Periodontitis as a Manifestation of Systemic Disease

Question 1

Periodontitis can affect the ______

Likewise systemic conditions & disease can affect the _____

Answer 1

rest of body

peridontium

Question 2

Periodontal diseases & systemic disorders have three common contributing factors including:

Answer 2

1. environmental factors
2. host factors
3. microbial factors

Question 3

What do we mean by:

“Periodontitis as a manifestation of a systemic disease”

Answer 3

Meaning systemic disease is altering the course of periodontitis

Question 4

How do systemic disorders result in a loss of periodontal tissues?

Answer 4

1. influence periodontal inflammation
2. influence the pathogenesis of periodontal diseases

Question 5

Major impact of systemic diseases on periodontal health:

Answer 5

severe/early-onset periodontitis

Question 6

Moderate impact of systemic diseases on periodontal health:

Answer 6

1. increase prevalence
2. no otherwise different clinical presentations of chronic periodontitis

Question 7

Systemic disorders that have a major impact on the loss of periodontal tissue by influencing periodontal inflammation:

Answer 7

1. Genetic disorders
2. Acquired immunodeficiency diseases
3. Inflammatory diseases

Question 8

List the categories of genetic disorders (that affect the periodontium):

Answer 8

1. diseases associated with immunologic disorders
2. diseases affecting the oral mucosa & gingival tissue
3. diseases affecting the connective tissues
4. metabolic & endocrine disorders

Question 9

Diseases associated with immunologic disorders (that affect the periodontium):

Answer 9

1. down syndrome
2. leukocyte adhesion deficiency
3. papillon lefevre syndrome
4. chediak higashi syndrome
5. congenital neutropenia

Question 10

Down syndrome may also be called:

Answer 10

Trisomy 21 or mongolism

Question 11

Down syndrome is characterized by:

Answer 11

1. characteristic physical appearance
2. mental deficiency
3. growth retardation

Question 12

List some physical characteristics associated with Down syndrome:

Answer 12

1. small nose, mouth & ears
2. slightly bent 5th finger (pinky)
3. short, stocky build
4. almond-shaped eyes with skin fold covering inner corner
5. white spots on colored part of eyes
6. flat, round face

Question 13

What chromosome is affected in Down syndrome?

Answer 13

21st

Question 14

Describe periodontitis in an individual with Down syndrome:

Answer 14

moderate to severe periodontitis with rapid progression

Question 15

Describe the progression of periodontist in an individual with down syndrome:

Answer 15

rapid progression

Question 16

T/F: in an individual with down syndrome, local factors alone explain the severity of periodontal destruction

Answer 16

False- local factors alone FAIL TO EXPLAIN the severity of periodontal destruction

Question 17

Describe the affects of down syndrome on the immune system:

List some examples: (3)

Answer 17

Intrinsic immune system defects

1. poor PMN chemotaxis
2. poor phagocytosis
3. poor intracellular killing

Question 18

Caused by a mutation in beta-2 integrin (ITGB2) gene:

Answer 18

Leukocyte adhesion deficiency

Question 19

What gene is affected in leukocyte adhesion deficiency?

Answer 19

Beta-2 integrin (ITGB2)

Question 20

In LAD, there is a mutation in Beta-2 integrin (ITFB2), describe what this mutation causes: (2)

Answer 20

1. lack of beta-2 integrin mRNA in leukocytes
2. low integrin (CD18 or CD15) expression in neutrophils

Question 21

What happens to the neutrophils in LAD? What does this result in?

Answer 21

Neutrophils are confined to blood vessels resulting in disruption of neutrophil-associated homeostasis

Question 22

In individuals affected by this disease we often see a history of severe recurrent infection with no pus; leukocytosis is common:

Answer 22

LAD

Question 23

In individuals with LAD, we often see a history of _____. ______ is common.

Answer 23

Severe recurrent infection but no pus; leukocytosis

Question 24

Describe the oral manifestations of LAD:

Answer 24

1. Severe gingival inflammation
2. aute gingival lesions
3. early on-set & rapidly progressive alveolar bone loss
4. early loss of the primary & permanent teeth

Question 25

This image shows oral findings in a 6-year old bow with _____. Note diastema, gingival retraction, and partial root exposure with cervical erosions affecting primary dentition. Permanent lower incisors are erupting.

