Oral Path VI - GMFF Flashcards
Term used to describe host of Genetic Diseases including OI, Osteoporosis, Cleidocranial dysplasia, cherubism, hypophosphatasi, vitD resistant Rickets
Metabolic diseases like Rickets, osteomalcia, hyperparathyroidism, renal osteodystrophy
Others: Pagets, fibrous dysplasia, aneurysmal bone cyst, idopathic osteosclerosis, focal osteoprotic bone marrow defect, MRONJ
Osteodystrophy
What is the most common inherited bone disease?
Osteogenesis Imperfecta
OI is a mutation is what type collagen?
either this gene on this chromosome:
or this gene on this chromosome:
Collagen type I
COL1A1, Chromosome 17
COL1A2, Chromosome 7
OI, includes bone fragility/deformity, joint ________, loss of ________, blue _____
______ teeth if dentinogenesis imperfecta
hyperextensibility, hearing, sclera
opalescent
OI type I-IV inherited how?
Autosomal Dominant or Recessive
*severity varies
Abnormal collagen in OI results in bone with thin ______
Osteoporosis, soft, prone to fracture, bowing, angulation, deformity
Cortex
OI Tx: Physiotherapy, Ortho surgery, and what drugs?
Bisphosphonates (either IV or oral)
Long term use in Bisphosphonates for pedo pts with OI is unknown
True
Marble Bone Disease:
Osteoporosis
Osteoporosis (marble bone disease) is a defect in _______ function
Mutation in the _____ subunit of the osteoclast vacuolar proton pump (50-60%)
More severe form is a mutation in the _______ (CLCN7, 10-15%)
osteoclast
A3
Chloride
Infantile osteoporosis inherited how?
Adult osteoporosis inherited how?
Autosomal Recessive
Auto Dominant
Infantile Osteoporosis (AutoRecessive) is severe, sclerotic, ______ failure, _____ deformity, and _______ deficit
Adult osteoporosis (AutoDom) is mild and __% asymptomatic
Marrow, Facial, Neuro
40%
In osteoporosis bones are more dense, but more fragile
True
Osteoporosis dental considerations: 2 complications post extraction?
Fracture
Osteomyelitis
Infantile Osteoporosis the prognosis is ______
Adult has ______ prognosis,
Tx (adult) is _______
poor
variable
marrow
Cleidocranial dysplasia is genetic and a defect in the differentiation of _______ and a subset of _______
osteoblasts
chondrocytes
Defect in osteoblasts and a subset of chondrocytes
Cleidocranial Dysplasia
Cleidocranial dysplasia inheritance is:
or:
Specifically a mutation on the _____ gene of chr ____
AutoDom
Somatic mutation
RUNX2, 6p21
Short stature, frontal bossing, patent fontanels, late closure of cranial sutures, absence/hypoplasia of clavicles:
Cleidocranial Dysplasia
Cleidocranial Dysplasia - describe 3 aspects affect teeth:
Deciduous retention
Delayed eruption permanent teeth
Supernumerary
Prognosis, Cleidocranial dysplasia:
Plan dental Tx on clinical findings
good
True
Cherubism inheritance:
chr ______
or…
AutoDom
4p16
spontaneous
Cherubism Mn manifestations:
Mx manifestations:
bilateral posterior painless swelling
swelling pushes orbits up, rounds face
Avg age Cherubism:
Radiographic
7
Mn multilocular, bilateral, posterior lucencies w/ Mx involvement
Cherubism histopathology is a _____ cell lesion
aka…
Post pubertal
giant
granuloma
stabilization
Mutations of non-specific alkaline phosphatase:
Hypophosphatasia
Hypophosphatasia is _______ expressive (auto dom/rec)
Reduced levels of _____ in liver, bone, kidney, intestine, serum
Increased levels of blood/urinary _______
Bone abnormalities similar to ________
Premature loss of Teeth due to lack of _______
variably
ALP (alkaline phosphatase)
phospho-athanolamine
Rickets
Cementum
Vitamin D resistant Rickets, aka
Hereditary hypophosphatemia
Vitamin D-resistant Rickets (hereditary hypophosphatemia) varies in severity, but is inherited how?
Mutation on the ______ gene, which regulated ____
This causes decreased resorption of phosphate from ________ and decreased intestinal absorption of ______
X-linked Dominant
PHEX, PO4
Renal Tubules, Calcium
VitaminD-resistant Rickets, manifests as shortened ______
Pulp horns extend into ______
Dentin ____
Periapical ______
Lower body
DEJ
cleft
abscess
Metabolic diseases associated w/ VitaminD-resistant Rickets: Rickets and _______
Hyperparathyroidism and _______
Osteomalacia
Osteodystrophy
What causes good ol fashioned Rickets?
