Lesson 7 (BONE DISEASES) FINALS Flashcards
brittle bones
OSTEOGENESIS IMPERFECTA
_______ is a dense calcified tissue affected by a variety of diseases causing dynamic reactions
bone
characteristically follows _______ patterns of heredity; however, sometimes a specific disease will be inherited in one case and not in another
mendelian
(BONE AND BONE DISEASES)
True or false
both maxilla and mandible do not suffer from generalized and
localized forms of skeletal diseases
FALSE
(both maxilla and mandible SUFFER from generalized and
localized forms of skeletal diseases)
the anatomic arrangement of the teeth embedded ______ in
the bone often produces a modified response to the primary injury
partially
fragilitas ossium
OSTEOGENESIS IMPERFECTA
osteopsathyrosis
OSTEOGENESIS IMPERFECTA
Lobstein’s disease
OSTEOGENESIS IMPERFECTA
closely related to dentinogenesis imperfecta
OSTEOGENESIS IMPERFECTA
arise or recognize later in childhood; also called osteopsathyrosis
Lobstein’s Type or tarda
What disease ?
Lobstein’s Type or tarda
OSTEOGENESIS IMPERFECTA
What disease?
Vrolik’s Type or congenita
OSTEOGENESIS IMPERFECTA
True or false
many infants affected with osteogenesis imperfecta are stillborn or die shortly after birth
True
extreme fragility and porosity of the bones with an
attendant proneness to fracture
OSTEOGENESIS IMPERFECTA
the fracture heals readily but new bone is of imperfect
quality
OSTEOGENESIS IMPERFECTA
→ hyperplastic callus formation
OSTEOGENESIS IMPERFECTA
pale blue sclerae
OSTEOGENESIS IMPERFECTA
o may be exuberant and mimics osteosarcoma
o in some cases true sarcoma arises
hyperplastic callus formation
(OSTEOGENESIS IMPERFECTA)
o abnormally thin sclerae causing pigmented choroid to show and produce its bluish color
pale blue sclerae
(OSTEOGENESIS IMPERFECTA)
not confined to this diseases; also seen in:
- osteopetrosis
- fetal rickets
- Marfan syndrome
- Ehlers-Danlos syndrome
(M,E,F,O)
OSTEOGENESIS IMPERFECTA
white sclerae
OSTEOGENESIS IMPERFECTA
found in older patients with more severe disease and earlier onset of fractures
white sclerae
additional signs and symptoms:
o laxity of the ligaments
o peculiar shape of the skull
o abnormal electrical reaction of the muscles
o capillary bleeding with no specific blood dyscrasia or
defect
OSTEOGENESIS IMPERFECTA
→ thin cortices
o composed of immature spongy bone
o trabeculae of the cancellous bone are delicate and show
microfractures
OSTEOGENESIS IMPERFECTA
failure of fetal collagen to be transformed to mature collagen in the organic matrix
OSTEOGENESIS IMPERFECTA
→ calcification proceeds normally
→ defective intermolecular cross-linkage of adjacent collagen
molecules
OSTEOGENESIS IMPERFECTA
Caffey’s disease, Caffey-Silverman Syndrome
INFANTILE CORTICAL HYPEROSTOSIS
described by Caffey, Silverman, Smith and their coworkers
INFANTILE CORTICAL HYPEROSTOSIS
unusual cortical thickening in bones of infants without presence of cortical thickening diseases such as scurvy, rickets
INFANTILE CORTICAL HYPEROSTOSIS
ETIOLOGY
→ generally, unknown but a few theories have been suggested:
**embryonal osteodysgenesis consequent to a local defect in
the blood supply to the area
INFANTILE CORTICAL HYPEROSTOSIS
ETIOLOGY
inherited defect of arterioles supplying the affected part
results in hypoxia, producing focal necrosis of overlying soft
tissues and periosteal proliferation
INFANTILE CORTICAL HYPEROSTOSIS
ETIOLOGY
allergic phenomenon where edema and inflammation
produces periosteal elevation and subsequent deposition of
calcium
INFANTILE CORTICAL HYPEROSTOSIS
CLINICAL FEATURES
→ development of tender, deeply placed soft-tissue swellings and cortical thickening or hyperostosis involving various bones of the skeleton
INFANTILE CORTICAL HYPEROSTOSIS
→ arises either:
o during first three months of life
o may not appear before the second year
o in the fetus in utero
o within first few hours after birth
INFANTILE CORTICAL HYPEROSTOSIS
familial type appears to have an earlier onset than the sporadic type
INFANTILE CORTICAL HYPEROSTOSIS
→ mandible and the clavicles are most frequently affected
→ other bones affected include the calvarium, scapula, ribs,
tubular bones of the extremities, including the metatarsals
INFANTILE CORTICAL HYPEROSTOSIS
→ soft-tissue swellings:
o associated with deep muscles
o occur in locations where hyperostoses arise
o described in the scalp, face, neck, thorax, and extremities
INFANTILE CORTICAL HYPEROSTOSIS
→ other signs & symptoms: (not inevitably present)
o fever
o hyperirritability
o pseudoparalysis
o dysphagia
o pleurisy
o anemia
o leukocytosis
o monocytosis
o elevated sedimentation rate
o increased serum alkaline phosphatase
INFANTILE CORTICAL HYPEROSTOSIS
RADIOGRAPHIC FEATURES
→ involvement may be unilateral or bilateral
