3 - bone disorders Flashcards by Luke Lloyd

4 inherited bone disorders

osteogenesis imperfecta

osteopetrosis (denser)

cleidocranial dysplasia

cherubism

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5 acquired bone disorders

osteitis deformans (pagets)
fibro-osseous lesions of the jaw (fibrous dysplasia, cemento-osseous dysplasia COD)
osteroporotic bone marrow defect
idiopathic psteosclerosis 
simple bone cyst

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90% autosomal dominant inherited “brittle bone disease”

several RARE disorders of bone

defective collagen > abnormal bone mineralization > low bone density(osteopenia)

osteogenesis imperfecta

big spectrum, defective collagen gene

some sporadic cases
most common binherited bone disease

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most common bone disorder and severity is on a spectrum

osteogenesis imperfecta

90% AD

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blue sclerae
hearing loss
bones fragile and fracture easily - varies widely with the type of mutation

osteogenesis imperfecta

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craniofacial alterations Class 3 occlusion, triangular face

bowing deformity long bones

osteogenesis imperfecta

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osteogenesis imperfecta dental alterations identical to _

3 things

dentinogenesis imperfecta

blue, yellow, brown TRANSLUCENCE (more noticeable in primary teeth)

opalescent teeth

severe attrition leading to loss of VDO and potential tooth loss

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osteogenesis imperfecta and dentinogenesis imperfecta can have similar tooth alterations and blue sclerae, but they are

the same or different mutations

they are distinct mutations, different diseases

dentinogenesis imperfecta is reserved for alterations isolated to the teeth

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dental defects associated with OI should be designated as _ teeth

opalescent teeth

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radiographic features

“shell teeth” or premature pulpal obliteration

narrow or “corn cob” shaped roots

Osteogenesis Imperfecta or dentinogenesis imperfecta

shell teeth - normal enamel thickness, thin dentin

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tx for osteogenesis imperfecta

physiotherapy/rehab
orthopedic surgery
minimize factors leading to fracture
IV bisphosonates for children with mod/severe pain, reduce fracture rates

crown/bridge
full/partial dentures
implants(possibly IV bisphos prob not)

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osteogenesis impefecta Px

depends on the mutation and expression of the gene
fractures bones heal - usually with _ (weaker)

abnormal callus formation

ranges from minimal bone deformity to essesntially normal growth to severe forms leading to death from passage thru the birth canal

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Several forms - autosomal dominant and recessive (recessive more severe)
failure of osteoclasts to fxn normally - bone is not resorbed

continued bone formation and ossification - increased bone density

osteopetrosis

loss of hematopoietic precursor cells (pancytopenia)

increased susceptibility to infections and osteomyelitis

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RARE
blindness and deafness due to cranial nerve compression
fractures
osteomyelitis (frequent complication of tooth extraction)

osteopetrosis - fucked up fxn of osteoclasts - densebone

tooth eruption is often delayed

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radiograhic findings

diffuse density of skeleton
marrow spaces filled in by dense bone
tooth roots diffiuclt to visualize due to surrounding dense bone
failure of tooth eruption

osteopetrosis

uniformly sclerotic bone, failure of tooth eruption

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TX: supportive measures (transfusions antibiotics)
bone marrow transplant - limit success
alternative therapies - interferon with calcitriol, restriction of Ca++ intake, steroids

osteopetrosis

AD can have longterm survival

poor Px for autosomal recessive form - usually die before 20years old

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AD
spontaneous mutations up to 40%
also autorecessive as well

uncommon, affects skull, jaws and clavicles primarily

prominent forehead, hypo plastic face

cleidocranial dysplasia

long neck

shoulders narrow and droppings (hypoplastic or missing clavicles)

hypermobility of shoulders

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primary dentition retained because permanent teeth do not erupt

numerous impacted and supernumerary teeth

plenty of teeth; not erupting in the correcting space or not erupting at all

cleidocranial dysplasia

prominent forehead, hypoplastic midface, long neck, dropping shoulders, missing clavicles

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combined surgical and orthodontic care

correct skeletal relations, remover supernumerary teeth, correct alignment of permanent teeth

