Skin and Mucosal Diseases I Flashcards

1
Q

Ectodermal dysplasia
(2)

A

 Two or more ectodermally derived structures fail to develop
- Hair, skin, nails, teeth, sweat glands, salivary glands
 AD, AR, X-linked inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Ectodermal dysplasia
 Clinical features:
 Hypohidrotic ectodermal dysplasia:
(5)

A

 Male predominance
 Reduced number of sweat glands → cannot regulate heat
 Sparse hair, reduced eyebrows, eyelashes
 Salivary glands may be hypoplastic or absent
 Teeth – hypodontia, abnormal shape

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Ectodermal dysplasia
Treatment: (2)

A

genetic counseling, prosthetic appliances

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

White sponge nevus
 Defect in
 inheritance
 mutations

A

the normal keratinization of oral mucosa
AD
Keratin 4, Keratin 13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

White sponge nevus
 Clinical features:
who
appearance
appearance
MC
where (5)

A

 Usually appear at birth, early childhood
 Symmetrical, thickened plaques
 White, corrugated appearance
 MC buccal mucosa bilaterally
 Ventral tongue, labial mucosa, soft palate, alveolar mucosa, FOM

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

White sponge nevus
Treatment:

A

none

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Ehlers-Danlos syndrome
(2)

A

 Connective tissue disorder, production of abnormal collagen
 Many genes involved

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Ehlers-Danlos syndrome
 Clinical features:
(5)

A

 Hyperelasticity of the skin, cutaneous fragility
 Hypermobility of joints – remarkable flexibility
 Patients may bruise easily
 Gorlin sign: touch the tip of the nose with tongue! (50% of patients)
 Type VIII – rare type, periodontal disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Ehlers-Danlos syndrome
Treatment: Depends on subtype
 Mild type:

A

compatible with normal life span

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Peutz-Jeghers syndrome
(2)

A

 AD inheritance
 Mutations in tumor-suppressor gene – STK11

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Peutz-Jeghers syndrome
 Clinical features:
(4)

A

 Pigmented lesions on periorificial areas (mouth, nose, anus, genital region) and
extremities
 Intestinal polyps – may develop into adenocarcinoma
 Increased frequency of other malignancies
 Intraoral lesions: buccal mucosa, labial mucosa, tongue

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Peutz-Jeghers syndrome
 Treatment:

A

patients should be monitored for tumor development

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Epidermolysis bullosa
(3)

A

 Mucocutaneous disease, several types
 Genetic mutation
 Defect in attachment mechanisms of epithelial cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Epidermolysis bullosa
 Clinical features:
(3)

A

 Vesicles and bullae develop from low-grade trauma
 Result in erosions and ulcerations that cause scarring
 Minor forms and severe forms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Epidermolysis bullosa
 Oral: (3)

A

gingival erythema, recession, loss of vestibule depth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Epidermolysis bullosa
 Treatment:

A

wound care, antibiotics, surgery
 Recommend noncariogenic diet (soft foods), atraumatic oral hygiene
procedures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Behçet syndrome
(Behçet Disease)
 Combination of (3)
 Abnormal immune process triggered by
 Genetic predisposition –

A

chronic ocular inflammation, oro-genital ulcerations, and
systemic vasculitis
an infectious or environmental antigen
HLA-B51

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Behçet syndrome
(Behçet Disease)
 Clinical features:
 MC age
 Increased prevalence in (gender)
 Most patients have
 Ulcerations may appear similar to
 Usually surrounded by a
 Genital lesions:

A

3rd and 4th decade
males
oral ulcerations
aphthous stomatitis
larger area of erythema
irregular ulcerations

19
Q

Behçet syndrome
(Behçet Disease)
 Clinical features:
 Vascular disease:
 Cutaneous lesions: (3)
 Ocular involvement: (4)
 Blindness occurs in –% patients
 CNS involvement: includes (2)

A

veins affected more frequently – inflammation, thrombi
erythematous papules, vesicles, pustules
uveitis, conjunctivitis, corneal ulceration, arteritis
25
paralysis and dementia

20
Q

Behçet syndrome
(Behçet Disease)
 Treatment:

A

may require systemic meds (corticosteroids,
immunosuppressants)

21
Q

Reactive Arthritis
Reiter syndrome
(2)

A

 Likely an immunologically mediated disease, triggered by an infectious
agent
 Genetic predisposition – HLA-B27