→ gross thickening and sclerosis of the cortex due to an actively
proliferating periosteum
INFANTILE CORTICAL HYPEROSTOSIS
course of disease not altered by sulfonamides or penicillin
INFANTILE CORTICAL HYPEROSTOSIS
Marie and Sainton’s Disease
CLEIDOCRANIAL DYSPLASIA
Scheuthauer-Marie-Sainton Syndrome,
CLEIDOCRANIAL DYSPLASIA
Mutational Dysostosis
CLEIDOCRANIAL DYSPLASIA
often but not always hereditary; when inherited, appears as a
dominant mendelian characteristic
CLEIDOCRANIAL DYSPLASIA
may be transmitted by either sex
CLEIDOCRANIAL DYSPLASIA
→ in sporadic cases, represent either:
o a recessively inherited disease
o incomplete penetrance in a genetic trait with variable gene
expression
o true new dominant mutation
CLEIDOCRANIAL DYSPLASIA
affects men and women with equal frequency
CLEIDOCRANIAL DYSPLASIA
abnormalities of the skull, teeth, jaws, and shoulder girdles
CLEIDOCRANIAL DYSPLASIA
in the skull:
o fontanels remain open or exhibit delayed closing and are thus, large
o suture may remain open and wormian bones are common
o sagittal suture is characteristically sunken, giving the skull a
flat appearance
CLEIDOCRANIAL DYSPLASIA
head is brachycephalic, or wide and short, with the
transverse diameter of the skull being increased
CLEIDOCRANIAL DYSPLASIA
→ in the shoulder girdle:
o ranges from:
- complete absence of clavicles
- partial absence or simple thinning of one or both clavicles
o patients have unusual mobility of shoulders and may bring shoulders forward until midline
CLEIDOCRANIAL DYSPLASIA
anomalous muscles may be secondary to bony involvement
CLEIDOCRANIAL DYSPLASIA
TREATMENT AND PROGNOSIS
→ no specific treatment but care for the oral conditions is important
→ retained deciduous teeth must be restored if carious since their extraction does not necessarily induce eruption of the permanent teeth
CLEIDOCRANIAL DYSPLASIA
utilization of the pedodentists, orthodontist, and oral surgeon can build potential for eruption of the permanent teeth using correct timing of surgical procedures for uncovering teeth and orthodontic repositioning for excellent functional results
CLEIDOCRANIAL DYSPLASIA
Crouzon disease or syndrome
CRANIOFACIAL DYSOSTOSIS
occurs without syndactyly
CRANIOFACIAL DYSOSTOSIS
→ genetic disease with a variety of cranial deformities, facial
malformations, eye changes, and others
→ follows a hereditary pattern through an autosomal dominant
trait
→ some cases have shown no hereditary or familial history
CRANIOFACIAL DYSOSTOSIS
ETIOLOGY
→ thought to result from a retardation or failure of differentiation of maxillary mesoderm at and after the 50 mm stage of the embryo
CRANIOFACIAL DYSOSTOSIS
→ all variations in appearance is due to early synostosis of the sutures
→ protuberant frontal region with an anteroposterior ridge overhanging the frontal eminence and often passing to the root of the nose (triangular frontal defect)
→ facial malformations consist of hypoplasia of the maxillae with mandibular prognathism and a high arched palate (cleft in some cases)
CRANIOFACIAL DYSOSTOSIS
→ facial angle is exaggerated
→ nose resembles a parrot’s beak
CRANIOFACIAL DYSOSTOSIS
→ eye changes include:
o hypertelorism
o exophthalmos with divergent strabismus and optic neuritis
o choked disks resulting frequently in blindness
CRANIOFACIAL DYSOSTOSIS
→ may present spina bifida occulta
→ mentality of patient may or may not be retarded
→ not all features are inevitably present
→ prognathic mandible may not be found
CRANIOFACIAL DYSOSTOSIS
craniectomy at an early age to provide space for the rapidly growing brain
CRANIOFACIAL DYSOSTOSIS
Treacher Collins syndrome
MANDIBULOFACIAL DYSOSTOSIS
Franceschetti syndrome
MANDIBULOFACIAL DYSOSTOSIS
→ encompasses a group of related defects of the head and face
→ hereditary or familial in pattern, following an irregular form of
dominant transmission
MANDIBULOFACIAL DYSOSTOSIS
→ antimongoloid palpebral fissures with a coloboma of the outer portion of the lower lids and deficiency of the eyelashes (and sometimes the upper lids)
→ hypoplasia of the facial bones, especially of the malar bones and mandible
MANDIBULOFACIAL DYSOSTOSIS
→ malformation of the external ear and occasionally the middle and internal ears
→ macrostomia, high palate (sometimes cleft) and abnormal position and malocclusion of the teeth
→ blind fistulas between the angles of the ears and the angles of the mouth
MANDIBULOFACIAL DYSOSTOSIS
→ atypical hair growth in the form a tongue-shaped process of the hairline extending towards the cheeks
→ other anomalies such as facial clefts and skeletal deformities
→ characteristic facies are described as “birdlike or fishlike” in
nature
→ teeth of upper jaw are unaffected
MANDIBULOFACIAL DYSOSTOSIS
→ malar bones are grossly and symmetrically underdeveloped → may be agenesis of the malar bones
