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

Skin & Mucosal Diseases- Part 1 Flashcards

1
Q

Two or more ectodermally derive structures fail to develop:

A

ectodermal dysplasia

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2
Q

Gives some examples of ectodermally derived structures:

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

Describe some modes of inheritance of ectodermal dysplasia:

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

List the clinical features of hyphohidrotic ectodermal dysplasia:

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

Treatment for 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 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 following image shows an individual that most likely has:

A

ectodermal dysplasia

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9
Q

The following image shows an individual that most 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 in oral mucosa

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13
Q

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

A

keratin 4 and keratin 13

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14
Q

List the clinical features 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 bilaterally
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15
Q

White sponge nevus most commonly occurs on the ____.

However, other locations include:

A

bucal mucosa (B/L)

  • ventral tongue
  • labial mucosa
  • soft palate
  • alveolar mucosa
  • FOM
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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 this histological appearance:

A

white sponge nevus

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21
Q

Diagnose the following image based on this 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 Ehler’s-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’s 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 of Ehler’s-Danlos syndrome is rare and has associated periodontal disease?

A

Type 8

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27
Q

Discuss the treatment indicated for Ehler’s-Danlos Syndrome:

A

Depends on subtype- mild type is compatible with a normal lifespan

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28
Q

Diagnose the following image:

A

Ehler’s Danlos Syndrome

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29
Q

Diagnose the following image:

A

Ehler’s Danlos Syndrome

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30
Q

Diagnose the following image:

A

Ehler’s 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 supressor gene (STK11)

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33
Q

List the clinical features of Peutz-Jeghers syndrome:

A
  1. Pigmented lesions on periorificial areas & extremitites
  2. Intestinal polyps
  3. increased frequency of other malignancies
  4. intraoral lesions
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34
Q

In Peutz-Jeghers syndrome, periorificial 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 lesion 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 with peutz-jeghers 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 genetic mutation resulting in a defect in the attachment mechanisms 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 mechanism of epithelial cells

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43
Q

List the clinical features 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 epidermolysis bullosa:

A

range from mild to severe

45
Q

What treatment is indicated for epidermolysis bullosa?

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

What may be recommended to patients with epidermolysis bullosa?

A

noncariogenic diet (soft foods), and autraumatic oral hygeine procedures

47
Q

What causes the blister formation see in in epidermolysis bullosa?

A

separation of epidermis and 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, pro-genital ulcerations, and systemic vasculitis:

A

Behçet Syndrome

55
Q

What is the cause of Behçet Syndrome?

A

abnormal immune process triggered by infectious or environmental antigen

56
Q

With Behçet Syndrome, there is a genetic predisposition involving:

A

HLA-B51

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 lesions (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 papule, vesicles, and pustules

60
Q

Describe the ocular involvement seen in Behçet Syndrome:

A
  1. uveitis
  2. conjunctivits
  3. corneal ulceration
  4. arteritis
  5. blindness (25% of patients)
61
Q

Describe the CNS involvement seen in Behçet Syndrome:

A

paralysis & dementia

62
Q

Describe the treatment indicated for Behçet Syndrome:

A

may require systemic meds such as corticosteroids and 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

List the clinical features of reactive arthritis:

A
  1. Prevalent in young adult men
  2. Triad (urethritis, arthritis, conjunctivitis)
  3. erythematous papule in mouth
  4. shallow ulcers in mouth
  5. skin lesions on penis (balanitis circinata)
68
Q

With reactive arthritis, there is a genetic predisposition involving:

A

HLA-B27

69
Q

What is the characteristic “triad” of reactive arthritis?

A
  1. urethritis (often first sign)
  2. arthritis (lower extremities)
  3. conjunctivitis
70
Q

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

A

balanits circinata

71
Q

What treatment is indicated for reactive arthritis?

A

NSAIDS for managing arthritis, corticosteroids, immunosuppressants

72
Q

What are the oral manifestations of reactive arthritis?

A
  1. erythematous papules
  2. shallow ulcers

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

73
Q

Diagnose the following image:

A

reactive arthritis

74
Q

Diagnose the following image:

A

reactive arthritis

75
Q

Chronic skin disease that affects 2% of the population:

A

psoriasis

76
Q

What is the cause of psoriasis?

A

increased proliferative activity of cutaneous keratinocytes

77
Q

What cells are involved in psoriasis?

A

cutaneous keratinocytes

78
Q

What factors play a role in psoriasis?

A

genetics AND environmental

79
Q

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

A

erythema migrans

79
Q

List the clinical features of psoriasis:

A
  1. onset 20-30s
  2. persists for years with periods of exacerbation and inactivity
  3. MC on scalp, elbows, knees and often symmetrical
  4. well demarcated, erythematous plaque with silvery scale on surface
  5. lesions improve during summer and worsen during sinter
80
Q

What treatment is indicated for psoriasis?

A

topical corticosteroids for moderate involvement

81
Q

Diagnose the following image:

A

psoriasis

81
Q

Diagnose the following image:

A

psoriasis

82
Q

Immune-mediated condition that is one of the most common connective tissue diseases in the US:

A

Lupus erthematosus

82
Q

Multisystem lupus disease: solid organs, cutaneous and oral manifestations:

A

Systemic lupus erythematosus

83
Q

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

A

chronic cutaneous lupus erythematosus

84
Q

List the clinical features of lupus erythematosus: (SLE)

A
  1. female 8-10x more common
  2. most commonly diagnosed in 40s
  3. fever
  4. weightloss
  5. arthritis
  6. fatigue
  7. butterfly rash
  8. sunlight exacerbation
84
Q

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

A

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

84
Q

Clinical features of lupus erythematosus (CCLE):

A
  1. few to no systemic signs or symptoms
  2. lesions limited to skin or mucosal surfaces
  3. scaly, erythematous skin lesions in sun exposed area
  4. lichenoid appearing oral lesions (often associated with skin lesions)
85
Q

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

A

skin lesions

86
Q

How do you diagnose lupus erythematosus?

A

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

86
Q

What is the indicated treatment of lupus erythematosus?

A
  1. avoid excessive sunlight exposure
  2. NSAIDs (mild cases)
  3. systemic corticosteroids
  4. immunosuppressive medications
87
Q

The prognosis of lupus erythematosus is dependent upon:

A

the organs effected

88
Q

Diagnose the following image:

A

lupus erythematosus

89
Q

Diagnose the following image:

A

lupus erythematosus

90
Q

Diagnose the following image:

A

lupus erythematosus

90
Q

Diagnose the following image:

A

lupus erythematosus

90
Q

Diffuse, edematous swelling of soft tissue involving subcutaneous and submucosal connective tissues:

A

Angioedema

90
Q

What is the most common cause of angioedema?

A

mass cell degranulation resulting in histamine release

91
Q

Angioedema can be described as: (reaction?)

A

IgE-mediated hypersensitivity (drugs, foods, plants, dusts)

92
Q

What is an alternative mechanisms for angioedema?

A

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

93
Q

LIst the clinical features of angioedema:

A
  1. rapid onset of soft, nontender tissue swelling
  2. MC in extremities, face, neck, trunk, genitals
94
Q

ACE-inhibitor associated angioedema, involves the release of ____ and most commonly affects:

A

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

95
Q

How do you diagnose angioedema?

A

clinical presentation and determination of antigenic stimulus

96
Q

What treatment is indicated for angioedema?

A

allergic: oral antihistamine therapy

ACE-inhibitor: avoid all medications in drug class

96
Q

What can be seen in the following image?

A

angioedema

97
Q

Diagnose the following image:

A

angioedema

Pathology II (17 decks)

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