Causes growth retardation, prominence of _________, and _______ of the legs
VitD deficiency during Infancy
costochondra junctions (rachitic rosary), bowing
In adulthood, Vitamin D deficiency (instead of Rickets), causes…
3 manifestations:
Osteomalacia
weak bone, fractures, diffuse skeletal pain
Primary Hyperparathyroidism is caused by _______ (80-90%)
or ________ in pts over 60 y/o
more often found in what sex?
parathyroid adenoma
hyperplasia
female
Secondary Hyperparathyroidism is secondary to chronic _______
which causes malabsorption of ________ and ______
Renal disease
Vitamin D by kidney, Calcium in intestine
*increases PTH to get Ca out of bone
Stones, bones, and abdominal groans…
Hyperparathyroidism
Hyperparathyroidism, supperiosteal resorption seen where?
Loss of the ______
Trabecular pattern of _______
Brown tumor ________
Renal _______
phalanges of fingers
lamina dura
Ground Glass
radiolucency
osteodystrophy (secondary hyperparathyroidism)
Hyperparathyroidism, ulcers seen where?
Histo of brown tumor indistinguishable from what?
Complication of secondary hyperparathyroidism is ESRD
Enlargment seen where?
Duodenum
Giant cell granuloma
True
Jaws
Ground Glass Pattern, Fibro-osseous lesions
Hyperparathyroidism
Accelerated resorption and deposition of bone. Osteoblasts win and bones become sclerotic, large, and brittle
Paget’s disease of bone
Paget’s disease disproportionally affects what population:
Can be bone pain, weakened bone, or asymptomatic
white, male, over 40
True
Paget’s is caused by a ______ infection and a predisposing _____ factor
Paramyxovirus
Genetic
Well defined Radiolucency, mixed lucency/opacity, cotton wool-like radiolucency
Generalized hypercementosis
Paget’s
Paget’s Histology depends on the stages
True
Dx Pagets, alkaline phosphatase
Calcium
Urinary hydroxyproline
increased
same
increased
2 complications of Paget’s
fracture
malignant transformation
Fibrous Dysplasia is a ____ zygotic mutation of _______ gene 20q13.2
guanine nucleotide-binding protein, alpha stimulating activity polypeptide
This encodes for the _______ subunit that activates _______ and ______
Affects the differentiation of pre________
Bones replaced with what?
post-zygotic, GNSA1
True
G protein, adenylyl cyclase, cAMP
osteoblasts
Fibrous tissue (immature bone)
% Fibrous Dysplasia involving only 1 bone (monostotic):
Polystotic w/ cafe au lait spots:
Polystotic w/ cafe au lait + endocrinopathy:
80-85%
Jaffe-Lichtenstein Syndrome
McCune-Albright Syndrome
Fibrous dysplasia usually seen at what age?
Males or Females?
Long bone problem:
Craniofacial involved in _____ and may compress vital structures like the ______ nerve and result in Blindness
1-2 decades
=
pain/fracture
1/3, Optic Nerve
McCune-Albright Syndrome is a type of what?
Somatic mosaicism accounts for ______
Increases endocrine function in what 2 places?
Sexually precocious girls, cafe au lait w/in 1st 2 yrs
Craniofacially involved in _____ , morbidity associated w/ GH
Fibrous Dysplasia
clinical diversity
gonads, thyroid
True
1/4
Lesion of of Fibrous Dysplasia described as:
Margins:
Cortical:
Cortical rxn:
Ground Glass Opacity
Blend
Expansion
Absent
Chinese script writing bone pattern
Fibrous Dysplasia
“fibro-osseous lesion”
Tx Fibrous Dysplasia:
Stabilized with…
If small and localized:
If larger:
If disfiguring:
Bisphosphonates when:
________ Contraindiated
individualized
Maturity
Excise
recontour
resect
symptomatic polystotic
Radiation
Use Radiation with Fibrous Dysplasia
False
*contraindicated
Giant Cell Granuloma found more often in what sex?
at what age?
characteristic appearance in in Arch?
female
prior age 30
Anterior jaws, crosses midline
Giant Cell Granuloma can be aggressive or non-aggressive
*differing symptoms, growth, cortical expansion, root resorption
True
Giant Cell Granuloma radiograph:
Margins:
might have cortical perforation/root resporption
unilocular/multilocular radiolucency
noncorticated
True
Giant Cell Granuloma Tx:
Recurrence:
(higher w/ aggressive)
Alt Tx:
Surgical
15-20%
steroids, calcitonin, interferon
Intraosseous accumulation of variable sized, blood-filled spaced surrounded by Fibrous Tissue and Giant Cells
Aneurysmal bone cyst
Aneurysmal bone cyst most found mostly in what 2 bones?
___% in the jaws
More often at what age?
symptoms:
long bones, vertebrae
2%
children/young
rapid swelling/pain
Aneurysmal bone cyst radiograph:
Cortex:
Can aspirate blood from space
Tx is curretage/resection and variable recurrence
unilocular/multilocular RL
thin/perforated
True
True
Idiopathic Osteosclerosis increased in what 3 ethnicities:
gender:
90% found where?