→ nonfusion of the zygomatic arches
→ absence of palatine bones
MANDIBULOFACIAL DYSOSTOSIS
→ cleft palate may be visible
→ hypogenesis and sometimes agenesis of the mandible
→ underdeveloped paranasal sinuses
→ infantile and sclerotic mastoids
→ absent auditory ossicles and deficient cochlea and vestibular
apparatus
→ normal cranial vault
MANDIBULOFACIAL DYSOSTOSIS
Robin Anomalad
PIERRE ROBIN SYNDROME
the isolated defect is considered a sporadic or non-genetic
condition with a very low recurrence risk in the family
PIERRE ROBIN SYNDROME
→ if associated with other genetic syndromes, may carry a very high recurrence risk
→ commonly associated conditions:
o Stickler syndrome
o cerebrocostomandibular syndrome
o camptomelic syndrome
o persistent left superior vena cava syndrome
PIERRE ROBIN SYNDROME
consists of:
o cleft palate
o micrognathia
o glossoptosis
PIERRE ROBIN SYNDROME
→ the primary defect:
o arrested development
o ensuing hypoplasia of the mandible, producing
characteristic “bird facies” and preventing normal descent of the tongue between the palatal shelves, resulting in cleft palate
o cleft lip does not occur in association with the cleft palate
PIERRE ROBIN SYNDROME
→ respiratory difficulty
o most important result of jaw malformation
o it is suggested that failure of support of tongue musculature
occurs because of micrognathia, allowing tongue to fall
down and backward, partially obstructing the epiglottis
PIERRE ROBIN SYNDROME
→ other systemic defects:
o congenital heart defects
o skeletal anomalies
o ocular lesions
o mental retardation
PIERRE ROBIN SYNDROME
Marfan-Achard syndrome
MARFAN SYNDROME
Arachnodactyly
MARFAN SYNDROME
→ hereditary disease through an autosomal dominant trait
→ disease of connective tissue related to defective organization of
collagen
MARFAN SYNDROME
o collagen is abnormally soluble
o reduced amounts of chemically stable forms of
intermolecular cross-links
o attenuation of non-enzymatic steps in maturation of
collagen
MARFAN SYNDROME
→ excessive length of the tubular bones resulting in dolichostenomelia or disproportionately long thin extremities and arachnodactyly or spidery fingers
→ shape of skull and face is long and narrow
CLINICAL FEATURES
other features:
o hyperextensibility of joints with habitual dislocations
o kyphosis or scoliosis
o flatfoot
MARFAN SYNDROME
o bilateral ectopia lentis
o myopia
o aortic aneurysm
o aortic regurgitation
MARFAN SYNDROME
vascular defects
o enlargement of the heart
MARFAN SYNDROME
Trisomy 21 syndrome, Mongolism
DOWN SYNDROME
associated with subnormal mentality
DOWN SYNDROME
causative factors:
o advanced maternal age
o uterine and placental abnormalities
o chromosomal aberration
DOWN SYNDROME
3 forms of DOWN SYNDROME
Typical type
Translocation Type
Chromosomal Mosaicism
47 chromosomes
A. Typical type
B. Translocation Type
C. Chromosomal Mosaicism
A
46 chromosomes
A. Typical type
B. Translocation Type
C. Chromosomal Mosaicism
B
→ more commonly born to mothers under 30
years of age
→ incidence of mongolism in subsequent
siblings may greatly increase in such
instances
→ rare in mothers over 40 years of age
A. Typical type
B. Translocation Type
C. Chromosomal Mosaicism
B
affected individuals have an increased incidence of acute leukemia, especially children
DOWN SYNDROME
CLINICAL FEATURES:
flat face
large anterior fontanel
open sutures
small, slanting eyes with epicanthal folds
DOWN SYNDROME
→ open mouth
→ frequent prognathism
→ sexual underdevelopment
→ cardiac abnormalities
→ hypermobility of the joints
DOWN SYNDROME
Marble Bone disease
OSTEOPETROSIS
ALbers-Schonberg disease
OSTEOPETROSIS
Osteosclerosis Fragilis Generalisata
OSTEOPETROSIS
subdivided into:
o benign dominantly inherited form
o malignant recessively inherited form
OSTEOPETROSIS
more severe form of the disease
A. MALIGNANT RECESSIVE OSTEOPETROSIS
B. BENIGN DOMINANT OSTEOPETROSIS
A
Present at birth and early life
A. MALIGNANT RECESSIVE OSTEOPETROSIS
B. BENIGN DOMINANT OSTEOPETROSIS
A
→ the earlier the disease appears, the more serious it is
→ affected infants are usually stillborn or die after birth
A. MALIGNANT RECESSIVE OSTEOPETROSIS
B. BENIGN DOMINANT OSTEOPETROSIS
A
→ common clinical manifestations:
o optic atrophy (most common)
o hepatosplenomegaly
o poor growth
o frontal bossing
o pathologic fractures o loss of hearing
o facial palsy
o genu valgum
A. MALIGNANT RECESSIVE OSTEOPETROSIS
B. BENIGN DOMINANT OSTEOPETROSIS
A
→ death is a result of anemia or secondary infection
→ no known patient survives beyond 20 years
A. MALIGNANT RECESSIVE OSTEOPETROSIS
B. BENIGN DOMINANT OSTEOPETROSIS
A
→ less severe type of disease
→ develops later in life
→ patients can survive into old age
→ half of patients are totally asymptomatic
A. MALIGNANT RECESSIVE OSTEOPETROSIS
