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ORAL PATHOLOGY! > Exam 6-OsteoDystrophy-Genetic > Flashcards

Exam 6-OsteoDystrophy-Genetic Flashcards

1
Q

Don’t you love these BROAD questions?? What are the 6 GENETIC diseases that lead to OsteoDystrophy?

A
  1. Osteogenesis Imperfecta 2.OsteoPETrosis 3.CleidoCranial Dysplasia 4.Cherubism 5.Hypophosphatasia 6.Vit D-resistant RICKETS
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2
Q

Don’t you love these BROAD questions?? What are the 4 METABOLIC diseases that lead to OsteoDystrophy?

A
  1. rickets 2.osteomalacia 3.hyperparathyroidism 4.renal osteodystrophy
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3
Q

Don’t you love these BROAD questions?? What are the 6 osteodystophic diseases WITH UNKNOWN or OTHER causes (than genetic or metabolic)??

A

1.Paget’s disease of bone 2.Fibrous dysplasia 3.aneurysmal bone cyst 4.idiopathic osteosclerosis 5.focal osteoporotic bone marrow defect 6.bisphosphonate- associated osteonecrosis of jaw

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4
Q

What is the most common inherited bone disease?

A

Osteogenesis Imperfecta

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5
Q

What is affected by the mutation in Osteogenesis Imperfecta?

A

Collagen Type I

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6
Q

Which genetic disease will your patient have an extensive Med Hx of bone fractures?

A

Osteogenesis Imperfecta

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7
Q

What is the TRADEMARK sign of Osteogenesis Imperfecta in the eye?

A

Blue Sclera

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8
Q

What is the variant of Osteogenesis Imperfecta that shows OPALESCENT teeth?

A

DentinoGenesis Imperfecta

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9
Q

(Aside, because you suck so much at this) What happens to the pulp in dentinogenesis imperfecta?

A

NO PULPS! They are OBLITERATED (I think I put enlarged pulps on a previous test)

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10
Q

Osteogenesis Imperfecta Types I-IV have what kind of genetic inheritance? What about their severity?

A

EITHER autosomal DOMINANT OR RECESSIVE..severity varies

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11
Q

What is the other form of dysplasia associated with Osteogenesis Imperfecta in RARE cases?

A

FLORID cemento-osseua dysplasia

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12
Q

In osteogenesis Imperfecta abnormal ______ results in bones with a thin _____ and osteoporosis which are soft and prone to fracture

A

collagen…CORTEX

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13
Q

In osteogenesis imperfecta, bones characterized by ______, angulation and deformity

A

BOWING

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14
Q

What are the two main treatement types for Osteogenesis Imperfecta?

A

1.Pysiotherapy, orthopedic surgery 2. BISPHOSPHONATES!!

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15
Q

What is the offical name of “Marble Bone disease”?

A

Osteo-PET-rosis (why does this remind me of David Patraeus?)

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16
Q

OsteoPETrosis is a defect in ______ funciton

A

osteoclast

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17
Q

OsteoPETrosis-the NITTY GRITTY: Mutations in the ___ subunit of the osteoclast vacuolar pump (50-60% of the time), if its the CLCN7: _______ channel (10-15% of the time)….WHICH of these two is the more SEVERE form?

A

A3…cholride channel…the chloride channel is the more SEVERE form

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18
Q

What type of genetic inheritance is infantile osteoPETrosis?

A

Autosomal Recessive

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19
Q

In infantile osteoPETrosis: Severe, _______ skeleton, ______ failure [ANEMIA, hepatosplenomegaly, osteomyelitis result], facial deformity and neurological deficit [paralysis, blindness, deafness]

A

sclerotic skeleton…marrow

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20
Q

What type of genetic inheritance is ADULT osteoPETrosis?

A

Autosomal DOMINANT

21
Q

How severe is ADULT osteoPETrosis? What % is asymptomatic?

A

it is MILD….40% are asymptomatic

22
Q

Why does hepatoSplenomegaly result from infantile osteoPetrosis?

A

No bone marrow, the other blood cell making organs step their games up

23
Q

Dental Implications of OsteoPETrosis: Although bones are _______, they are more ______

A

DENSER….fragile

24
Q

Dental Implications of OsteoPETrosis: which part of the face/mouth are affected?

