Skin & Mucosal Disease- Part 1 Flashcards
(109 cards)
1
Q
Two or more ectoderm ally derived structures fail to develop:
A
Ectodermal dysplasia
2
Q
Give examples of some ectodermally derived structures that may fail to develop in ectodermal dysplasia:
A
- hair
- skin
- nails
- teeth
- sweat glands
- salivary glands
3
Q
Describe the modes of inheritance seen in ectodermal dysplasia:
A
- autosomal dominant
- autosomal recessive
- X-linked
4
Q
List the clinical features of hypohidrotic ectodermal dysplasia:
A
- male predominance
- reduced number of sweat glands
- sparse hair, reduced eyebrows & eyelashes
- salivary glands may be hypoplastic or absent
- hypodontia
- abnormally shaped teeth
5
Q
What is the treatment for hypohidrotic ectodermal dysplasia?
A
- genetic counseling
- prosthetic appliances
6
Q
What is a consequence of the reduced number of sweat glands seen 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 individual in the following image likely has:
A
Ectodermal dysplasia
9
Q
The individual in the following image 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 of oral mucosa
13
Q
What specific types of keratin are mutated in white sponge nevus?
A
Keratin 4 & keratin 13
14
Q
List the clinical feature of white sponge nevus:
A
- appears at birth/early childhood
- symmetrical thickened plaques
- white appearance
- corrugated appearance
- MC buccal mucosa B/L
15
Q
White sponge nevus most commonly occurs on the _____. However other locations include:
A
buccal mucosa (B/L)
- ventral tongue
- labial mucosa
- soft palate
- alveolar mucosa
- floor of mouth
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 the histological appearance:
A
white sponge nevus
21
Q
Diagnose the following image based on the 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 Ehlers-danlos syndrome:
A
- hyperplasticity of the skin (cutaneous fragility)
- hypermobility of joints (remarkable flexibility)
- bruise easily
- gorlin sign
25
Describe the gorlin sign; what disease does this present with?
-touch tip of nose with tongue; Ehlers-danlos syndrome
26
What type Ehlers-danlos syndrome is rare & has associated periodontal disease?
Type 8
27
Discuss the indicated treatment for Ehlers-Danlos syndrome:
depends on sub-type; mild-type is compatible with normal life span
28
Diagnose the following image:
Ehlers-danlos syndrome
29
Diagnose the following image:
Ehlers-danlos syndrome
30
Diagnose the following image:
Ehlers-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 suppressor gene STK11
33
List the clinical features of Peutz-Jeghers syndrome:
1. pigmented lesions on periorificial areas & extremities
2. intestinal polyps
3. increased frequencies of other malignancies
4. intraoral lesions
34
In Peutz-Jeghers syndrome, periorificials 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 lesions seen in Peutz-Jeghers syndrome may be seen on:
1. buccal mucosa
2. labial mucosa
3. tongue
37
Describe the treatment indicated Peutz-Jegher 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 a genetic mutation resulting in a defect in the attachment mechanism of epithelial cells:
Epidermolysis bullosa
42
Epidermolysis bullosa is a genetic mutation resulting in:
defect in the attachment mechanisms of epithelial cells
43
List the clinical feature 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 epidermoylsis bullosa:
multiple forms ranging from mild to severe
45
What treatment is indicated in cases of epidermolysis bullosa?
1. wound care
2. antibiotics
3. surgery
46
What may be recommended to patients epidermolysis bullosa?
noncariogenic diet (soft foods) & atraumatic oral hygiene procedures
47
What causes the blister formation seen in epidermolysis bullosa?
Separation of epidermis & 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, oro-genital ulcerations & systemic vasculitis:
Behçet Syndrome
55
What is the cause of Behçet Syndrome?
