DISORDERS OF BONE

A) Osteogenesis Imperfecta --->

Do YOU Remember Dentinogenesis imperfecta

An heterogeneous group of related hereditary disorders same thing applies here

Osteogenesis Imperficta :
A heterogeneous group of related hereditary disorders The basic abnormality is a genetic defect in synthesis of type I collagen Type1 Dentinogenesis imperfecta may be associated with some cases (not always) especially in deciduous dentition

So the Question will be .. dentinogenesis imperficta and osteogenesis imperficta are carried on the same gene >> T/F >> the answer will be False It is thought that the two defects are carried by separate but related genes ( not the same gene just related )

Osteogenesis Imperficta Clinical features

Where is type I collagen exist ?? 1) Bone .. will be selnder and have narrow poorly formed cortices composed of immature woven bone ( immature bone ) >> fracture easily >> but the fracture usually heals without problems except for the amount of callus ( which is the bone matrix that formed in the area of fracture ) will be exuberant ( too much ) so the bone will heal in an abnormal way . 2) Ligaments .. so the ligaments will be thin , flexible and elastic , the patient will be able to move his joints in an abnormal way --> Joint Hypermobility with lax ligaments 3) Sclera .. appears blue bcz they are so thin that the pigmented choroid shines through

4) Skin .. thin and translucent >> showing the blood vessels 5) Heart valve .. will be defected 6) Ossicles of the ear .. deafness caused by distortion of the ossicles

Osteogenesis Imperficta Clinical features -- > Types

It is several types some of them are sever , they maybe fetal and the child may die before even birth And some of them are combatable with life but previous mentioned clinical features will occur +/- dentinogenesis imperficta 1)Type I (classic type): autosomal dominant, blue sclera, premature deafness, +/dentinogenesis imperfecta. 2)Type II (perinatal lethal): autosomal dominant. 3)Type III (progressively deforming): autosomal dominant/ recessive, severely osteoporotic bone, progressive deformity, dentinogenesis imperfecta. 4)Type IV: autosomal dominant. Similar to type I but more severe, white sclera, +/dentinogenesis imperfecta Note >> The types from the slides Dr didn't talk about them at all

B) Osteopetrosis (Marble Bone Disease) --->

Rare disease characterized by excessive density of all bones with obliteration of marrow cavities No deficiency in minerals no deficiency in collagen but the bone is very dense Is the bone will be weaker or stronger ?? It will be weaker , it is very brittle and fracture easily The cause is Defect in osteoclast function results in failure of proper remodeling of developing bone There is continuous process of bone remodeling >> bone resorbtion and bone formation in a balance that give us the normal bone >> in the osteopetrosis there is defect in this balance due to defect in osteoclast function ( bone resorbtion )

Osteopetrosis Clinical features

1) The excessive amount of bone will go into the bone marrow >> obliteration >> decrease in blood elements >> secondary anemia , neutropenia, with susceptibility to infections 2) Abnormally dense bone is mechanically weak, so fractures are common 3) And the excessive amount of bone will compress the foramena of the skull >> compression on nerves >> neural manifestations

4) Jaws are composed of dense bone with reduced marrow spaces >> There may be delayed eruption of teeth 5) Osteomyelitis is a common complication of tooth extraction ( bcz >> obliteration in bone marrow >> decrease in blood elements >> decrease in WBC's >> decrease in body defense mechanism >> extraction >> infection in the bone of the jaw osteomyelitis )

Osteopetrosis Clinical features --> Types

Two basic patterns
1) Malignant Type 2) Benign Type

Not Compatible with life Progressive Autosomal recessive. Occurs early in life. Severe bone fragility and malformations Death usually before puberty.

Compatible with life Less severe Autosomal dominant Diagnosis may not be made until late in life and incidentally Repeated fractures following minor trauma

Benign and malignant they are just terms to describe the severity and there is nothing to do with tumors

Osteopetrosis Radiographic Features

1) Increased density of skeleton -- > white >> more radiopaque 2) Lack of distinction between cortical and medullar bone : cortex usually is thicker and more radiopaque than medulla bcz cortex doesn't have marrow spaces but here the medulla will be thick so no distinction btw cortex and medulla 3) Marked density of base of skull 4) Mandible more involved than maxilla 5) Roots of teeth may be invisible
Cortex as thick as medulla >> lack of distinction btw them Medulla >> contain marrow spaces >> more radiolucent Cortex thicker , it doesn't have marrow

DISEASED

NORMAL

Roots of teeth may be invisible

Osteopetrosis Histopathologic Features

1) Thickened cortices : they are already dense in the normal situations but will be thicker more and more 2) Reduced marrow cavities until they are sometimes absent 3) Persistence of woven bone : woven bone is immature bone it is in the premature stage > it doesn't have the lamellae .. So in the osteopetrosis there is excessive amount of bone but it stay in the premature stage ( woven bone )

C) Cleidocranial Dysplasia(Cleidocranial Dysostosis)->

Autosomal dominant inheritance >> the defect in the fibroblast growth receptor Abnormalities of many bones, particularly the skull, jaws, and clavicles. Dental abnormalities common.

Cleidocranial Dysplasia Clinical Features

1) Abnormalities of skull: Fontanelles and sutures tend to remain open Skull appears flat with prominent frontal,parietal and occipital bones Nasal bridge is depressed ( notch ) Maxilla retruded and may be underdeveloped with a high, narrow arched palate 2) Partial or complete absence of clavicles allows shoulders to be approximated until they meet.

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

D) Achondroplasia --->
Growth in long bone starts in specific areas in cartilage and endochondral ossification happen there SO >> achondroplasia >> Autosomal dominant, but some cases appear to be due to spontaneous mutations Most common form of dwarfism. Abnormality of endochondral ossification. Absent or defective zone of provisional calcification of cartilage in epiphyses and base of skull ( they are the centers of growth in cartilage where the growth of long bone start )

Achondroplasia Clinical Features

Trunk and head of normal size. Limbs are excessively short. Middle part of face is retrusive due to defective growth of base of skull ( head normal but the maxilla retruded ) Severe malocclusion ( bcz of retruded maxilla )

Now we will start with another group of disorders --- >

FIBRO-OSSEOUS LESIONS
It is a term for more than one lesion .. Definition : The term encompasses a variety of disorders which are characterized histologically by replacement of normal bone by cellular fibrous tissue within which varying amounts of predominantly woven bone and acellular islands of mineralized tissue develop NOTE : They cannot be distinguished by histology alone; clinical and radiographic features must be considered - So it's replacement of normal bone by fibrous tissue , this fibrous tissue contain within it woven bone and acellular calcified materials - There are three differential diagnosis for the fibro-osseous lesions which are : 1) Fibrous dysplasia 2) Cemento-osseous dysplasia 3) Ossifying fibroma We previously talked about osteogenesis imperficta , osteopetrosis , cledocranial dysplasia and achondroplasia and each one has it's unique clinical , histopathological , radiographic features .. BUT NOW we are gonna talk about lesions have the same histological features and the only way to give an exact and specific diagnose is by clinical and radiographic features

1) Fibrous Dysplasia --->

It is fibro osseous lesion There is replacement of normal bone by fibrous tissue , this fibrous tissue contain within it woven bone and acellular calcified materials Diffuse enlargement of the bone --> the first clinical feature u can't see where it starts and where it ends

In the Radiograph also u can't see where it starts and where it ends--> important radiograph feature U can see radiographically orange-peel appearance ( metl 8e$ret al borto8al ) >> Increase In bone density

Normal bone
we will continue in the next lecture .. thank you :)

Done By ::: HaNaa JadAllah