A

JAWS are affected by osteoPETrosis (easy card, I know)

25
Q

Dental Implications of OsteoPETrosis: Fracture and ________ after tooth extraction a problem

A

OSTEOMYELITIS

26
Q

Management of a OsteoPETrosis patient: if its a case of ________ osteoPETrosis, the patient will have a POOR prognosis :(

A

infantile

27
Q

Management of a OsteoPETrosis patient: An adult will have a ________ prognosis, some long term survival

A

variable

28
Q

Management of a OsteoPETrosis patient: what is the current treatment?

A

bone marrow transplant

29
Q

In cleido-cranial dysplasia, there is a defect in the differentiation of what two types of cells?

A

osteoblasts and chondrocytes

30
Q

What type of genetic inheritance is CleidoCranial Dystrophy? BUT WAIT, it could also just be a ______ mutation…

A

Autosomal DOMINANT or a somatic mutation

31
Q

CleidoCranial dystrophy can be described with: Short statue, frontal ______, ______ fontanels, late closure of cranial sutures, absence or hypoplasia of WHAT BONES?

A

bossing…patent…clavicals

32
Q

Along with these oral manifestations of CleidoCranial Dysplasia: Retention of deciduous teeth, delayed eruption of permanent teeth, ± narrow high arched palate…WHAT IS ONE MORE CLASSIC sign???

A

SUPERNUMERARY TEETH

33
Q

What is the prognosis for a patient with CleidoCranial Dysplasia?

A

Its GOOD, no tx nec.

34
Q

What type of Genetic inheritance is Cherubism? BUT WAIT, it could also be SPONTANEOUS ________

A

AUTOSOMAL DOMINANT…or spontaneous mutation

35
Q

In Cherubism the manifestations are bilateral post. mandibular painless _______, maxillary swelling push the orbital base upward, _______ eyes, rounded face

A

SWELLING…UPTURNED eyes

36
Q

Interesting note about the progression of Cherubism- it can start as young as 14 months, but the average age of its onset is ___ years old…THEN once ________ hits it can slowly REGRESS!

A

7 years old…pooberty

37
Q

THE VERY DISTINCT Radiographic manifestation of WHICH CONDITION??: Radiographic features: radiolucency, usually multilocular, bilateral of Post Md, often from Md notch on one side to contralateral side

A

Cherubism

38
Q

THE VERY DISTINCT Radiographic manifestation of Cherubism: Radiographic features: radiolucency, usually _____locular, bilateral of Post Md, often from ______ on one side to contralateral side

A

multiLocular…mandibular notch

39
Q

What is the HALLMARK histological feature of Cherubism? (What type of cells/structure)

A

Giant Cell granulomas

40
Q

What type of osteodystrophy occurs from mutations of non-specific alkaline phosphatase (liver-, bone-, or kidney-type)?

A

Hypo-Phosphat-ASIA

41
Q

What is the main way someone aquires HypoPhosphatAsia?

A

it is inherited, EITHER autosomal DOMINANT or recessive

42
Q

What is the dental manifestation of HypoPhosphatASIA?

A

premature LOSS of primary (OR permanent) teeth due to LACK OF CEMENTUM

43
Q

In HypoPhosphatASIA teeth fall out prematurely because of lack of WHAT tooth structure?

A

cementum

44
Q

What is the common name for Hereditary HypoPhosphaEmia?

A

Vitamin D-Resistant Rickets

45
Q

What type of genetic inheritance is Vitamin D-resistant rickets?

A

X-linked DOMINANT

46
Q

In Vitamin D-Resistant rickets there is a decreased reabsorption of ______ from renal tubules, decreased intestinal absorption of ______; hypophosphatemia

A

phosphate…calcium

47
Q

Which genetic osteodystrophy presents with LARGE pulp horns extending in to the DEJ?

A

Vitamin D-resistant Rickets (hereditary hypophosphatemia)

48
Q

in Vitamin D-resistant Rickets, the pulp does into the DE which opens the door for ______ in the dentin and possibly ________

A

clefts….periapical abscess

49
Q

Which part of a patient’s body is shortened in Vitamin D-resistant Rickets?

A

lower body

ORAL PATHOLOGY! (40 decks)

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