Px - good, life span is essentially normal

cleidocranial dysplasia

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AD
spontaneous mutations occur

variable expressivity - lesions may cause tooth displacement, tooth mobility, failure of tooth eruption, impaired mastication, speech difficulties, upper airway obstruction, and vision or hearing loss

Cherubism

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detected in childhood (2-7)
painless bilateral expansion of jaws, especially mandible

chubby cheeks

cherubism

chubby cheeks - cherubs depicted in Renaissance etchings

maxilla involved less frequently

involvement of inferior and/or lateral orbital wals may tilt the eyeballs upward and retract lower eyelid - “eyes upturned to heaven”

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radiographic features

bilateral multiocular radiolucencies posterior mandible, maxilla

occasionally unilocular

often significant displacement of teeth

Cherubism

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histopathologic features

cellular fibrous CT
sparse benign-appearing multinucleated giant cells

may see perivascular hyalinization 9 eosinophilic cuffing)

cherubism

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Cherubism tx

optimal tx has not been determined

surgical intervention sometimes accelerates growth of lesions

many cases involute during puberty

px - difficult to predict for any given case
persistent facial deformity or continued disease progression possible

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unknown etiology (genetic? envirconmental? virus?) abnormal resorption and deposition, resulting distorted, weaker bone affected bones become thickened

Osteitis deformans (paget disease) acquired bone disorders

often discovered incidentally on routine blood test or dental radiographs, elevated serum alkaline phosphatase primarily Anglo-Saxon ancestry 2:1 male or female predilection

Osteitis deformans (paget) 2;1 male predilection, older patients rare <40

"Simian" monkey like stance if femurs involved - bowing of legs most cases polyostotic bone pain in up to 40% of cases

Osteitis deformans - paget

skull involvement - progressive enlargement, "hat won't fit" jaws involved 17% of cases - thickened, enlarged alveolar bone "dentures don't fit"

acquired Osteitis deformans - pagets

radiographic features "cotton wool" appearance of bone - "moth-eaten" may have extensive hypercementosis

Osteitis deformans - pagets

histopathologic features: "Mosaic" pattern of irregular trabeculae with resting and reversal lines (from abnormal resorption and deposition) osteoblastic rimming marrow replaced by vascular fibrous CT

osteitis deformans (paget) osteitis deformans

tx for osteitis deformans - pagets

if asymptomatic - no tx bisphosphonates

Osteitis deformans - pagets Px - chronic and progressive, but usually no life-threatening patients should be monitored for development of a giant cell tumor or malignant tumors, especially _

especially osteosarcoma

difficulty extracting teeth with hypercementosis and/or ankylosis Hemorrhage during vascular/lytic phase poor wounding healing, increased susceptibility to osteomyelitis during avascular/sclerotic phase

osteitis deformans - pagets new dentures may be required periodically although successful implant placement reported in a few cases, Px generally unfavorable and more so with use of bisphosphonates

diverse group varying etiologies developmental(harmartomatous) reactive dysplastic neoplastic

fibro-osseous lesions fibrous dysplasia cemento-osseous dysplasia COD (periapical, focal, florid)

Fibro-osseous lesions post-zygotic mutation: pluripotent stem cell, skeletal progenitor cells, post-natal life time of occurrence of mutation determines extent

Fibrous dysplasia

Fibro-Osseous lesions presents ~1st or 2nd decade (younger than Paget disease) no gender predilection polyostotic or monostotic (many or one bone) 75-80% monostotic

Fibrous Dysplasia

Fibrous-osseous lesions painless, unilateral swelling slow growth jaws among most commonly affected bones MAXILLA more than mandible

fibrous dysplasia craniofacial lesions may involve adjacent facial bones results in marked facial deformity

radiographic features ``` early stages radiolucent or mottled opacify as they grow obliteration of maxillary sinus class "ground glass" pattern poorly defined, blending margins ```

fibrous dysplasia of fibro-osseous lesions

2 types of polyostotic fibrous dysplasia type 2 or more bones affected, and cafe-au-lait spots with jagged borders (coast of Maine)

Jaffe type Fibrous Dysplasia

Fibrous dysplasia type 2 or more bones affected by fibrous dysplasia, cafe-au-lait spots and endocrine disturbances - precocious puberty

