Gen Path Exam 4 - Oral manifestations of systemic diseases

Question 1

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

Answer 1

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)

Question 2

Which category of disease?

Hyperparathyroidism

Answer 2

Metabolic

Question 3

Which category of disease?

Vitamin C or D deficiency

Answer 3

Metabolic

Question 4

Which category of disease?

Hypophosphatasia

Answer 4

Metabolic

Question 5

Which category of disease?

Hereditary hypophosphatemia

Answer 5

Developmental

Question 6

Which category of disease?

Neurofibromatosis Type 1

Answer 6

Developmental

Question 7

Which category of disease?

Multiple endocrine neoplasia type 2B

Answer 7

Developmental

Question 8

Which disease?

Caused by increased parathyroid hormone production

Answer 8

Hyperparathyroidism

Question 9

Which type of hyperparathyroidism?

Caused by parathyroid adenoma

Answer 9

Primary hyperparathyroidism

Question 10

Which type of hyperparathyroidism?

Caused by chronic renal disease

Answer 10

Secondary hyperparathyroidism

Question 11

Which disease?

Affects people > 60 yrs old

Answer 11

Hyperparathyroidism

Question 12

Which disease has the following symptoms?

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

Answer 12

Hyperparathyroidism

Question 13

Which disease has the following clinical presentation?

Brown tumor

Answer 13

Hyperparathyroidism

Question 14

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

Answer 14

Well-demarcated unilocular or multilocular radiolucencies

Question 15

In hyperparathyroidism, where does a brown tumor show up?

Answer 15

Any bone, including mandible

Question 16

Which clinical presentation of hyperparathyroidism?

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

Answer 16

Brown tumor

Question 17

Which disease?

Diagnosed by increased serum parathyroid hormone

Answer 17

Hyperparathyroidism

Question 18

Which disease?

Tx is to treat underlying cause

Answer 18

Hyperparathyroidism

Question 19

Which disease?

Caused by inadequate intake of vitamin C

Answer 19

Vitamin C deficiency

Question 20

Which disease?

Caused by diet limited in fresh fruits/vegetables

Answer 20

Vitamin C deficiency

Question 21

Which disease?

Leads to inadequate collagen synthesis

Answer 21

Vitamin C deficiency

Question 22

Which disease?

Affects individuals w/ avoidant/restrictive food intake disorder

Answer 22

Vitamin C deficiency

Question 23

Which disease?

Affects older individuals w/ limited diet; edentulism may contribute

Answer 23

Vitamin C deficiency

Question 24

Which disease has the following clinical presentation?

Petechial hemorrhage and ecchymosis; weakened vascular walls

Answer 24

Vitamin C deficiency

Question 25

Which disease has the following clinical presentation? Generalized gingival swelling w/ hemorrhage

Answer 25

Vitamin C deficiency

Question 26

Which disease has the following clinical presentation? Joint pain

Answer 26

Vitamin C deficiency

Question 27

Which disease? Diagnosed by vitamin C blood test

Answer 27

Vitamin C deficiency

Question 28

Which disease? Tx is vitamin C supplements and dietary counseling

Answer 28

Vitamin C deficiency

Question 29

What is a vitamin D deficiency called in infants?

Answer 29

Rickets

Question 30

What is a vitamin D deficiency called in adults?

Answer 30

Osteomalacia

Question 31

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

Answer 31

Vitamin D deficiency

Question 32

Which disease? Affects malnourished children and adults

Answer 32

Vitamin D deficiency

Question 33

Which disease has the following clinical presentation? Irritability and growth impairment

Answer 33

Rickets

Question 34

Which disease has the following clinical presentation? Prominent costochondral junctions (rachtic rosary)

Answer 34

Rickets

Question 35

Which disease has the following clinical presentation? Bowing of legs

Answer 35

Rickets

Question 36

Which disease has the following clinical presentation? Hypomineralization of teeth

Answer 36

Rickets

Question 37

Which disease has the following clinical presentation? Susceptible to bone fracture

Answer 37

Osteomalacia

Question 38

Which disease has the following clinical presentation? Diffuse skeletal pain

Answer 38

Osteomalacia

Question 39

Which disease? Diagnosed by Vitamin D blood test

Answer 39

Vitamin D deficiency

Question 40

Which disease? Tx is Vitamin D supplements and dietary counseling

Answer 40

Vitamin D deficiency

Question 41

Which disease? Another name is "Vitamin D-resistant Rickets"