22
Q

Reactive Arthritis
Reiter syndrome
 Clinical features:
(2)

A

 Prevalent in young adult men
 Triad:

23
Q

 Triad:

A

 Urethritis (often first sign)
 Arthritis –usually affects joints of lower extremities
 Conjunctivitis

24
Q

Reactive Arthritis
Reiter syndrome
 Clinical features:
 Oral:
 Skin lesions:

A

erythematous papules, shallow ulcers
 Tongue, buccal mucosa, palate, gingiva

on penis – balanitis circinata:
 Similar appearance to geographic tongue

25
Q

Reactive Arthritis
Reiter syndrome
 Treatment:

A

NSAIDS for managing arthritis, corticosteroids,
immunosuppressants

26
Q

Psoriasis
 US
 Problem?
 (2) factors may play a role
 Prevalence of — appears to be higher than general
population

A

Chronic skin disease, affects 2% of US population
Increased proliferative activity of cutaneous keratinocytes
Genetic and environmental
erythema migrans

27
Q

Psoriasis
 Clinical features:
 Onset during
 How long?
 MC on
 Appearance
 Lesions improve during — and worsen during the —

A

2nd-3rd decade
Persists for years, with periods of exacerbation and inactivity
scalp, elbows, knees – often symmetrically distributed
Well-demarcated, erythematous plaque with silvery scale on surface
summer, winter

28
Q

Psoriasis
Treatment:

A

topical corticosteroids for moderate involvement

29
Q

Lupus erythematosus
(2)

A

 Immune mediated condition
 Common connective tissue disease in the US

30
Q

 Systemic lupus erythematosus (SLE):

A

multisystem disease: solid organs,
cutaneous and oral manifestation

31
Q

 Chronic cutaneous lupus erythematosus (CCLE):

A

primarily affects skin and
oral mucosa

32
Q

Lupus erythematosus
 Clinical features: (SLE)
gender
age
symptoms (4)
symptom
— may exacerbate lesion

A

 Females: 8-10x more common
 MC diagnosis in 4th decade
 Fever, weight loss, arthritis, fatigue
 Butterfly rash (erythematous rash) over malar area and nose (40-50% patients)
 Sunlight

33
Q

Lupus erythematosus
 Clinical features (SLE):
(2)

A

 Kidneys affected (40-50% patients) – may lead to kidney failure
 Cardiac involvement - endocarditis

34
Q

Lupus erythematosus (SLE)
 Oral lesions:

A

may appear lichenoid, erythema and ulcerations may be present
 often nonspecific
 palate, buccal mucosa, lips, gingiva

35
Q

Lupus erythematosus
 Clinical features (CCLE):
(3)

A

 Few or no systemic signs or symptoms
 Lesions limited to skin or mucosal surfaces
 Skin lesion: scaly, erythematous patches (sun-exposed skin)

36
Q

Lupus erythematosus (CCLE)
 Oral lesions:

A

lichenoid appearance
 Rarely occur in absence of skin lesions

37
Q

Lupus erythematosus
 Diagnosis:

A

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

38
Q

Lupus erythematosus
Treatment:
 Avoid
 Mild cases may be managed with
 Severe cases:
 Prognosis depends on

A

excessive sunlight exposure
NSAIDS
systemic corticosteroids, immunosuppressive medications
organs affected

39
Q

Angioedema

 involves
 MC cause:

A

Diffuse, edematous swelling of soft tissue
subcutaneous and submucosal connective tissue
mast cell degranulation → histamine release
IgE-mediated hypersensitivity (drugs, foods, plants, dusts)

40
Q

Angioedema
 Alternative mechanism:

A

ACE inhibitors (0.1 – 0.2%)
 Excess bradykinin

41
Q

Angioedema
 Clinical features:
 Rapid onset of
 MC in
 ACE-inhibitor associated angioedema:

A

soft, nontender tissue swelling
extremities, also face, neck, trunk, genitals

frequently affects H&N
- Face, lips, tongue, FOM, pharynx, larynx
- 3-4x Black patients

42
Q

Angioedema
 Diagnosis:

A

 Clinical presentation and determination of antigenic stimulus

43
Q

Angioedema
 Treatment:
 Allergic:
 ACE-inhibitor:

A

oral antihistamine therapy
avoid all medications in drug class