monostotic The monostotic is much more common than polystotic and usually the long bone is affected but also skull and jaws are affected(the maxilla is more common than the mandible) when the maxilla is involved,the lesion usually extends to the zygomatic bone and the sphenoid bone so it usually doesn't involve only the maxilla so we will call it craniofacial fibrous dysplasia Monostotic fibrous dysplasia is in the same anatomic

location but in polystotic we have several lesions in different anatomic locations What do we have in fibrous dysplasia ? look at this picture , here this pateint has lesion in the maxilla and started to expand buccally and unilaterally,if u look intraorally during the operation to take biopsy,you will see there is expansion of the maxilla labially and this is the feature of fibrous dysplasia in which the expansion occurs mor buccally than palatally or lingually Radiographically you will see increase in the radiodensity of the affected area and it may involve the maxillary sinus (oblitration of the maxillary sinus ) in addition the borders of the lesion are not well defined, we will see continuation of lesion border with normal bone,we can't mark the end of the lesion so we have diffused margines the features of monostotic fibrous dysplasia It usually affect the maxilla than the mandible The expansion usually occurs buccally The margin of the lesion is not well defined It may obliterate the maxillary sinus Sometimes you can't see the roots of teeth because of the increasing in density We can't say ,this is honeycomb lesion or multilocular but here we have orange peel(stippled small
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dots,highly in number but they uniformly spread) or ground glass appearance(how the rough class appears ,afew particles of glass) the bone is homogeneous but there is increasing in the density of the bone Radiographically in monostotic type, we have variable apearance reflecting the amount of bone trabeculae formed with fibrous tissues,if we have more bone trabeculae ,we will have more radio opaque lesion but earlier in the course of lesion ,we have cyst(relatively radiolucent lesion) we have minimal amount of bone trabeculae but with increasing in the amount of bone trabeculae at the end we will have mottled appearance of the bone what will be eventually more and more radio opaque but the feature in all stages is illdefined margines Histologically ,there is abnormal trabeculation,short bony trabeculae in a sea of fibrous tissue ,look like chinese characteristics, the roots may be separated because of the expanded bone ,the teeth may be displaced because of the area of expansion Polystotic type is much common in females more than males and several bones may be affected,what do we have here is a severe syndrome called maccune albright ,in this syndrome we have skin pigmentation (cafe-aulait)spots and inraoral melanin pigmentation,there are also hormonal abnormality that may reveals precaustion puberty(in the female means puberty

earlier than expected),multiple bones are involved in several anatomic locations so these patients may be diagnosed due to multiple fractures means minor trauma may lead to fracture that's why the clinicians take radiograph and identify severe areas of fibrous dysplasia and with hormonal identities will find other hormonal abnormalities with genetic analysis will find maccune albright syndrome in fibrous dysplasia ,there is gradual diffusion with surronding bone ,bone trabeculae are thin , delicate and short If fibrous dysplasia affects the jaws and there are three differences
rounded

blunted trabeculae thicker than chinese characteristics areas of calcifications, rimming of osteoblast and sometimes osteoclast rimming (we don't see these features in long bone lesions)

spherical

Behavior of fibrous dysplasia ,is it benign or malignant? it is benign,usually starts early in life but with time it will stop growing and the expansion will subside,usually it is not advise to do surgical treatment of fibrous dysplasia while it is in the active phase of growth ,it is better to keep it growing until the growth subsides and the the cosmetic treatment can be done.
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the clincians tryed to do radiotherapy for the fibrous dysplasia to stop the growth but it seemed to be that the radiotherapy will increase the likelihood of malignant transformation to the osteosarcoma,fibrosarcoma and other types of malignancies a few cases may develop malignant transformation but these patients will have radiotherapy before. Cemento-osseous dysplasia It is localized to the jaws,not in the long bone ,we have three types of comento osseous dysplasia ,they have the same histological appearance but with some differences in the size and location
1.periapical

cemento osseous dysplasia

2.focal cemento ossous dysplasia 3.florid is the most severe type with complications Microscopically we will see fibro osseous lesion fibrous tissue,collagen and bone trabeculae in addition we will see cementum particles cemento osseous dysplasia,fibrous dysplasia,benign tumor(cemento ossifying fibroma) have the same pathlogical pictures Nte:fibrous dysplasia is not benign or malignant ,it is not neoplasm it is a disorder.
periapical