B. BENIGN DOMINANT OSTEOPETROSIS
B
→ common clinical manifestations:
o pathologic fractures, often multiple (most common)
o bone pain
o cranial nerve palsy including optic and facial
o osteomyelitis
A. MALIGNANT RECESSIVE OSTEOPETROSIS
B. BENIGN DOMINANT OSTEOPETROSIS
B
RADIOGRAPHIC FEATURES
→ diffuse, homogeneous, symmetrically sclerotic appearance of all bones
→ clubbing and transverse striations of the ends of the long bones
→ medullary cavities are replaced by bone
→ thickened cortex
→ on occasions, jaw may be spared; however, when affected,
roots of teeth are nearly invisible
OSTEOPETROSIS
→ endosteal production of bone
→ concomitant lack of physiologic bone resorption
→ prominent osteoblasts but seldom osteoclasts
OSTEOPETROSIS
→ persistence of cartilaginous cores of bony trabeculae long after
their replacement should have occurred in endochondral bones → disorderly arrangement of trabeculae
→ fibrous marrow tissue
→ in benign osteopetrosis, patients do not have a deficiency in
osteoclastic activity but rather an abnormality in the type and structure of bone
OSTEOPETROSIS
→ no effective treatment
→ depletion of vitamin D or administration of vitamin A has failed
to modify the course of the disease
OSTEOPETROSIS
Chondrodystrophia Fetalis
ACHONDROPLASIA
→ disturbance of endochondral bone formation, resulting in a
characteristic form of dwarfism
ACHONDROPLASIA
→ hereditary condition through autosomal dominant trait
→ begins in utero and may be diagnosed before parturition
→ high mortality rate
→ affected infants are usually stillborn or die after birth
ACHONDROPLASIA
→ short height and stature of patient
→ short and thickened muscular extremities
→ brachycephalic skull
→ bowed legs
→ small hands and stubby fingers
ACHONDROPLASIA
→ lumbar lordosis with prominent buttocks
→ protruding abdomen
→ limitation of motion in numerous joints
o arms do not hang freely at the side
o elbows often cannot be straightened
→ normal intelligence
→ unusual strength and agility
ACHONDROPLASIA
→ long bones are shorter than normal
→ thickening or mild clubbing of ends of bones
→ epiphyses appear normal but may close either early or late
→ bones at the base of the skull fuse prematurely, producing
shortening as well as a narrow foramen magnum
ACHONDROPLASIA
→ disturbances in the epiphyseal cartilage of long bones and ribs as well as in certain membrane bones of the base of the skull
→ retardation or aplasia of the zone of provisional calcification of endochondral growth
ACHONDROPLASIA
→ lack of orderly arrangement of cartilage columns, failure to calcify properly which are not resorbed and replaced by bone in the usual fashion
→ defective chondrocyte development causing disruption of longitudinal growth of bone and stunting of the bone
ACHONDROPLASIA
→ no treatment
→ if patient survives past first few years of life, it is expected that
he will have a normal life expectancy
ACHONDROPLASIA
→ Paget’s disease of bone
→ chronic disease that develops slowly
OSTEITIS DEFORMANS
→ generally unknown but numerous theories have been suggested:
o inflammatory causes
o circulatory disturbance
o breakdown in normal mechanism of creeping replacement
to which bone is constantly subjected
o infection by a “slow” virus
OSTEITIS DEFORMANS
One of the best known “slow” viral human diseases is ______
subacute sclerosing panencephalitis
CLINICAL FEATURES:
→ predominantly in patients over 40 years of age
→ both sexes are affected with a slight predilection for men
OSTEITIS DEFORMANS
→ common symptoms:
o bone pain
o severe headache
o deafness (due to involvement of the petrous portion of the
temporal bone of the cochlear nerve in its foramen)
o blindness or other visual disturbances
o facial paralysis (due to pressure on the facial nerve)
o dizziness
o weakness
o mental disturbance
OSTEITIS DEFORMANS
→ common features:
o progressive enlargement of the skull
o deformities of the spine, femur, and tibia, making the
patient shorter
o bowing of the legs
o broadening and flattening of the chest and spinal curvature
o pathologic fractures
OSTEITIS DEFORMANS
→ patient assumes a “simian” appearance and facial pattern may become grotesque
OSTEITIS DEFORMANS
→ bones:
o become warm to the touch due to increased vascularity
o increased fragility with tendency for fracture
o fracture healing is normal but callus may be abundant
OSTEITIS DEFORMANS
→ depend upon the stage of the disease:
o initial phase of deossification and softening
o followed by bizarre, dysplastic type of reossification not
related to functional requirements
o the two processes taking place simultaneously or alternately
OSTEITIS DEFORMANS
→ osteolytic areas of the skeleton are commonly associated with areas of osteoblastic activity
→ destructive lesions may be multiple and diffuse or isolated
