Gen Path Exam 4 - Oral manifestations of systemic diseases Flashcards

1
Q

What conditions have we already discussed that have oral manifestations? (good review for final - anything with oral manifestation we should be reviewing thoroughly!)

A

Gardner syndrome
Crohn’s disease (cobblestone mucosa)
Granulomatosis w/ polyangiitis (strawberry gingivitis)
Gaucher disease (multiple radiolucencies in mandible)
Mucopolysaccharidosis (multiple impacted teeth, large follicles)
Addison’s disease (new pigmented lesions)
IBD (snail track lesions)
Neutropenia (punched out ulcers)

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2
Q

Which category of disease?

Hyperparathyroidism

A

Metabolic

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3
Q

Which category of disease?

Vitamin C or D deficiency

A

Metabolic

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4
Q

Which category of disease?

Hypophosphatasia

A

Metabolic

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5
Q

Which category of disease?

Hereditary hypophosphatemia

A

Developmental

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6
Q

Which category of disease?

Neurofibromatosis Type 1

A

Developmental

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7
Q

Which category of disease?

Multiple endocrine neoplasia type 2B

A

Developmental

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8
Q

Which disease?

Caused by increased parathyroid hormone production

A

Hyperparathyroidism

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9
Q

Which type of hyperparathyroidism?

Caused by parathyroid adenoma

A

Primary hyperparathyroidism

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10
Q

Which type of hyperparathyroidism?

Caused by chronic renal disease

A

Secondary hyperparathyroidism

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11
Q

Which disease?

Affects people > 60 yrs old

A

Hyperparathyroidism

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12
Q

Which disease has the following symptoms?

Stones (kidney, gallbladder)
Bones (pain)
Groans (constipation, muscle weakness)
Thrones (polyuria)
Psychiatric overtones (depression, confusion)

A

Hyperparathyroidism

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13
Q

Which disease has the following clinical presentation?

Brown tumor

A

Hyperparathyroidism

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14
Q

In hyperparathyroidism, what does a brown tumor look like on an X-Ray?

A

Well-demarcated unilocular or multilocular radiolucencies

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15
Q

In hyperparathyroidism, where does a brown tumor show up?

A

Any bone, including mandible

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16
Q

Which clinical presentation of hyperparathyroidism?

Histologically identical to an oral path lesion called central giant cell granuloma

A

Brown tumor

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17
Q

Which disease?

Diagnosed by increased serum parathyroid hormone

A

Hyperparathyroidism

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18
Q

Which disease?

Tx is to treat underlying cause

A

Hyperparathyroidism

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19
Q

Which disease?

Caused by inadequate intake of vitamin C

A

Vitamin C deficiency

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20
Q

Which disease?

Caused by diet limited in fresh fruits/vegetables

A

Vitamin C deficiency

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21
Q

Which disease?

Leads to inadequate collagen synthesis

A

Vitamin C deficiency

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22
Q

Which disease?

Affects individuals w/ avoidant/restrictive food intake disorder

A

Vitamin C deficiency

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23
Q

Which disease?

Affects older individuals w/ limited diet; edentulism may contribute

A

Vitamin C deficiency

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24
Q

Which disease has the following clinical presentation?

Petechial hemorrhage and ecchymosis; weakened vascular walls

A

Vitamin C deficiency

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25
Q

Which disease has the following clinical presentation?

Generalized gingival swelling w/ hemorrhage

A

Vitamin C deficiency

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26
Q

Which disease has the following clinical presentation?

Joint pain

A

Vitamin C deficiency

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27
Q

Which disease?

Diagnosed by vitamin C blood test

A

Vitamin C deficiency

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28
Q

Which disease?

Tx is vitamin C supplements and dietary counseling

A

Vitamin C deficiency

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29
Q

What is a vitamin D deficiency called in infants?

A

Rickets

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30
Q

What is a vitamin D deficiency called in adults?

A

Osteomalacia

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31
Q

Which disease?

Caused by deficiency in vitamin D due to diet or lack of sunlight

A

Vitamin D deficiency

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32
Q

Which disease?

Affects malnourished children and adults

A

Vitamin D deficiency

33
Q

Which disease has the following clinical presentation?

Irritability and growth impairment

A

Rickets

34
Q

Which disease has the following clinical presentation?

Prominent costochondral junctions (rachtic rosary)

A

Rickets

35
Q

Which disease has the following clinical presentation?

Bowing of legs

A

Rickets

36
Q

Which disease has the following clinical presentation?

Hypomineralization of teeth

A

Rickets

37
Q

Which disease has the following clinical presentation?

Susceptible to bone fracture

A

Osteomalacia

38
Q

Which disease has the following clinical presentation?

Diffuse skeletal pain

A

Osteomalacia

39
Q

Which disease?

Diagnosed by Vitamin D blood test

A

Vitamin D deficiency

40
Q

Which disease?