cemento osseous dysplasia :the best

location is the anterior part of the mandible (the lowe anterior teeth) periapically u have a well defined radiolucent area this is the first difference and it can start as a cyst without white particles.in the early phse you can say it is a radicular cyst for example but if the tooth was vital u can't say radicular cyst , you have to start looking for other diagnosis which is other type of cyst or early stage of cemento osseous dysplasia ,later on the cemento osseous dysplasia will start forming and increasing short trabeculae of bone and kepping well difined margines it is more common in females and black people Histologically it is fibro osseous lesion (fibros tissue,bone trabeculae ,u can see masses of cementum with in the fibro stroma)
Focal

cemento osseous dysplasia , there is area of the mandible affected like the angle of the mandible(one mass in one region), may be in the body of the mandible but it's not related to the periapical area :is the most severe type ,involves wide spread areas of the mandible or the maxilla but it has the same features ,it has well defined margins,it has benign fibro osseous lesion appearance histologically ,radiolucent with radio opaque masses whic involve wide area of the mandible .

Florid

What's the complication of florid cemento osseous

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dysplasia ? we have denser bone because we have excessive amount of trabeculae formation espacially in the late stage in the dense bone usually the complication is infection because we don't have enough blood supply so if there is infection ,it will easly spread through the mandible so we will end up with osteomylitis (severe bone infection) so if u want to extract the tooth here,you should keep in your mind the complication of infection or mandible fracture. Usually as the density of bone increases ,the bone will be fragile and brittle the patients of floride cemento osseous dysplasia ,they should take care of theire teeth,they should not have carries,deep carries,pulpitis or periapical infection otherwise,they will get osteomylitis or if they need the tooth extraction , may fracture the mandible . Cherubism There is a defect in growth factor receptor 3,cherub means angle why are the patients with this inhereted disorder called like this ? because theire eyes upturned to the heaven because the maxilla is ( 53:22 i didn't get the word) ,the skin will be stretched so more amount of sclera will

appeare below the pupil not because they turn theire eyes upward but because the skin is stretched. cherubism is not like the fibro osseous lesion ,they don't have the same histolgy,here we are talking about something different ,here we have multilocular radiolucencies just like he odontogenic keratocyst suppose your patient has multilocular radiolucencies in the four quadrants you will think about gorlin syndrome or nevoid basal cell carcinoma bu if u take a biopsy,you will see multilocular radiolucencies in fibrous tissues so this is not odontogenic keratocyst at all and this is cherubism in cherubism we have giant cells lesion which is composed of multinucleated giant cells filling those multilocular spaces, these spaces cause expansion of the face. Now these lesions are inhereted and they are related to father age (7ay l ma3loma msh akeeda) cherubism is involved manduble more than the maxilla ,usually bilateral and may involve the maxilla thus all quadrants of the jaws, cherubism usually starts 2-4 years ,there will be rapid expansion of the face and they don't know why is child face changing,it was normal but now the mandible is wide ,later on after the age of seven there will be regression of the expansion,the child will go back to the normal or the lesion will stop growing and stop expanding,there will be deformity of the face but the clinicians should not do cosmetic surgery in the active phase of growth,
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they should leave the patient until the growth subsides down and later on they can do cosmetic treatment upon regression there will be trabeculation of those giant cells but it will not go back to normal,it will look like fibro osseous lesion (bone trabeculae and fibrous tissues) these patients later on will have hyperplasia of the lymphnodes as a reaction which increases the fullness of the face Radiographically we have well defined radiolucencies with thin cortices because of the expansion,sometimes there is perforation because of rapidly expansion of the lesion near the angle of the mandible and thus fullness of the face . in the maxilla the lesion may extend to the tuberosity. there may be displacement of teeth, may lack of eruption ,lack or fail of development of teeth in the area that is affected with cherubism because the age of oncept is early between 2-4 years that may affect negatively the devlopment of teeth,eruption or shedding of teeth The End