o isolated lesions in the skull, when large, is sometimes
referred to as “osteoporosis circumscripta”
OSTEITIS DEFORMANS
→ osteoblastic ares appear as opacities and are patchy in
distribution, eventually becoming confluent, but still showing minute areas of radiodensity
o this patchiness has been termed as “cotton-wool
appearance”
→ hypercementosis in the teeth and loss of a well-defined lamina
dura
→ root resorption can also occur but is unusual
OSTEITIS DEFORMANS
→ depends upon the stage of the disease
→ osteoclastic and osteoblastic activity
→ formation of “mosaic” bone, which appears as partially
resorbed and then repaired bone leaving deeply staining hematoxyphilic reversal lines
o these lines indicate the alternation between the resorptive
and formative phases
o these lines eventuate in a “jigsaw-puzzle” appearance of
the bone
OSTEITIS DEFORMANS
→ fibrous marrow, inflammatory edema and focal collections of
lymphocytes
→ the more rapidly bone is laid down, the more immature it is and
the greater amounts of osteoid one may find
→ bone changes from a fibrillar type to mature lamellar as bone
formation lags and resting phase is reached
→ obliteration of the PDL
OSTEITIS DEFORMANS
→ no specific treatment
→ use of calcitonin and diphosphonates has been utilized to
suppress bone resorption
OSTEITIS DEFORMANS
TREATMENT AND PROGNOSIS
→ use of mithramycin has been done but has serious side effects
OSTEITIS DEFORMANS
Van Buchem disease or syndrome
GENERALIZED CORTICAL HYPEROSTOSIS
Endosteal Hyperostosis
GENERALIZED CORTICAL HYPEROSTOSIS
→ excessive deposition of endosteal bone throughout the skeleton
→ hereditary condition through autosomal recessive characteristic
GENERALIZED CORTICAL HYPEROSTOSIS
→ usually not discovered until adult life
→ facial appearance may be altered
→ face may appear swollen, particularly with widening at the angles of the mandible and bridge of the nose
→ loss of visual acuity
→ loss of facial sensation
→ some degree of facial paralysis
→ deafness
→ overgrowth of the alveolar process
GENERALIZED CORTICAL HYPEROSTOSIS
RADIOGRAPHIC FEATURES
→ increased density of many bones of the body, though hands and feet may be unaffected
→ skull exhibits diffuse sclerosis as may the jaws
GENERALIZED CORTICAL HYPEROSTOSIS
normal dene bone without evidence of remodeling
GENERALIZED CORTICAL HYPEROSTOSIS
Vanishing Bone, Disappearing Bone, Phantom Bone
MASSIVE OSTEOLYSIS
Progressive Osteolysis, Gorham Syndrome
MASSIVE OSTEOLYSIS
→ spontaneous, progressive resorption of bone with ultimate total disappearance of the bone
→ unknown etiology but may be related to active hyperemia of bone
→ different from: osteolysis associated with an infection and osteolysis associated with disease of the CNS
MASSIVE OSTEOLYSIS
CLINICAL FEATURES
→ most common in older children and young and middle-aged adults
→ affects both sexes equally
→ only one bone is usually affected; polyostotic cases can occur in
others
→ most commonly affected bones include: clavicle, scapula,
humerus, ribs, ilium, ischium, and sacrum
→ may or may not be painful
→ begins suddenly and advances rapidly until bone is replaced by
a thin layer of fibrous tissue surrounding a cavity
MASSIVE OSTEOLYSIS
HISTOLOGIC FEATURES
replacement of bone by connective tissue containing many thin-walled blood vessels or anastomosing vascular spaces lined by endothelial cells
MASSIVE OSTEOLYSIS
TREATMENT AND PROGNOSIS
→ no specific treatment
→ radiation therapy and surgical resection
→ if left untreated, can progress to total destruction of involved
bone
MASSIVE OSTEOLYSIS
can be either:
Monostotic
Polyostotic
FIBROUS DYSPLASIA OF BONE
→ only a single bone is involved
→ does not manifest extraskeletal lesions
Monostotic
→ can either be:
o involving a variable number of bones,
although most of the skeleton is normal, accompanied by pigmented lesions of the skin or “cafe-au-lait” spots (Jaffe’s type)
o involving nearly all bones in the skeleton and accompanied by pigmented lesions of the skin and endocrine disturbances (Albright’s syndrome)
Polyostotic
→ manifests early in life
→ evident deformity, bowing or thickening of long bones, often
unilateral in distribution
→ onset is insidious but recurrent bone pain is most common
→ bones of face and skull are frequently involved and asymmetry
may result
→ other bones involved include: clavicles, pelvic bones, scapulae,
long bones, metacarpals, and metatarsals
A. POLYOSTOTIC FIBROUS DYSPLASIA
B. MONOSTOTIC FIBROUS DYSPLASIA OF THE JAWS
A
→ spontaneous fractures resulting in invalidism
→ skin lesions:
o irregularly pigmented melanotic spots
o described as “cafe-au-lait” spots because of light brown
color
→ female patients may exhibit precocious puberty, beginning at
2-3 years of age or younger
o vaginal bleeding is common