80% contact tooth _____
Blacks, Chinese, Japs
no preference
Mn1M
Root
Idiopathic Osteosclerosis is very painful
False
*no pain, expansion
Idiopathic Osteosclerosis is easily confused w/ what?
Except that…
Condensing Osteitis
Tooth vital
Well defined radiopacity, symmetric
No radiolucent halo but blends
80% contacts tooth root
Occasional root resorption
Idiopathic Osteosclerosis
Idiopathic Osteosclerosis study: ___% stable
% smaller
% larger
86%
10%
4%
Focal Ostoporotic Bone Marrow Defect: an asymptomatic ________ lesion w/ internal trabeculation
commonly found in what demographic?
Orally, Often found at site of previous ______
70% found where?
After Dx by incisional biopsy, no Tx
radiolucent
middle aged females
extraction
Posterior Mn
True
Bone inflammation (strictly)
Osteomyeliltis
6 types of clinically distinguishable Osteomyelitis
Acute
Chronic
Focal sclerosing (Condensing Osteitis)
Diffuse sclerosing
w/ proliferative periostitis (Garre’s)
Alveolar (Dry socket)
Acute Osteomyelitis duration:
3 systemic symptoms:
_____ drainage may be seen
May cause nerve _______
short, less than 1 month
fever, lymph swelling, elevated WBC
Purulent
parasthesia
Acute Osteomyelitis, as infection progresses, radiographically seen as…
primary Tx:
secondary Tx if does not occur spontaneously:
asymmetric radiolucency
Abx!!!
Surgical drainage
Long duration, variable pain, not consistently sharp pain
Tooth loss in area of involvement
Chronic Osteomyelitis
Chronic Osteomyelitis, Radiographic features:
Tx:
Ill-defined, assymetric, radiopacity
Debride, Abx (long duration/IV)
Generally considered rxn of periapical bone to low grade odontogenic infection:
This inflammation (if immune competent) can result in what?
Tooth vital?
Chronic Focal Sclerosing Osteomyelitis (Condensing Osteitis)
Sclerosing
Non-vital
Chronic Focal Sclerosing Osteomyelitis (Condensing Osteitis): radiographically it is irregular _______, asymmetric and often ______ with surrounding bone
Tx:
85% of the area (after odontogenic infection addressed) does what?
opacity, blends
RCT/extract
remodels
Controversial bony condition often confused w/ other pathologic conditions, particularly cemto-osseous dysplasia which frequently becomes secondarily infected
Chronic Diffuse Sclerosing Osteomyelitis
Chronic Diffuse Sclerosing Osteomyelitis is considered a rxn to low grade _______, often following _______
odontogenic infection
trauma/surgery
Chronic Diffuse Sclerosing Osteomyelitis is like focal but affects large area of bone in one quadrant
Characteristically affects where?
Diffuse radiopacity of varying _______
Tx:
Abx not effective why?
True
Posterior Mn
density
eliminate infection, monitor
hypovascularized sclerotic bone
Chronic Osteomyelitis w/ Proliferative Periostitis, aka…
______ grade osteomyelitis
Immune status?
Age?
Inflammation involves what?
Garre’s Osteomyelitis
low
competent
young
periosteum
Chronic Osteomyelitis w/ Proliferative Periostitis occurs near cortical surface and there is presence of what?
Periosteal inflammation stimulates what?
What arch most affected?
Clinically presents as…
Draining sinus tract
bone production
Mn
bony hard swelling
Chronic Osteomyelitis w/ Proliferative Periostitis: lays down ______ bone (inflammatory rxn)
Thin cortical layering produces what pattern?
Layered bone is weakly ______ (less dense than cortical)
Often requires ______ films to visualize
immature
onion skin
opaque
occlusal
Chronic Osteomyelitis w/ Proliferative Periostitis Tx:
Abx work?
Remodeling occurs over time so _____ not necessary
RCT/Extract
don’t alter process
Surgical recontouring
Dry Socket:
Alveolar Osteitis
Alveolar Osteitis (Dry Socket) is a post extraction complication usually found in what tooth?
Increases chance for infection, more common in ______, associated with ______ pills
Caused by a breakdown of the ______ in the socket
Occurs _____ days following extraction
Produces pain/odor, Tx by packing socket w/ protective…
Mn 3M
Females, birth control
clot
3-4 days
dressing
BRONJ (MRONJ, etc) cause is drugs like Denosumab inhibiting the action of what cell?
Half life is 12 yrs or greater
Also affects angiogenesis/osteoblasts
Osteoclasts
True
True
Drug to Tx malignancy, hypercalcemia, multiple myeloma, metastatic disease (breast/prostate), Paget’s
Bisphosphonates
BRONJ occurs ____% in pts cancer/IV Tx:
__% cases in pts w/ myeloma/metastatic breast cancer
__% cases in pts on Oral Tx
6-10%
85%
4%
The presence of Nitrogen and IV delivery increases chance of BRONJ
True