Answer 41

Hereditary hypophosphatemia

Question 42

Which disease? X-linked dominant inheritance

Answer 42

Hereditary hypophosphatemia

Question 43

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

Answer 43

Hereditary hypophosphatemia

Question 44

Which disease? Affects males more severely

Answer 44

Hereditary hypophosphatemia

Question 45

Which disease? Lower limbs shortened and bowed

Answer 45

Hereditary hypophosphatemia

Question 46

Which disease? Enlarged pulp chambers

Answer 46

Hereditary hypophosphatemia

Question 47

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

Answer 47

Hereditary hypophosphatemia

Question 48

Which disease? Multiple abscesses involving primary dentition

Answer 48

Hereditary hypophosphatemia

Question 49

Which disease? Diagnosed by low serum phosphate levels, genetic test, family history

Answer 49

Hereditary hypophosphatemia

Question 50

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

Answer 50

Hereditary hypophosphatemia

Question 51

Which disease? Caused by deficiency of alkaline phosphatase

Answer 51

Hypophosphatasia

Question 52

Which disease? Many different mutations are responsible

Answer 52

Hypophosphatasia

Question 53

Which disease? Symptoms can present in infancy

Answer 53

Hypophosphatasia

Question 54

Which disease? The earlier the symptoms present, the more severe the presentation

Answer 54

Hypophosphatasia

Question 55

Which disease? Short stature, bowed legs, fractures (similar to rickets)

Answer 55

Hypophosphatasia

Question 56

Which disease? Wide pulp canals

Answer 56

Hypophosphatasia

Question 57

Which disease? Premature loss of teeth due to lack of cementum

Answer 57

Hypophosphatasia

Question 58

Which teeth are lost first in Hypophosphatasia?

Answer 58

Mandibular incisors

Question 59

Which disease? Diagnosed by low serum alkaline phosphatase

Answer 59

Hypophosphatasia

Question 60

Which disease? Symptomatic treatment

Answer 60

Hypophosphatasia

Question 61

Which disease? Caused by NF1 gene mutation

Answer 61

Neurofibromatosis Type 1 (NF1)

Question 62

Which disease? Autosomal dominant inheritance

Answer 62

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

Question 63

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

Answer 63

Neurofibromatosis Type 1

Question 64

Which disease? Cafe au lait macules (light brown skin pigmentation)

Answer 64

Neurofibromatosis Type 1

Question 65

Which disease? Axillary and inguinal freckling

Answer 65

Neurofibromatosis Type 1

Question 66

Which disease? Lisch nodules (pigmentary defects of iris)

Answer 66

Neurofibromatosis Type 1

Question 67

Which disease? Diagnosed by biopsy and genetic test

Answer 67

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

Question 68

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

Answer 68

Neurofibromatosis Type 1

Question 69

Which disease? RET gene mutation

Answer 69

Multiple Endocrine Neoplasia Type 2B (MEN2B)

Question 70

Which disease? Mucosal neuromas are often 1st sign

Answer 70

Multiple Endocrine Neoplasia Type 2B (MEN2B)

Question 71

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

Answer 71

Lips and anterior tongue Also seen on buccal mucosa, gingiva, palate

Question 72

Which clinical presentation of Multiple Endocrine Neoplasia Type 2B (MEN2B)? Small, painless papules or nodules

Answer 72

Mucosal neuromas

Question 73

Which disease? Medullary thyroid carcinoma

Answer 73

Multiple Endocrine Neoplasia Type 2B (MEN2B)

Question 74

Which disease? Pheochromocytoma (adrenal gland tumor)

Answer 74

Multiple Endocrine Neoplasia Type 2B (MEN2B)

Question 75

Which disease? Tx is preventative thyroidectomy and watch for development of pheochromocytoma

Answer 75

Multiple Endocrine Neoplasia Type 2B (MEN2B)

Question 76

Which disease? Caused by: Obesity Edentulism Amyloidosis Hypothyroidism Down syndrome NF1 MEN2B

Answer 76

Macroglossia

Question 77

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

Answer 77

Macroglossia

Question 78

Which disease? Complications are obstructive sleep apnea and airway obstruction

Answer 78

Macroglossia