→ endocrine disturbances such as pituitary, thyroid, parathyroid
and ovary
→ intramuscular soft-tissue myxomas
A. POLYOSTOTIC FIBROUS DYSPLASIA
B. MONOSTOTIC FIBROUS DYSPLASIA OF THE JAWS
A
RADIOGRAPHIC FEATURES
→ medullary portions of bone are rarefied and present irregular trabeculations, often a multilocular cystic appearance
→ thinned cortical bone and considerably expanded
A. POLYOSTOTIC FIBROUS DYSPLASIA
B. MONOSTOTIC FIBROUS DYSPLASIA OF THE JAWS
A
→ lesions composed of fibrillar connective tissue within which are numerous trabeculae of coarse, woven fiber bone, irregular in shape but evenly spaced, showing no relation to functional patterns
→ large osteocytes
A. POLYOSTOTIC FIBROUS DYSPLASIA
B. MONOSTOTIC FIBROUS DYSPLASIA OF THE JAWS
A
→ collagen fibers of trabeculae extending out into the fibrous
tissue
→ bone formation by stellate osteoblasts
→ wide osteoid seams of trabeculae
A. POLYOSTOTIC FIBROUS DYSPLASIA
B. MONOSTOTIC FIBROUS DYSPLASIA OF THE JAWS
A
TREATMENT AND PROGNOSIS
→ surgical treatment for mild cases; impossible treatment for severe cases
→ x-ray radiation
→ prognosis depends upon degree of involvement of the skeleton
A. POLYOSTOTIC FIBROUS DYSPLASIA
B. MONOSTOTIC FIBROUS DYSPLASIA OF THE JAWS
A
less serious but of greater concern to the dentist due to frequent jaw involvement
A. POLYOSTOTIC FIBROUS DYSPLASIA
B. MONOSTOTIC FIBROUS DYSPLASIA OF THE JAWS
B
→ unknown but theories have been suggested:
o aberrant activity in the bone-forming mesenchymal tissue
o local infections or trauma that may eventuate the disease
under certain conditions
o reparative reaction of the bone to injury
A. POLYOSTOTIC FIBROUS DYSPLASIA
B. MONOSTOTIC FIBROUS DYSPLASIA OF THE JAWS
B
→ equal predilection for males and females
→ more common in children and young adults than in older persons
→ painless swelling or bulging of the jaw
o first clinical sign of the disease
o usually involves labial or buccal plate
o sometimes causes a protuberant excrescence of the inferior
border when mandible is involved
A. POLYOSTOTIC FIBROUS DYSPLASIA
B. MONOSTOTIC FIBROUS DYSPLASIA OF THE JAWS
B
→ malalignment, tipping or displacement of teeth
→ mucosa is intact over the lesion
→ in the maxilla:
o has a marked predilection for children
o impossible to eradicate without radical, mutilating surgery
o lesions are not well-circumscribed and extend locally to
involve the maxillary sinus, zygomatic process and floor of the orbit and even the base of the skull
o severe malocclusion and bulging of canine fossa or extreme prominence of zygomatic process, producing a marked facial deformity
→ sometimes referred to as craniofacial fibrous dysplasia
A. POLYOSTOTIC FIBROUS DYSPLASIA
B. MONOSTOTIC FIBROUS DYSPLASIA OF THE JAWS
B
→ has (3) basic patterns:
o lesion is a small unilocular radiolucency or larger
multilocular radiolucency, both with a well-circumscribed
border and network of fine bony trabeculae
o similar to first except that increased trabeculation renders
lesion more opaque and mottled in appearance
o opaque lesion with many delicate trabeculae giving a “ground-glass” or “peau d’ orange” appearance; not
well-circumscribed but blends into adjacent bone
A. POLYOSTOTIC FIBROUS DYSPLASIA
B. MONOSTOTIC FIBROUS DYSPLASIA OF THE JAWS
B
→ all three types may be found in either maxilla or mandible
→ cortical bone is thinned
→ roots of teeth may be separated or moved out of normal
position but only occasionally exhibit severe resorption
o bone may be so opaque that roots of teeth may be
indistinct or not visible
→ thickening of base of the skull
A. POLYOSTOTIC FIBROUS DYSPLASIA
B. MONOSTOTIC FIBROUS DYSPLASIA OF THE JAWS
B
HISTOLOGIC FEATURES
→ fibrous lesion made up of proliferating fibroblasts in a compact stroma of interlacing collagen fibers
A. POLYOSTOTIC FIBROUS DYSPLASIA
B. MONOSTOTIC FIBROUS DYSPLASIA OF THE JAWS
B
→ irregular trabeculae of bone
with no definite pattern of
arrangement
→ C-shaped trabeculae or Chinese character-shaped
A. POLYOSTOTIC FIBROUS DYSPLASIA
B. MONOSTOTIC FIBROUS DYSPLASIA OF THE JAWS
B
TREATMENT AND PROGNOSIS
→ surgical removal of the lesion
o however, most lesion have
become too large by time of diagnosis and surgical excision will lead to facial deformity
or weakening of bone leading to pathologic fracture
o lesions of ground-glass appearance are not circumscribed
and would have to be block-resected
→ majority of cases are treated by conservative removal of
portion of the lesion contributing to facial deformity
A. POLYOSTOTIC FIBROUS DYSPLASIA
B. MONOSTOTIC FIBROUS DYSPLASIA OF THE JAWS
B
Familial Fibrous Dysplasia of the Jaws,
CHERUBISM
Disseminated Juvenile Fibrous Dysplasia
CHERUBISM
Familial Multilocular Cystic Disease of the Jaws,
CHERUBISM
Familial Fibrous Swelling of the Jaws,
Hereditary Fibrous Dysplasia of the Jaws