Abnormal immune process triggered by an 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 lesion (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 papules, vesicles and pustules
60
Describe the ocular involvement seen in Behçet Syndrome:
-uveitis
-conjunctivitis
-corneal ulceration
-arteritis
-blindness in 25% of patients
61
Describe the CNS involvement seen in Behçet Syndrome:
paralysis & dimentia
62
Describe the treatment indicated in Behçet Syndrome:
May require systemic meds such as corticosteroids & 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
With reactive arthritis, there is a genetic predisposition involving:
HLA-B27
69
List the clinical features of reactive arthritis:
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
What is the characteristic "triad" seen in reactive arthritis?
1. urethritis (often first sign)
2. arthritis (lower extremities)
3. conjunctivitis
71
What are the oral manifestations of reactive arthritis?
1. erythematous papules
2. shallow ulcers
(of the tongue, buccal mucosa, palate & gingiva)
72
What is the term for this penile skin lesions seen in reactive arthritis?
Balanitis circanata
73
What treatment is indicated for reactive arthritis?
NSAIDS for managing arthritis, corticosteroids, immunosuppresants
74
Diagnose the following image:
reactive arthritis
75
Diagnose the following image:
reactive arthritis
76
Chronic skin disease that affects 2% of the population:
Psoriasis
77
What is the cause of psoriasis?
Increased proliferative activity of cutaneous keratinocytes
78
What cells are involved in psoriasis?
cutaneous keratinocytes
79
What factors play a roll in psoriasis?
Both genetic & environmental factors
80
In people with psoriasis, the prevalence of ____ appears to be higher than in the general population
Erythema migrans
81
List the clinical features of psoriasis:
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
What treatment is indicated for psoriasis?
Topical corticosteroids for moderate involvement
83
Diagnose the following image:
psoriasis
84
Diagnose the following image:
psoriasis
85
Immune mediated conditions that is one of the most common connective tissue diseases in the U.S.:
Lupus erythematosus
86
Multisystem lupus; solid organs, cutaneous & oral manifestation:
systemic lupus erythematosus
87
Form of Lupus that primarily affects the skin and oral mucosa:
Chronic cutaneous lupus erythematosus
88
List the clinical features of lupus erythematosus (SLE):
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
Describe the prevalence & location of the butterfly rash seen in lupus erythamatosus:
erythematous rash over the molar area & nose (40-50% of patients experience this)
90
List the clinical features of lupus erythematosus (CCLE):
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
The lichenoid appearing oral lesions seen in CCLE, rarely occur in the absence of:
skin lesions
92
How do you diagnose Lupus erythamatosus?
Antibodies directed against double stranded DNA (70% of SLE patients)
93
What is the indicated treatment for lupus erythamatosus?
1. avoid excessive sunlight exposure
2. NSAIDs (mild cases)
3. systemic corticosteroids
4. immunosuppressive medications
94
The prognosis of lupus erythematosus is dependent on:
The organs affected
95
Diagnose the following image:
Lupus erythematosus
96
Diagnose the following image:
Lupus erythematosus
97
Diagnose the following image:
Lupus erythematosus
98
Diagnose the following image:
Lupus erythematosus
99
Diffuse edematous swelling of soft tissue involving subcutaneous & submucosal connective tissue:
angioedema
100
What is the most common cause of angioedema?
mast cell degranulation resulting in histamine release
101
Angioedema can be described as:
(what type of reaction)
IgE-mediated hypersensitivity
(drugs, foods, plants, dusts)
102
What is alternative mechanism for angioedema?
ACE inhibitors (0.1-0.2%) --> excess bradykinin
103
List the clinical features of angioedema:
1. rapid onset of soft, nontender tissue swelling
2. MC in extremities, face, neck, trunk, genitals
104
ACE inhibitor associated angioedema invlvoles the release of ____ & most commonly affects:
bradykinin; head & neck (face, lips, tongue, FOM, pharynx, larynx); 3-4x more likely in black patients
105
How do you diagnose angioedema?
Clinical presentation & determination of antigenic stimulus
106
What treatment is indicated for angioedema?
allergic: oral antihistamine therapy
ACE inhibitor: avoid all medications in drug class
107
Diagnose the following image:
Angioedema
108
Diagnose the following image:
Angioedema
109
