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Pathology II > Skin & Mucosal Disease- Part 1 > Flashcards

Skin & Mucosal Disease- Part 1 Flashcards

1
Q

Two or more ectoderm ally derived structures fail to develop:

A

Ectodermal dysplasia

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2
Q

Give examples of some ectodermally derived structures that may fail to develop in ectodermal dysplasia:

A
  1. hair
  2. skin
  3. nails
  4. teeth
  5. sweat glands
  6. salivary glands
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3
Q

Describe the modes of inheritance seen in ectodermal dysplasia:

A
  1. autosomal dominant
  2. autosomal recessive
  3. X-linked
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4
Q

List the clinical features of hypohidrotic ectodermal dysplasia:

A
  1. male predominance
  2. reduced number of sweat glands
  3. sparse hair, reduced eyebrows & eyelashes
  4. salivary glands may be hypoplastic or absent
  5. hypodontia
  6. abnormally shaped teeth
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5
Q

What is the treatment for hypohidrotic ectodermal dysplasia?

A
  1. genetic counseling
  2. prosthetic appliances
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6
Q

What is a consequence of the reduced number of sweat glands seen in individuals with ectodermal dysplasia?

A

Cannot regulate heat

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7
Q

What are some oral manifestations of ectodermal dysplasia?

A
  1. hypodontia
  2. abnormal teeth shape
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8
Q

The individual in the following image likely has:

A

Ectodermal dysplasia

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9
Q

The individual in the following image likely has:

A

Ectodermal dysplasia

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10
Q

Defect in the normal keratinization of oral mucosa:

A

White sponge nevus

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11
Q

Describe the inheritance of white sponge nevus?

A

Autosomal dominant

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12
Q

White sponge nevus is a result of a defect in:

A

Normal keratinization of oral mucosa

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13
Q

What specific types of keratin are mutated in white sponge nevus?

A

Keratin 4 & keratin 13

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14
Q

List the clinical feature of white sponge nevus:

A
  1. appears at birth/early childhood
  2. symmetrical thickened plaques
  3. white appearance
  4. corrugated appearance
  5. MC buccal mucosa B/L
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15
Q

White sponge nevus most commonly occurs on the _____. However other locations include:

A

buccal mucosa (B/L)

  1. ventral tongue
  2. labial mucosa
  3. soft palate
  4. alveolar mucosa
  5. floor of mouth
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16
Q

What treatment is indicated for white sponge nevus?

A

None

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17
Q

Diagnose the following image:

A

white sponge nevus

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18
Q

Diagnose the following image:

A

white sponge nevus

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19
Q

Diagnose the following image:

A

white sponge nevus

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20
Q

Diagnose the following image based on the histological appearance:

A

white sponge nevus

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21
Q

Diagnose the following image based on the histological appearance:

A

white sponge nevus

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22
Q

Connective tissue disorder characterized by abnormal collagen production:

A

Ehlers-danlos syndrome

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23
Q

What genes are involved in Ehlers-danlos syndrome:

A

Many

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24
Q

List the clinical features of Ehlers-danlos syndrome:

A
  1. hyperplasticity of the skin (cutaneous fragility)
  2. hypermobility of joints (remarkable flexibility)
  3. bruise easily
  4. gorlin sign
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25
Q

Describe the gorlin sign; what disease does this present with?

A

-touch tip of nose with tongue; Ehlers-danlos syndrome

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26
Q

What type Ehlers-danlos syndrome is rare & has associated periodontal disease?

A

Type 8

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27
Q

Discuss the indicated treatment for Ehlers-Danlos syndrome:

A

depends on sub-type; mild-type is compatible with normal life span

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28
Q

Diagnose the following image:

A

Ehlers-danlos syndrome

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29
Q

Diagnose the following image:

A

Ehlers-danlos syndrome

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30
Q

Diagnose the following image:

A

Ehlers-danlos syndrome

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31
Q

Describe the inheritance pattern of Peutz-Jeghers syndrome:

A

Autosomal Dominant inheritance

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32
Q

What mutations are present in Peutz-Jeghers syndrome?

A

Mutation in tumor suppressor gene STK11

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33
Q

List the clinical features of Peutz-Jeghers syndrome:

A
  1. pigmented lesions on periorificial areas & extremities
  2. intestinal polyps
  3. increased frequencies of other malignancies
  4. intraoral lesions
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34
Q

In Peutz-Jeghers syndrome, periorificials areas are susceptible to pigmented lesions. List where these may appear:

A
  1. mouth
  2. nose
  3. anus
  4. genital region
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35
Q

What is a risk associated with the intestinal polyps seen in Peutz-Jeghers syndrome?

