Skin & Mucosal Diseases- Part 1 Flashcards
(108 cards)
1
Q
Two or more ectodermally derive structures fail to develop:
A
ectodermal dysplasia
2
Q
Gives some examples of ectodermally derived structures:
A
- hair
- skin
- nails
- teeth
- sweat glands
- salivary glands
3
Q
Describe some modes of inheritance of ectodermal dysplasia:
A
- autosomal dominant
- autosomal recessive
- x-linked
4
Q
List the clinical features of hyphohidrotic ectodermal dysplasia:
A
- male predominance
- reduced # of sweat glands
- sparse hair, reduced eyebrows, and eyelashes
- hypoplastic or absent salivary glands
- hypodontia
- abnormally shaped teeth
5
Q
Treatment for ectodermal dysplasia:
A
- genetic counseling
- prosthetic appliances
6
Q
What is a consequence of the reduced number of sweat glands in individuals with ectodermal dysplasia?
A
cannot regulate heat
7
Q
What are some oral manifestations of ectodermal dysplasia?
A
- hypodontia
- abnormal teeth shape
8
Q
The following image shows an individual that most likely has:
A
ectodermal dysplasia
9
Q
The following image shows an individual that most likely has:
A
ectodermal dysplasia
10
Q
Defect in the normal keratinization of oral mucosa:
A
White sponge nevus
11
Q
Describe the inheritance of white sponge nevus:
A
Autosomal Dominant
12
Q
White sponge nevus is a result of a defect in:
A
normal keratinization in oral mucosa
13
Q
What specific types of keratin are mutated in white sponge nevus?
A
keratin 4 and keratin 13
14
Q
List the clinical features of white sponge nevus:
A
- appears at birth/early childhood
- symmetrical thickened plaques
- white appearance
- corrugated appearance
- MC buccal mucosa bilaterally
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
16
Q
What treatment is indicated for white sponge nevus?
A
None
17
Q
Diagnose the following image:
A
white sponge nevus
18
Q
Diagnose the following image:
A
white sponge nevus
19
Q
Diagnose the following image:
A
white sponge nevus
20
Q
Diagnose the following image based on this histological appearance:
A
white sponge nevus
21
Q
Diagnose the following image based on this histological appearance:
A
white sponge nevus
22
Q
Connective tissue disorder characterized by abnormal collagen production:
A
Ehlers-Danlos Syndrome
23
Q
What genes are involved in Ehlers-Danlos syndrome?
A
many
24
Q
List the clinical features of Ehler’s-Danlos syndrome:
A
- Hyperplasticity of the skin (cutaneous fragility)
- Hypermobility of joints (remarkable flexibility)
- Bruise easily
- Gorlin sign
25
Describe the Gorlin's sign. What disease does this present with?
Touch tip of nose with tongue; Ehlers-Danlos syndrome
26
What type of Ehler's-Danlos syndrome is rare and has associated periodontal disease?
Type 8
27
Discuss the treatment indicated for Ehler's-Danlos Syndrome:
Depends on subtype- mild type is compatible with a normal lifespan
28
Diagnose the following image:
Ehler's Danlos Syndrome
29
Diagnose the following image:
Ehler's Danlos Syndrome
30
Diagnose the following image:
Ehler's Danlos Syndrome
31
Describe the inheritance pattern of Peutz-Jeghers Syndrome:
Autosomal Dominant Inheritance
32
What mutations are present in Peutz-Jeghers syndrome?
Mutation in tumor supressor gene (STK11)
33
List the clinical features of Peutz-Jeghers syndrome:
1. Pigmented lesions on periorificial areas & extremitites
2. Intestinal polyps
3. increased frequency of other malignancies
4. intraoral lesions
34
In Peutz-Jeghers syndrome, periorificial areas are susceptible to pigmented lesions. List where these may appear:
1. mouth
2. nose
3. anus
4. genital region
35
What is a risk associated with the intestinal polyps seen in peutz-jeghers syndrome?
may develop into adenocarcinoma
36
Intraoral lesion seen in peutz-jeghers syndrome may be seen on:
1. buccal mucosa
2. labial mucosa
3. tongue
37
Describe the treatment indicated with peutz-jeghers syndrome:
patients should be monitored for tumor development
38
Diagnose the following image:
peutz-jeghers syndrome
39
Diagnose the following image:
peutz-jeghers syndrome
40
Diagnose the following image:
peutz-jeghers syndrome
41
A mucocutaneous disease caused by genetic mutation resulting in a defect in the attachment mechanisms of epithelial cells
Epidermolysis bullosa
42
Epidermolysis bullosa is a genetic mutation resulting in:
defect in the attachment mechanism of epithelial cells
43
List the clinical features of epidermolysis bullosa:
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
44
Describe the forms of epidermolysis bullosa:
range from mild to severe
45
What treatment is indicated for epidermolysis bullosa?
1. wound care
2. antibiotics
3. surgery
46
What may be recommended to patients with epidermolysis bullosa?
noncariogenic diet (soft foods), and autraumatic oral hygeine procedures
47
What causes the blister formation see in in epidermolysis bullosa?
separation of epidermis and dermis
48
What collagen may be affected in epidermolysis bullosa?
collagen 7
49
Diagnose the following histological image?