McCune-Albright type

Histopathologic features irregular-shaped trabeculae of immature (woven) bone in cellular fibrous stroma "Chinese characters" no capsule - abnormal bone fuses to adjacent normal bone

fibrous dysplasia

TX Fibrous Dysplasia none if lesion is small delay surgery until disease _ radiation CONTRAINDICATED

delay surgery until disease quiescent surgical reduction if cosmetic or fxnal problem En-bloc resection

Px sometimes disease stabilizes with skeletal maturation spontaneous regression has been reported 25%-50% surgically treated lesions show regrowth, especially younger pts malignant transformation rare, usually in lesions which have received radiation

fibrous dysplasia

Proteus syndrome is _ man disease

elephant man disease

Fibro-osseous lesions benign, possibly reactive process may originate from fibroblasts of PDL vs defect in bone remodeling most common fibro-osseous lesion encountered in clinical practice of dentistry

Cemento-osseous dysplasia COD acquired bone disorder periapical COD Focal COD (most common white female) Florid COD term may be changing to "osseous dysplasia" instead of COD

Fibrous-osseous dysplasia Biopsy multiple small gritty fragments obtained most common in females but can affect both genders and any ethnic groups

cemento osseous dyspalsia - more common in female black> east asian>white focal type reported to be more common in white females

``` usually found incidentally on x-ray tooth-bearing areas of jaws asymptomatic swelling, discomfort unusual TEETH TEST VITAL ```

COD - cemento-osseous dysplasa

radiographic features ranges from completely radiolucent to densely radiopaque with a thin radiolucent rim (PDL remains intact) may be associated with simple bone cyst

Cemento-osseous dysplasia C)D

_ COD shows multiple cotton wool type radiopacities in at least 2 quads of the jaws may

Florid COD Focal - white women

Cemento-osseous dysplasia - COD spectrum of severity

Periapical - mild focal - moderate (white women) Florid - severe - cotton wool in 2 quads

_ COD mandibular anterior region usually, maxillary anterior as well middle-aged black females especially initially unilocular radiolucencies at apices, central opacity develops gradually asymptomatic

Periapical COD - mild periapical COD can be confused with hypercementosis(radiodensity is all within the PDL), idiopathic osteosclerosis (no radiolucent rim, borders blend with surrounding trabeculae) , benign cementoblastoma (radiolucent rim is contigous with PDL and PDL is not intact at he involved portion of the root)

_ COD more often affects white females; may be biased by studies body of mandible most common 20-40 younger demographic unilocular radioluceny or radiopacity with thin radiolucent rim asymptomatic

focal COD can be confused with an ossifying fibroma, a true neoplasm, but focal COD is seen more often (similar demographic - younger adult women)

_ COD middle-age or older black females multiple quads of jaws affected generally asymptomatic, unless overlying mucosa ulcerates, resulting in bony sequestration (eg from ill-fitting denture)

Florid COD - most severe yellowish, avascular cementum-like material is beginning to exfoliate thru the oral mucosa DENTAL IMPLANT PLACEMENT NOT RECOMMENDED lesions tend to be hypovascular (prone to necrosis, infection, osteomuelitis with minimal provocation) recuded ability to heal

Histopathologic features: cellular fibrous CT with embedded mineralize tissue resembling either immature(woven) bone or cellular cementum fragmented specimen mineralized product resembles GINGER ROOT

cemento-osseous dysplasia mature lesions have more mineralized product than cellular stroma FLORID COD can show densely mineralized tissue with necrotic debris and inflammation

Cemnto-osseous dysplasia dx based on clinical and radiographic feactures can be confirmed by Bx if indicated

ginger root vital teeth spicules of bone and cementum like hard tissue within moderately cellular fibrous CT

TX for COD none indicated for _ COD regular vists for dental prophy and OHI to prevent periodontal disease and need for extractions good fit of dentures

none indicated for periapical COD Bx for focal to ruleout other disease, Bx not necessary for Florid COD encourage patients to retian their teeth ideally avoid surgical procedures - onset of symptoms asssociated with exposure to sclrotic bone to oral cavity

tx for COD symptomatic patient with secondary osteomyelitis

is difficult debridement antibiotics - often not effective CHX rinse

fibro-osseous lesions COD Px excellent for _ and _, although initial appearance of _ COD may be first sign of _ COD generally good fo _ COD COD malginant transformation common or rare?

excellent Px for periapical and focal focal might be first sign of florid generally good for florid guared if secondarily infected requireing debridement and ATB reported, but RARE

area of hematopoietic bone marrow of sufficient size to cause a radiographic radiolucency pathogenesis unknown may resemble metastatic disease

acquired | osteoporotic bone marrow defect

