skin and mucosal dx 1 Flashcards

1
Q

Ectodermal dysplasia
 what fails to develop? examples?
inheritance pattern?

A

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

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2
Q

Ectodermal dysplasia
 Clinical features of the most common form:
 sex?
 sweat?
 hair?
 Salivary glands?
 Teeth?

A

 Hypohidrotic ectodermal dysplasia (most common form):
 Male predominance
 Reduced number of sweat glands → cannot regulate heat (resemble infection in neonates)
 Sparse hair, reduced eyebrows, eyelashes
 Salivary glands may be hypoplastic or absent
 Teeth – hypodontia, abnormal shape

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3
Q

ecto dysplasia tx

A

Genetic counseling, prosthetic appliance

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4
Q

likely dx?

A

ED

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5
Q

White sponge nevus
 Defect in?
inheritance?
 mutation?

A

 Defect in the normal keratinization of oral mucosa= hyperkerstosis
 AD inheritance
 Keratin 4, Keratin 13 mutation

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6
Q

White sponge nevus
 Clinical features:
 Usually appear when?
 app?
 MC location?
 other locations?
 Treatment:

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
 Treatment: none

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7
Q

likely dx? dif?

A

white sponge nevus
dif: cheek biting, leukoedema, LP, candidasis

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8
Q

likely? dif?

A

white sponge nevus
dif: cheek biting, leukoedema, LP, candidasis

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9
Q

white spoong nevus histo

A

hyperkeratosis and acanthosis at low power and peri-nuclear condensation of keratin tonilfilaments

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10
Q

what is this?

A

white sponge nevus biopsy: peri-nuclear condensation of keratin tonilfilaments

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11
Q

Ehlers-Danlos syndrome
 def
 genes involved?

A

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

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12
Q

Ehlers-Danlos syndrome
 Clinical features: skin, joints, bruising, Gorlin sign?
 Type VIII ?

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

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13
Q

Ehlers-Danlos syndrome tx:
depends on?
mild type?

A

 Treatment: Depends on subtype
 Mild type: compatible with normal life span

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14
Q

Peutz-Jeghers syndrome
 inheritance?
 Mutations?

A

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

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15
Q

Peutz-Jeghers syndrome
 Clinical features:
 Pigmented lesions where?
 Intestinal?
 Increased frequency of?
 Intraoral lesions where?

A

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

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16
Q

Peutz-Jeghers syndrome tx

A

patients should be monitored for tumor development

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17
Q

likely dx? dif?

A

preutz jaeger
dif: oral melanotic macules

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18
Q

Epidermolysis bullosa
 dx type?
 cause?
 Defect in?

A

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

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19
Q

Epidermolysis bullosa
 what can develop from low-grade trauma?
 Result in? causing?
 forms?
 Oral signs?

A

 Vesicles and bullae develop from low-grade trauma
 Result in erosions and ulcerations that cause scarring
 Minor forms and severe forms
 Oral: gingival erythema, recession, loss of vestibule depth

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20
Q

Epidermolysis bullosa bullae structure

A
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21
Q

Epidermolysis bullosa tx

A

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

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22
Q

histo of?

A

Epidermolysis bullosa or pemphigoid

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23
Q

likely?

A

Epidermolysis bullosa

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24
Q
A

white sponge nevus

25
Q

Behçet syndrome (Behçet Disease)
 Combination of?
 Abnormal process? triggeR?
 Genetic predisposition?

A

 Combination of chronic ocular inflammation, oro-genital ulcerations, and systemic vasculitis
 Abnormal immune process triggered by an infectious or environmental antigen
 Genetic predisposition – HLA-B51

26
Q

Behçet syndrome (Behçet Disease)
 Clinical features:
 MC age?
 Increased prevalence in?
 Most patients have what oral sign?
 Genital lesions?

A

 MC 3rd and 4th decade
 Increased prevalence in males
 Most patients have oral ulcerations: Ulcerations may appear similar to aphthous stomatitis, Usually surrounded by a larger area of erythema (not specific)
 Genital lesions: irregular ulcerations

27
Q

Behçet syndrome (Behçet Disease)
 Clinical features:
 Vascular?
 Cutaneous lesions?
 Ocular?
 Blindness %?
 CNS involvement?

A

 Vascular disease: veins affected more frequently – inflammation, thrombi
 Cutaneous lesions: erythematous papules, vesicles, pustules
 Ocular involvement: uveitis, conjunctivitis, corneal ulceration, arteritis
 Blindness occurs in 25% patients
 CNS involvement: includes paralysis and dementi

28
Q

Behçet syndrome
(Behçet Disease) tx

A

may require systemic meds (corticosteroids,
immunosuppressants)

29
Q

likely? (pt also presents with conjunctivitis/ corneal ulceration)

A

Behçet syndrome

30
Q

pt has oral ulcerations and conjuctivitis, likely dx? (35 yo male)

A

Behçet syndrome

31
Q

Reactive Arthritis/ Reiter syndrome
 Likely an?
 Genetic predisposition?