CHERUBISM
CLINICAL FEATURES
→ manifests early in childhood, often at 3-4 years of age
→ progressive, painless, symmetric swelling of the jaws, mandible or maxilla, producing typical chubby face suggestive of a cherub
→ mostly involve only the mandible
CHERUBISM
→ jaws are firm and hard to palpation and reactive regional lymphadenopathy may be present
→ enlarged palate
→ no associated systemic manifestations
→ may have pigmented skin lesions similar to those in polyostotic
fibrous dysplasia
→ deciduous dentition may be shed prematurely, beginning as
early as 3 years of age
→ defective permanent dentition with absence of numerous teeth
and displacement and lack of eruption of those present
→ intact oral mucosa of normal color
CHERUBISM
RADIOGRAPHIC FEATURES
→ extensive bilateral destruction of bone of one or both jaws with expansion and severe thinning of the cortical plates
→ body of bone may present multilocular appearance
→ perforation of cortex may occur
→ ramus may be involved but condyle is usually spared
→ numerous unerupted and displaced teeth which appear to be
floating in cystlike spaces
CHERUBISM
HISTOLOGIC FEATURES
→ great numbers of large multinucleated giant cells in a loose, delicate fibrillar connective tissue stroma containing large numbers of fibroblasts and many small blood vessels
→ inflammatory cells in lesions
→ epithelial remnants of developing teeth
→ perivascular, eosinophilic cuffing of the small capillaries
CHERUBISM
TREATMENT AND PROGNOSIS
→ though progresses rapidly during early childhood, tends to become static and may regress as patient approaches puberty
→ surgical correction of jaws
→ radiation therapy is contraindicated
CHERUBISM
True or false
GENERALIZED CORTICAL HYPEROSTOSIS
TREATMENT AND PROGNOSIS
→ no treatment
→ patients may lead a normal life
True
True or false
MARFAN SYNDROME
TREATMENT AND PROGNOSIS
no specific treatment good prognosis
True
True or false
OSTEOGENESIS IMPERFECTA
→ no known treatment
True
Abnormality in the type 1 colllagen (bone ligament, dentin, and sclera)
OSTEOGENESIS IMPERFECTA
Decrease bone mass
OSTEOGENESIS IMPERFECTA
Abnormal electrical response of muscle
OSTEOGENESIS IMPERFECTA
True or false
In OSTEOGENESIS IMPERFECTA the skin is thin and translucent
True
True or false
In OSTEOGENESIS IMPERFECTA there is subcutaneous capillary bleeding
True
True or false
In OSTEOGENESIS IMPERFECTA there head is triangular-shaped and they are deaf
True
teeth: bulbous crowns, with narrow, constricted roots and obliterated canals
OSTEOGENESIS IMPERFECTA
True or false
In OSTEOGENESIS IMPERFECTA the color of the teeth is blue-gray to yellowish-brown
True
Treatment and Prognosis:
> no definite treatment (bisphonates)
> immobilization of fractures
> may improve after puberty
OSTEOGENESIS IMPERFECTA
Clinical Features:
1. tender, deeply-placed soft tissue swellings
2. systemic manifestations
3. cortical thickening
Infantile Cortical Hyperostosis
DOral Manifestations:
1. assymetric deformity of mandible
2. facial swelling
Infantile Cortical Hyperostosis
There’s swelling but cannot find the cause
INFANTILE CORTICAL HYPEROSTOSIS
Cortical thickening
INFANTILE CORTICAL HYPEROSTOSIS
“ wormian bone”
CLEIDOCRANIAL DYSPLASIA
Vertical midline furrow with frontal bossing
CLEIDOCRANIAL DYSPLASIA
Depressed mid face
Prominent chin
CLEIDOCRANIAL DYSPLASIA
Sutures close early
CRANIOFACIAL DYSOSTOSIS
occurs without syndactyly
CRANIOFACIAL DYSOSTOSIS
Spina bifida occulta
CRANIOFACIAL DYSOSTOSIS
Triangular frontal defect
Steep forehead
CRANIOFACIAL DYSOSTOSIS
Oral feauture:
Hypoplasia of maxilla
Mandibular pronathism
High arched palate
CRANIOFACIAL DYSOSTOSIS
Coloboma of the outer portion of the lower eyelids
Dificiency of eyelashes
MANDIBULOFACIAL DYSOSTOSIS
Malformation of middle and inner ear
Ear is underdeveloped, malformed, prominent
MANDIBULOFACIAL DYSOSTOSIS
Parrot beak nose
Frog like features
CRANIOFACIAL DYSOSTOSIS
Small chin
Bird like or fish like features
MANDIBULOFACIAL DYSOSTOSIS
In PIERRE ROBIN SYNDROM, what defect is this?
micrognathia
Primary defect
In PIERRE ROBIN SYNDROM, what defect is this?
Cleft palate
Secondary defect
In PIERRE ROBIN SYNDROM, what defect is this?
Respiratory difficulty
Tertiary defect
In PIERRE ROBIN SYNDROM, what defect is this?
Glossoptosis
Tertiary defect
Spider like
MARFAN SYNDROME
Defect on chromosome 15 codes for the connective tissue protein, fibrillin
MARFAN SYNDROME
Musculoskeletal, cardiac and ocular problems predominate
MARFAN SYNDROME
Funnel chest pr pigeon breast
MARFAN SYNDROME
Kyphosis/ scoliosis
MARFAN SYNDROME
True or false
Pale blue sclera can be seen in MARFAN SYNDROME and osteogenesis imperfecta
True
Bifid uvula, High arched palate, odontogenic cyst, TMJ dysarthrosis, malocclusion are the oral manifestations in?