``` usually posterior body of mandible often at old extraction site usually middle age FEMALE incidentally on radiograph asymptomatic radiolucency ```

osteoporotic bone marrow defect radiolucency can appear circumscribed, but on closer inspection may show ill-defined borders and a fine trabecular pattern

radiolucency can appear circumscribed, but on closer inspection may show ill-defined borders and a fine trabecular pattern, old extraction site, females,

osteoporotic bone marrow defect

histopathologic features fatty and hematopoietic marrow no abnormal osteoblastic or osteoclastic activity maybe megakaryocytes

osteoporotic bone marrow defect

Osteoporotic bone marrow defect Tx and Px

Bx often indicated to establish Dx Px - excellent once Dx'd, no further tx needed

dense bone island, Enostosis, bone whorl, focal periapical osteopretrosis, bone scar

Idiopathic osteosclerosis

focally increased area of dense bone unknown cause usually found incidentally on radiograph asympotmatic remain static or slowly enlarge - usually stabilize at skeletal maturity (occasionally regress)

acquired Idiopathic osteosclerosis no gender predilection no expansion 3rd decade!!

radiographic features radiopaque! mandibular premolar/molar area most common site borders blend with surround trabeculae, BUT occasionally may be sharp

Idiopathic osteosclerosis borders will be blended for the most part with surround trabecular bone

does Idiopathic sclerosis cause tooth displacement

rarely does usually does not lamina dura and PDL fine - vital teeth

idiopathic osteosclerosis and fibrous dysplasia are well or poorly defined on CT

IO - well defined on CT usually, blended on xray fibrous dysplasia is poorly defined on CT

in the past this acquired bone disorder was not distinguished from inflammatory or other lesions; so it may be confused with: condensing osteitis, hypercementosis, cementoblastoma

idiopathic osteosclerosis condensing osteitis - big lesion appearing pulp and widen PDL change inflammation bone at apex hypercementosis - within PDL cementoblastoma - PDL around root of tooth and surround lesion - classic circle dome of endo

Histopatholgoic features dense vital bone may see fibrofatty marrow

Idiopathic osteosclerosis

tx for idiopathic osteosclerosis none indicated unless _ or _ Px?

none indicated unless symptoms or cortical expansion if noted in childhood, periodic radiographs until lesion stabilizes, Bx if confirmation needed to establish Dx Px = excellent, not likely to progress or change in adulthood

empty or fluid filled bone cavity lacks an epithelial lining, therefore a pseudocyst usually an incidental findings

simple bone cyst | other terms traumatic bone cyst, hemorrhagic bone cyst

etiology of simple bone cyst

unknown - many theories trauma-hemorrhage theory - trauma causing hematoma but not fracture - without subsequent organization and repair of hematoma - instead liquefies trauma not a consistent finding

seen in 1st or 2nd decade no gender predilection in jaws but in other bones, male posterior mandible and symphysis typically asymptomatic and no expansion

simple bone cyst

radiographic features well delineated usually unilocular, can be multilocular often scallops betwen roots( sugggestive but not dx)

simple boen cyst

histopatholgical features difficult to obtain specimen; usually just fragments of bone microscopically these bone fragments are lined by inflamed granulation tissue, NO EPITHELIAL lining loose CT and Bone

simple bone cyst | "teenage male with radiolucenyc right mandible"

simple bone cyst tx and Px

surgical exploration and curetage to induce bleeding (empty cavity within bone is found at time of surgery) causes hemorrhage which organizes and lesions heals Px = normal radiographs ~12-17 months postop periodic radiographs warranted until complete resolution recurrence rate low - up to 27% though

patients with _ disease have an increased risk of malignant tumors, especially osteosarcoma

Paget disease