Answer 25

LAD1

Question 26

Caused by a mutation in the cathepsin C gene (CTSC):

Answer 26

Papillon-Lefévre Syndrome

Question 27

What gene is mutated in Papillon-Lefévre Syndrome? What chromosome is this located on?

Answer 27

Cathepsin C gene (CTSC); Chromosome 11q14

Question 28

In Papillon-Lefévre Syndrome, these patients expérience compromised _____ function, resulting in ____.

Answer 28

neutrophil; decreased phagocytosis

Question 29

What characteristic lesion is seen in Papillon-Lefévre Syndrome? What are some common locations for this lesion?

Answer 29

Hyperkeratotic lesions -palms -soles of the feet -elbows -knees

Question 30

The following images are characteristic of:

Answer 30

Papillon-Lefévre Syndrome

Question 31

Describe the oral manifestations of Papillon-Lefévre Syndrome: (3)

Answer 31

1. severe gingival inflammation 2. early-onset and rapidly progressive alveolar bone loss 3. early loss of the primary & permanent teeth

Question 32

Case Study: A 10yo male child presented with what appeared to be severe generalized aggressive periodontitis. His parents presented no contributory medical history except for skin lesions that had been managed by his medical doctor since birth, CC: Parents complaining of child's bad breath & loose teeth History of main complaint: 1 year. Previously attended a private dentist who had done cleanings & prescribed antibiotics Medical history: NKDA, med history unknown -eczema on hands and feet from an early age, been treated by general practitioner with aqueous cream since early childhood Family history: NC Dental history & habits: Patient brushes 1x per day, no other dental aids used (Initial presentation seen in image)

Answer 32

Diagnosis: Papillon-Lefévre Syndrome

Question 33

Disease caused by mutations in CHS1 LYST gene:

Answer 33

Chediak-Highashi Syndrome

Question 34

Chediak-Higashi Syndrome is caused by a mutations in:

Answer 34

CHS1 LYST gene

Question 35

The mutation in Chediak-Higashi Syndrome (CHS1 LYST gene) results in what lysosomal defect?

Answer 35

Lysosomal trafficking defect

Question 36

In Chediak-Higashi Syndrome, defects in melanin granules results in:

Answer 36

partial oculocutaneous albinims

Question 37

What results in the partial oculocutaneous albinisim in Chediak-Higashi Syndrome?

Answer 37

Defects in melanin granules

Question 38

In Chediak-Higashi Syndrome the circulating leukocytes exhibit defective lysosomes causing a decrease in phagocytosis. Clinically, what does this cause?

Answer 38

Recurrent pyogenic infections

Question 39

In Chediak-Higashi Syndrome, we clinically see recurrent pyogenic infections. What is this caused by?

Answer 39

Circulating leukocytes exhibit defective lysosomes resulting in a decrease in phagocytosis

Question 40

Chediak-Higashi Syndrome is associated with varying neurologic problems including:

Answer 40

1. intellectual deficit 2. dementia

Question 41

Describe the oral manifestations of Chediak-Higashi Syndrome:

Answer 41

1. severe gingival inflammation 2. early-onset & rapidly progressive alveolar bone loss 3. early loss of the primary & permanent teeth 4. poor response to dental treatment

Question 42

Caused by mutations in the ELANE (50%) & HAX1 (10%) gene:

Answer 42

Congenital neutropenia

Question 43

Congenital neutropenia is caused by a mutation in the _____ gene 50% of the time and the _____ gene 10% of the time

Answer 43

ELANE; HAX1

Question 44

In Congenital neutropenia _____ of the causes remain unknown

Answer 44

1/3

Question 45

Congenital neutropenia results in a ____ number of ____

Answer 45

decrease; neutrophils

Question 46

What neutrophil value is considered "neutropenic"?