Tx is Vitamin D supplements and dietary counseling

A

Vitamin D deficiency

41
Q

Which disease?

Another name is “Vitamin D-resistant Rickets”

A

Hereditary hypophosphatemia

42
Q

Which disease?

X-linked dominant inheritance

A

Hereditary hypophosphatemia

43
Q

Which disease?

Caused by mutations in PHEX gene, which plays a role in vitamin D metabolism

A

Hereditary hypophosphatemia

44
Q

Which disease?

Affects males more severely

A

Hereditary hypophosphatemia

45
Q

Which disease?

Lower limbs shortened and bowed

A

Hereditary hypophosphatemia

46
Q

Which disease?

Enlarged pulp chambers

A

Hereditary hypophosphatemia

47
Q

Which disease?

Pulp horns extend to DEJ; pulp exposure/necrosis may occur on healthy teeth

A

Hereditary hypophosphatemia

48
Q

Which disease?

Multiple abscesses involving primary dentition

A

Hereditary hypophosphatemia

49
Q

Which disease?

Diagnosed by low serum phosphate levels, genetic test, family history

A

Hereditary hypophosphatemia

50
Q

Which disease?

Tx is phosphate supplements and Burosumab (monoclonal AB that reduces phosphate wasting)

A

Hereditary hypophosphatemia

51
Q

Which disease?

Caused by deficiency of alkaline phosphatase

A

Hypophosphatasia

52
Q

Which disease?

Many different mutations are responsible

A

Hypophosphatasia

53
Q

Which disease?

Symptoms can present in infancy

A

Hypophosphatasia

54
Q

Which disease?

The earlier the symptoms present, the more severe the presentation

A

Hypophosphatasia

55
Q

Which disease?

Short stature, bowed legs, fractures

(similar to rickets)

A

Hypophosphatasia

56
Q

Which disease?

Wide pulp canals

A

Hypophosphatasia

57
Q

Which disease?

Premature loss of teeth due to lack of cementum

A

Hypophosphatasia

58
Q

Which teeth are lost first in Hypophosphatasia?

A

Mandibular incisors

59
Q

Which disease?

Diagnosed by low serum alkaline phosphatase

A

Hypophosphatasia

60
Q

Which disease?

Symptomatic treatment

A

Hypophosphatasia

61
Q

Which disease?

Caused by NF1 gene mutation

A

Neurofibromatosis Type 1 (NF1)

62
Q

Which disease?

Autosomal dominant inheritance

A

Neurofibromatosis Type 1
Multiple Endocrine Neoplasia Type 2B (MEN2B)

63
Q

Which disease?

Multiple neurofibromas of skin and mucosa; potential to become malignant peripheral nerve sheath tumor

A

Neurofibromatosis Type 1

64
Q

Which disease?

Cafe au lait macules (light brown skin pigmentation)

A

Neurofibromatosis Type 1

65
Q

Which disease?

Axillary and inguinal freckling

A

Neurofibromatosis Type 1

66
Q

Which disease?

Lisch nodules (pigmentary defects of iris)

A

Neurofibromatosis Type 1

67
Q

Which disease?

Diagnosed by biopsy and genetic test

A

Neurofibromatosis Type 1
Multiple Endocrine Neoplasia Type 2B (MEN2B)

68
Q

Which disease?

Tx is cosmetic excision and monitoring for signs of malignant peripheral nerve sheath tumor

A

Neurofibromatosis Type 1

69
Q

Which disease?

RET gene mutation

A

Multiple Endocrine Neoplasia Type 2B (MEN2B)

70
Q

Which disease?

Mucosal neuromas are often 1st sign

A

Multiple Endocrine Neoplasia Type 2B (MEN2B)

71
Q

Where are mucosal neuromas found in Multiple Endocrine Neoplasia Type 2B (MEN2B)?

A

Lips and anterior tongue

Also seen on buccal mucosa, gingiva, palate

72
Q

Which clinical presentation of Multiple Endocrine Neoplasia Type 2B (MEN2B)?

Small, painless papules or nodules

A

Mucosal neuromas

73
Q

Which disease?

Medullary thyroid carcinoma

A

Multiple Endocrine Neoplasia Type 2B (MEN2B)

74
Q

Which disease?

Pheochromocytoma (adrenal gland tumor)

A

Multiple Endocrine Neoplasia Type 2B (MEN2B)

75
Q

Which disease?

Tx is preventative thyroidectomy and watch for development of pheochromocytoma

A

Multiple Endocrine Neoplasia Type 2B (MEN2B)

76
Q

Which disease?

Caused by:
Obesity
Edentulism
Amyloidosis
Hypothyroidism
Down syndrome
NF1
MEN2B

A

Macroglossia

77
Q

Which disease?

May have crenated (scalloped) border from pressure against mandibular teeth

A

Macroglossia

78
Q

Which disease?

Complications are obstructive sleep apnea and airway obstruction

A

Macroglossia