A

 Likely an immunologically mediated disease, triggered by an infectious agent
 Genetic predisposition – HLA-B2

32
Q

Reactive Arthritis/ Reiter syndrome
 Clinical features:
 Prevalent in?
 Triad:

A

 Prevalent in young adult men
 Triad:
 Urethritis (often first sign)
 Arthritis –usually affects joints of lower extremities
 Conjunctivitis

33
Q

Reactive Arthritis/ Reiter syndrome
 Clinical features:
 Oral? where?
 Skin lesions?

A

 Oral: erythematous papules, shallow ulcers (non-specific)
 On tongue, buccal mucosa, palate, gingiva
 Skin lesions on penis – balanitis circinata: Similar appearance to geographic tongue

34
Q

Reactive Arthritis/ Reiter syndrome tx

A

NSAIDS for managing arthritis, corticosteroids, immunosuppressants

35
Q

young man with urethritis as well

A

Reactive Arthritis

36
Q

young male who also has urethrhitis, conjuctivits and joint pain

A

reactive arthritis

37
Q

Psoriasis
 chronic? % affected?
 Increased activity?
 factors playing a role?
 Prevalence of erythema migrans?

A

 Chronic skin disease, affects 2% of US population
 Increased proliferative activity of cutaneous keratinocytes
 Genetic and environmental factors may play a role
 Prevalence of erythema migrans appears to be higher than general population

38
Q

Psoriasis Clinical features:
 Onset during what ages?
 Persists for?
 MC on? distribution?
 app?
 Lesions seasonality?

A

 Onset during 2nd-3rd decade
 Persists for years, with periods of exacerbation and inactivity
 MC on scalp, elbows, knees – often symmetrically distributed
 Well-demarcated, erythematous plaque with silvery scale on surface
 Lesions improve during summer and worsen during the winte

39
Q

psoarisis tx

A

topical corticosteroids for moderate involvement

40
Q

middle aged woman

A

Psoriasis

41
Q

likely?

A

Psoriasis

42
Q

Lupus erythematosus
 mediated by?
 Common?
 Systemic lupus erythematosus (SLE)
 Chronic cutaneous lupus erythematosus (CCLE)

A

 Immune mediated condition
 Common connective tissue disease in the US
 Systemic lupus erythematosus (SLE): multisystem disease: solid organs, cutaneous and oral manifestation
 Chronic cutaneous lupus erythematosus (CCLE): primarily affects skin and oral mucosa

43
Q

Lupus erythematosus
 Clinical features: (SLE)
 sex?
 MC diagnosis decade?
 signs/symptoms?
 common rash?

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 may exacerbate lesion

44
Q

Lupus erythematosus
 Clinical features (SLE):
 Kidneys?
 Cardiac?
 Oral lesions? specific? where?

A

 Kidneys affected (40-50% patients) – may lead to kidney failure
 Cardiac involvement - endocarditis
 Oral lesions: may appear lichenoid, erythema and ulcerations may be present, often nonspecific (similar app to LP)
 palate, buccal mucosa, lips, gingiva

45
Q

dif?

A

erosive LP
CCLE
SLE

46
Q

Lupus erythematosus
 Clinical features (CCLE):
 systemic signs or symptoms
 Lesions limited?
 Skin lesion?
 Oral lesion?

A

 Few or no systemic signs or symptoms
 Lesions limited to skin or mucosal surfaces
 Skin lesion: scaly, erythematous patches (sun-exposed skin)
 Oral lesions: lichenoid appearance (like LP), Rarely occur in absence of skin lesions

47
Q

Lupus erythematosus
 Diagnosis:

A

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

48
Q

Lupus erythematosus tx
 Avoid?
 Mild cases may be managed with?
 Severe cases
 Prognosis depends on?

A

 Avoid excessive sunlight exposure
 Mild cases may be managed with NSAIDS
 Severe cases: systemic corticosteroids, immunosuppressive medications
 Prognosis depends on organs affected

49
Q
A

Lupus erythematosus

50
Q
A

SLE

51
Q

pt has malar rash

A

SLE

52
Q

Angioedema
 def
 involves?
 MC cause:
 Ig involved?
 Alternative mechanism:

A

 Diffuse, edematous swelling of soft tissue
 involves subcutaneous and submucosal connective tissue
 MC cause: mast cell degranulation → histamine release
 IgE-mediated hypersensitivity (drugs, foods, plants, dusts)
 Alternative mechanism: ACE inhibitors (0.1 – 0.2%) due to Excess bradykinin

53
Q

Angioedema
 Clinical features:
 MC where?
 ACE-inhibitor associated angioedema: frequently affects where?
race?

A

 Rapid onset of soft, nontender tissue swelling
 MC in extremities, also face, neck, trunk, genitals
 ACE-inhibitor associated angioedema: frequently affects H&N (Face, lips, tongue, FOM, pharynx, larynx)
 3-4x Black patients

54
Q

Angioedema
 Diagnosis:

A

 Clinical presentation and determination of antigenic stimulus

55
Q

Angioedema tx

A

Allergic: oral antihistamine therapy
 ACE-inhibitor: avoid all medications in drug class

56
Q

pt began using captopril for HTN

A

angioedema

57
Q
A

angioedema of the lips

58
Q

dif?

A

erosive LP
CCLE
SLE