Answer 46

ANC <500 cell/uL and static

Question 47

The decreased number of neutrophils in congenital neutropenia results in: (2)

Answer 47

1. deficiency in the immune response 2. severe & recurrent infections

Question 48

Describe the oral manifestations of congenital neutropenia:

Answer 48

1. severe periodontitis is common 2. higher risk for tooth loss 3. oral ulcers

Question 49

Epidermolysis bullosa (Kindler syndrome) is a disease affecting the _____ & ____

Answer 49

oral mucosa & gingival tissue

Question 50

Epidermolysis bullosa (Kindler syndrome) is caused by a mutation in the:

Answer 50

Fermitin family homologue 1 gene

Question 51

Disease caused by a mutation in the Fermitin family homologue 1 gene:

Answer 51

Epidermolysis bullosa (Kindler syndrome)

Question 52

Epidermolysis bullosa (Kindler syndrome) is caused by a mutation in the ferritin family homologue 1 gene that causes: 1. A lack of ______ 2. Affects _______ 3. Can lead to molecular defects in the ______

Answer 52

1. integrin activation 2. keratinocyte adhesion 3. basement membrane zone

Question 53

Epidermolysis bullosa (Kindler syndrome) is caused by a mutation in the ferritin family homologue 1 gene that causes: 1. A lack of integrin activation 2. Affects keratinocyte adhesion 3. Can lead to molecular defects in the basement membrane zone All of these contribute clinically to:

Answer 53

1. photosensitivity 2. recurrent blister formation

Question 54

The following images show symptoms characteristic of:

Answer 54

Epidermolysis bullosa (Kindler syndrome)

Question 55

Ehlers-Danlos syndrome is categorized as a disease affecting the:

Answer 55

connective tissue

Question 56

Caused by mutations in genes coding fibrillar collagens or enzymes involved in the biosynthesis of these proteins:

Answer 56

Ehlers-Danlos syndrome

Question 57

The mutations in genes coding fibrillar collagens or enzymes involved in the biosynthesis of these proteins in Ehlers-Danlos syndrome affects:

Answer 57

collagen production & compositions

Question 58

In Ehlers-Danlos syndrome the collagen production and compositions are affected mainly in:

Answer 58

1. joints 2. skin 3. walls of blood vessels

Question 59

What is clinically seen in Ehlers-Danlos syndrome? (3)

Answer 59

1. joint hypermobility 2. skin extensibility 3. tissue fragility

Question 60

The following images are characteristic of:

Answer 60

Ehlers-Danlos syndrome

Question 61

What is the MAIN oral manifestation seen in Ehlers-Danlos syndrome? What are some others seen?

Answer 61

1. GENERALIZED LACK OF ATTACHED GINGIVA 2. generalized, early-onset severe periodontitis 3. gingival recession 4. early loss of primary & permanent teeth

Question 62

Hypophosphatasia is categorized as a:

Answer 62

metabolic and endocrine disorder

Question 63

Caused by a mutation in the gene alkaline phosphatase (ALPL):

Answer 63

Hypophosphatasia

Question 64

Hypophosphatasia is caused by a mutation in:

Answer 64

Alkaline phosphatase (ALPL) gene

Question 65

There are both _____ & ____ forms of hypophosphatasia

Answer 65

mild & severe

Question 66

Describe the oral manifestations of hypophosphatasia: (3)

Answer 66

1. defective cementum 2. alveolar bone loss 3. premature loss of teeth 4. impaired bone/tooth mineralization 5. compromised periodontal attachment

Question 67

In hypophosphatasia, patients have a compromised _____, resulting in reduction of the alveolar bone height

Answer 67

compromised periodontal attachment

Question 68

In hypophosphatasia, the teeth are not adequately:

Answer 68

anchored to the alveolar bone via the PDL

Question 69

Oral signs of HPP (common dental signs): (6)

Answer 69

1. exfoliation of the primary dentition before the age of three 2. exfoliation of the primary teeth with roots intact 3. alveolar bone loss 4. loss of permanent teeth with no signs of periodontal inflammation 5. enlarged pulp chambers and root canals 6. thin dentinal walls

Question 70

Disorder of glucose metabolism:

Answer 70

diabetes mellitus

Question 71

AGEs:

Answer 71

advanced glycylation end products -where there is excess amount of glucose in the circulation, everything gets glycated (once glycated its no longer a simple molecule)