MARFAN SYNDROME
High arched palatal vault and maloclussion of maxilla
MARFAN SYNDROME
Txt:
No specific txt.
Management of the cardiovascular manifestations
MARFAN SYNDROME
Cardiovascular compromise is the most common cause of patient death
MARFAN SYNDROME
“Blushfields type”
DOWN SYNDROME
Etiology:
Advanced maternal age
Uterine and placental abnormalities
DOWN SYNDROME
Features:
Short stature with short hands and fingers and may have an acute leukemia
DOWN SYNDROME
ORAL MANIFESTATIONS:
macroglossia ( pebbled tongue)
Open mouthed appearance
DOWN SYNDROME
True or false
DOWN SYNDROME has an bifid ovula and the teeth has a short roots
True
Failure of osteoclastic bone resorption leads to increased bone mass
OSTEOPETROSIS
Thickened and uniformly sclerotic bones
Increased bone fragility
OSTEOPETROSIS
hepatosplenomegaly
genu valgum
A. Benign dominant
B. Malignant recessive
B
OSTEOPETROSIS
In OSTEOPETROSIS
Optic atrohy
Frontal bossing
Poor growth
A. Benign dominant
B. Malignant recessive
B.
In OSTEOPETROSIS
Pathologic fractures
Loss of hearing
Facial palsy
A. Benign dominant
B. Malignant recessive
B
In osteopetrosis
A. Benign dominant
B. Malignant recessive
Multiple pathologic fracture
Bone pain
A
In osteopetrosis
A. Benign dominant
B. Malignant recessive
Cranial nerve palsy
Osteomyelitis
A
Radiographic Features:
1. roots of teeth “invisible”
2. dense bone
3. obliterated sinuses
4. hypoplastic maxilla
OSTEOPETROSIS
Treatment:
Calcitriol, Erythropoietin’ Corticosteroids,
Gamma interferon
A. Adult osteopetrosis
B. Infantile osteopetrosis
B
requires no treatment by itself complications might require intervention.
A. Adult osteopetrosis
B. Infantile osteopetrosis
A
short stature with thickened musculature
ACHONDROPLASIA
brachycephalic skull
ACHONDROPLASIA
lumbar lordosis
ACHONDROPLASIA
Small hands and stubby fingers
limited joint movement
unusual physical strength and ability
normal intelligence
ACHONDROPLASIA
Oral Features:
1. mandibular prognathism / maxillary retrusion
ACHONDROPLASIA
Histologic Features:
1. aplasia of the zone of calcification of endochondral growth
2. disruption of the longitudinal growth of bone
ACHONDROPLASIA
Dentures becoming tight overtime
Has hypercementosis
OSTEITIS DEFORMANS
“Cotton-wool” appearance
Prone to osteosarcoma (bone cancer)
OSTEITIS DEFORMANS
Affected bones (sacral and lumbar vertebrae, pelvis, tibia, femur) soften and bend
OSTEITIS DEFORMANS
Oral Manifestations:
1. progressive enlargement of maxilla with widening and flattening of the palate
2. teeth: loose, migrating
3. open-mouth appearance
OSTEITIS DEFORMANS
Late onset: 40 yrs old and beyond
OSTEITIS DEFORMAN
Histologic Feature:
1. mosaic-bone appearance or jigsaw puzzle appearance of bone resorption and deposition
OSTEITIS DEFORMAN
Features:
1. swelling at the angles of the mandible and bridge of nose
2. loss of vision and facial sensation
3. facial paralysis
4. deafness
5. overgrowth of alveolar process
GENERALIZED CORTICAL HYPEROSTOSIS
• Features:
1. pathologic fractures after minor trauma
2. destruction of mandible
3. facial asymmetry
4. polyostotic: clavicle, ilium, ishium, humerus, ribs, sacrum
MASSIVE OSTEOLYSIS
osteolytic process involving the whole of the femur
MASSIVE OSTEOLYSIS
“Orange peel” appearance
FIBROUS DYSPLASIA OF BONE
> Lesions affecting multiple bones (Polyostotic Fibrous
Dyplasia)
> Café-au-lait pigmentation
• Endocrine disturbances
McCune-Albright Syndrome)
> Pathologic fractures with pain and deformity
> Teeth: disturbed eruption pattern; jaw expansion
> Histologic feature: Chinese script-writing appearance
McCune-Albright Syndrome)
- massive jaw expansion
Monostotic Fibrous Dysplasia
Leontiasis ossea
Monostotic Fibrous Dysplasia
Treatment of ______
> Surgery: mainly to alleviate functional disturbances
radiation therapy is contraindicated
Fibrous Dysplasia
Treatment of ______ :
> Surgery: mainly to alleviate functional disturbances
radiation therapy is contraindicated
Fibrous Dysplasia
Soap bubble appearance
CHERUBISM
Eyes upturned to heaven
Angel appearance
CHERUBISM
> Displacement of follicles of permanent teeth
> Permanent teeth may be missing or malformed
CHERUBISM
> Ectopic eruption
CHERUBISM
Tx: self-limiting ; conservative curettage of lesion with bone recontouring
CHERUBISM
- bilateral expansion of rami
Cherubism