A

May develop into adenocarcinoma

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36
Q

Intraoral lesions seen in Peutz-Jeghers syndrome may be seen on:

A
  1. buccal mucosa
  2. labial mucosa
  3. tongue
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37
Q

Describe the treatment indicated Peutz-Jegher syndrome:

A

Patients should be monitored for tumor development

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38
Q

Diagnose the following image:

A

Peutz-Jeghers syndrome

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39
Q

Diagnose the following image:

A

Peutz-Jeghers syndrome

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40
Q

Diagnose the following image:

A

Peutz-Jeghers syndrome

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41
Q

A mucocutaneous disease caused by a genetic mutation resulting in a defect in the attachment mechanism of epithelial cells:

A

Epidermolysis bullosa

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42
Q

Epidermolysis bullosa is a genetic mutation resulting in:

A

defect in the attachment mechanisms of epithelial cells

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43
Q

List the clinical feature of epidermolysis bullosa:

A
  1. vesicles and bullae develop from low-grade trauma
  2. erosions & ulcerations that cause scarring
  3. gingival erythema
  4. gingival recession
  5. loss of vestibule depth
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44
Q

Describe the forms of epidermoylsis bullosa:

A

multiple forms ranging from mild to severe

45
Q

What treatment is indicated in cases of epidermolysis bullosa?

A
  1. wound care
  2. antibiotics
  3. surgery
46
Q

What may be recommended to patients epidermolysis bullosa?

A

noncariogenic diet (soft foods) & atraumatic oral hygiene procedures

47
Q

What causes the blister formation seen in epidermolysis bullosa?

A

Separation of epidermis & dermis

48
Q

What collagen may be affected in epidermolysis bullosa?

A

Collagen 7

49
Q

Diagnose the following histological image:

A

Epidermolysis bullosa

50
Q

Diagnose the following image:

A

Epidermolysis bullosa

51
Q

Diagnose the following image:

A

Epidermolysis bullosa

52
Q

Diagnose the following image:

A

Epidermolysis bullosa

53
Q

Diagnose the following image:

A

Epidermolysis bullosa

54
Q

Combination of chronic ocular inflammation, oro-genital ulcerations & systemic vasculitis:

A

Behçet Syndrome

55
Q

What is the cause of Behçet Syndrome?

A

Abnormal immune process triggered by an infectious or environmental antigen

56
Q

With Behçet Syndrome, there is a genetic predisposition involving:

57
Q

List the clinical features of Behçet Syndrome:

A
  1. 30s & 40s
  2. male predominance
  3. oral ulcerations (similar to aphthous ulcers but surrounded by large area of erythema)
  4. genital lesion (irregular ulcerations)
  5. vascular disease
  6. cutaneous lesions
  7. ocular involvement
  8. CNS involvement
58
Q

Describe the vascular disease seen in individuals with Behçet Syndrome:

A

Veins affected more frequently; inflammation & thrombi

59
Q

Describe the cutaneous lesions seen in Behçet Syndrome:

A

Erythematous papules, vesicles and pustules

60
Q

Describe the ocular involvement seen in Behçet Syndrome:

A

-uveitis
-conjunctivitis
-corneal ulceration
-arteritis
-blindness in 25% of patients

61
Q

Describe the CNS involvement seen in Behçet Syndrome:

A

paralysis & dimentia

62
Q

Describe the treatment indicated in Behçet Syndrome:

A

May require systemic meds such as corticosteroids & immunosuppressants

63
Q

Diagnose the following image:

A

Behçet Syndrome:

64
Q

Diagnose the following image:

A

Behçet Syndrome:

65
Q

Diagnose the following image:

A

Behçet Syndrome:

66
Q

Reactive arthritis may also be called:

A

Reiter syndrome

67
Q

Likely an immunologically mediated disease, triggered by an infectious agent:

A

Reactive arthritis

68
Q

With reactive arthritis, there is a genetic predisposition involving:

69
Q

List the clinical features of reactive arthritis:

A
  1. prevalent in young adult men
  2. Triad (urethritis, arthritis, conjunctivitis)
  3. erythematous papules in mouth
  4. shallow ulcers in mouth
  5. skin lesions on penis (balanitis circanata)
70
Q

What is the characteristic “triad” seen in reactive arthritis?

A
  1. urethritis (often first sign)
  2. arthritis (lower extremities)
  3. conjunctivitis
71
Q

What are the oral manifestations of reactive arthritis?