Epidermolysis bullosa
50
Diagnose the following image
Epidermolysis bullosa
51
Diagnose the following image
Epidermolysis bullosa
52
Diagnose the following image
Epidermolysis bullosa
53
Diagnose the following image
Epidermolysis bullosa
54
Combination of chronic ocular inflammation, pro-genital ulcerations, and systemic vasculitis:
Behçet Syndrome
55
What is the cause of Behçet Syndrome?
abnormal immune process triggered by infectious or environmental antigen
56
With Behçet Syndrome, there is a genetic predisposition involving:
HLA-B51
57
List the clinical features of Behçet Syndrome:
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
Describe the vascular disease seen in individuals with Behçet Syndrome:
Veins affected more frequently; inflammation & thrombi
59
Describe the cutaneous lesions seen in Behçet Syndrome:
erythematous papule, vesicles, and pustules
60
Describe the ocular involvement seen in Behçet Syndrome:
1. uveitis
2. conjunctivits
3. corneal ulceration
4. arteritis
5. blindness (25% of patients)
61
Describe the CNS involvement seen in Behçet Syndrome:
paralysis & dementia
62
Describe the treatment indicated for Behçet Syndrome:
may require systemic meds such as corticosteroids and immunosuppressants
63
Diagnose the following image:
Behçet Syndrome
64
Diagnose the following image:
Behçet Syndrome
65
Diagnose the following image:
Behçet Syndrome
66
Reactive arthritis may also be called:
Reiter Syndrome
67
Likely an immunologically mediated disease, triggered by an infectious agent:
Reactive arthritis
68
List the clinical features of reactive arthritis:
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
With reactive arthritis, there is a genetic predisposition involving:
HLA-B27
69
What is the characteristic "triad" of reactive arthritis?
1. urethritis (often first sign)
2. arthritis (lower extremities)
3. conjunctivitis
70
What is the term for penile skin lesions seen in reactive arthritis?
balanits circinata
71
What treatment is indicated for reactive arthritis?
NSAIDS for managing arthritis, corticosteroids, immunosuppressants
72
What are the oral manifestations of reactive arthritis?
1. erythematous papules
2. shallow ulcers
(of the tongue, buccal mucosa, palate, & gingiva)
73
Diagnose the following image:
reactive arthritis
74
Diagnose the following image:
reactive arthritis
75
Chronic skin disease that affects 2% of the population:
psoriasis
76
What is the cause of psoriasis?
increased proliferative activity of cutaneous keratinocytes
77
What cells are involved in psoriasis?
cutaneous keratinocytes
78
What factors play a role in psoriasis?
genetics AND environmental
79
In people with psoriasis, the prevalence of ____ appears to be higher than the general population
erythema migrans
79
List the clinical features of psoriasis:
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
What treatment is indicated for psoriasis?
topical corticosteroids for moderate involvement
81
Diagnose the following image:
psoriasis
81
Diagnose the following image:
psoriasis
82
Immune-mediated condition that is one of the most common connective tissue diseases in the US:
Lupus erthematosus
82
Multisystem lupus disease: solid organs, cutaneous and oral manifestations:
Systemic lupus erythematosus
83
Form of lupus that primarily affects the skin and oral mucosa:
chronic cutaneous lupus erythematosus
84
List the clinical features of lupus erythematosus: (SLE)
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
Describe the prevalence & location of the butterfly rash seen in lupus erythamtosus:
Erythematous rash over the molar area and nose (40-50% of patients experience this)
84
Clinical features of lupus erythematosus (CCLE):
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
The lichenoid appearing oral lesions seen in CCLE, rarely occur in the absence of:
skin lesions
86
How do you diagnose lupus erythematosus?
antibodies directed against double-stranded DNA (70% of SLE patients)
86
What is the indicated treatment of lupus erythematosus?
1. avoid excessive sunlight exposure
2. NSAIDs (mild cases)
3. systemic corticosteroids
4. immunosuppressive medications
87
The prognosis of lupus erythematosus is dependent upon:
the organs effected
88
Diagnose the following image:
lupus erythematosus
89
Diagnose the following image:
lupus erythematosus
90
Diagnose the following image:
lupus erythematosus
90
Diagnose the following image:
lupus erythematosus
90
Diffuse, edematous swelling of soft tissue involving subcutaneous and submucosal connective tissues:
Angioedema
90
What is the most common cause of angioedema?
mass cell degranulation resulting in histamine release
91
Angioedema can be described as: (reaction?)
IgE-mediated hypersensitivity (drugs, foods, plants, dusts)
92
What is an alternative mechanisms for angioedema?
ACE inhibitors (0.1-0.2%) --> excess bradykinin
93
LIst the clinical features of angioedema:
1. rapid onset of soft, nontender tissue swelling
2. MC in extremities, face, neck, trunk, genitals
94
ACE-inhibitor associated angioedema, involves the release of ____ and most commonly affects:
bradykinin; head & neck (face, lips, tongue, FOM, pharynx, larynx); 3-4x more likely in black patients
95
How do you diagnose angioedema?
clinical presentation and determination of antigenic stimulus
96
What treatment is indicated for angioedema?
allergic: oral antihistamine therapy
ACE-inhibitor: avoid all medications in drug class
96
What can be seen in the following image?
angioedema
97
Diagnose the following image:
angioedema