A
  1. erythematous papules
  2. shallow ulcers

(of the tongue, buccal mucosa, palate & gingiva)

72
Q

What is the term for this penile skin lesions seen in reactive arthritis?

A

Balanitis circanata

73
Q

What treatment is indicated for reactive arthritis?

A

NSAIDS for managing arthritis, corticosteroids, immunosuppresants

74
Q

Diagnose the following image:

A

reactive arthritis

75
Q

Diagnose the following image:

A

reactive arthritis

76
Q

Chronic skin disease that affects 2% of the population:

77
Q

What is the cause of psoriasis?

A

Increased proliferative activity of cutaneous keratinocytes

78
Q

What cells are involved in psoriasis?

A

cutaneous keratinocytes

79
Q

What factors play a roll in psoriasis?

A

Both genetic & environmental factors

80
Q

In people with psoriasis, the prevalence of ____ appears to be higher than in the general population

A

Erythema migrans

81
Q

List the clinical features of psoriasis:

A
  1. onset 20-30s
  2. persists for years with periods of exacerbation & inactivity
  3. MC on scalp, elbows, knees & often symmetrical
  4. well demarcated erythematous plaque with silvery scale on surface
  5. lesion improve during summer & worsen during the winter
82
Q

What treatment is indicated for psoriasis?

A

Topical corticosteroids for moderate involvement

83
Q

Diagnose the following image:

84
Q

Diagnose the following image:

85
Q

Immune mediated conditions that is one of the most common connective tissue diseases in the U.S.:

A

Lupus erythematosus

86
Q

Multisystem lupus; solid organs, cutaneous & oral manifestation:

A

systemic lupus erythematosus

87
Q

Form of Lupus that primarily affects the skin and oral mucosa:

A

Chronic cutaneous lupus erythematosus

88
Q

List the clinical features of lupus erythematosus (SLE):

A
  1. females 8-10x more common
  2. MC diagnosed in 40s
  3. fever
  4. weightloss
  5. arthritis
  6. fatigue
  7. butterfly rash
  8. sunlight exacerbation
89
Q

Describe the prevalence & location of the butterfly rash seen in lupus erythamatosus:

A

erythematous rash over the molar area & nose (40-50% of patients experience this)

90
Q

List the clinical features of lupus erythematosus (CCLE):

A
  1. few to no systemic signs or symptoms
  2. lesions limited to skin or mucosal surfaecs
  3. scaly, erythematous skin lesions in sun-exposed areas
  4. lichenoid appearing oral lesions (often associated with skin lesions)
91
Q

The lichenoid appearing oral lesions seen in CCLE, rarely occur in the absence of:

A

skin lesions

92
Q

How do you diagnose Lupus erythamatosus?

A

Antibodies directed against double stranded DNA (70% of SLE patients)

93
Q

What is the indicated treatment for lupus erythamatosus?

A
  1. avoid excessive sunlight exposure
  2. NSAIDs (mild cases)
  3. systemic corticosteroids
  4. immunosuppressive medications
94
Q

The prognosis of lupus erythematosus is dependent on:

A

The organs affected

95
Q

Diagnose the following image:

A

Lupus erythematosus

96
Q

Diagnose the following image:

A

Lupus erythematosus

97
Q

Diagnose the following image:

A

Lupus erythematosus

98
Q

Diagnose the following image:

A

Lupus erythematosus

99
Q

Diffuse edematous swelling of soft tissue involving subcutaneous & submucosal connective tissue:

A

angioedema

100
Q

What is the most common cause of angioedema?

A

mast cell degranulation resulting in histamine release

101
Q

Angioedema can be described as:

(what type of reaction)

A

IgE-mediated hypersensitivity

(drugs, foods, plants, dusts)

102
Q

What is alternative mechanism for angioedema?

A

ACE inhibitors (0.1-0.2%) –> excess bradykinin

103
Q

List the clinical features of angioedema:

A
  1. rapid onset of soft, nontender tissue swelling
  2. MC in extremities, face, neck, trunk, genitals
104
Q

ACE inhibitor associated angioedema invlvoles the release of ____ & most commonly affects:

A

bradykinin; head & neck (face, lips, tongue, FOM, pharynx, larynx); 3-4x more likely in black patients

105
Q

How do you diagnose angioedema?

A

Clinical presentation & determination of antigenic stimulus

106
Q

What treatment is indicated for angioedema?

A

allergic: oral antihistamine therapy

ACE inhibitor: avoid all medications in drug class

107
Q

Diagnose the following image:

A

Angioedema

108
Q

Diagnose the following image:

A

Angioedema

Pathology II (17 decks)

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