skin and mucosal dx 1 Flashcards
Ectodermal dysplasia
what fails to develop? examples?
inheritance pattern?
Two or more ectodermally derived structures fail to develop
Hair, skin, nails, teeth, sweat glands, salivary glands
AD, AR, X-linked inheritance
Ectodermal dysplasia
Clinical features of the most common form:
sex?
sweat?
hair?
Salivary glands?
Teeth?
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
ecto dysplasia tx
Genetic counseling, prosthetic appliance
likely dx?
ED
White sponge nevus
Defect in?
inheritance?
mutation?
Defect in the normal keratinization of oral mucosa= hyperkerstosis
AD inheritance
Keratin 4, Keratin 13 mutation
White sponge nevus
Clinical features:
Usually appear when?
app?
MC location?
other locations?
Treatment:
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
likely dx? dif?
white sponge nevus
dif: cheek biting, leukoedema, LP, candidasis
likely? dif?
white sponge nevus
dif: cheek biting, leukoedema, LP, candidasis
white spoong nevus histo
hyperkeratosis and acanthosis at low power and peri-nuclear condensation of keratin tonilfilaments
what is this?
white sponge nevus biopsy: peri-nuclear condensation of keratin tonilfilaments
Ehlers-Danlos syndrome
def
genes involved?
Connective tissue disorder, production of abnormal collagen
Many genes involve
Ehlers-Danlos syndrome
Clinical features: skin, joints, bruising, Gorlin sign?
Type VIII ?
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
Ehlers-Danlos syndrome tx:
depends on?
mild type?
Treatment: Depends on subtype
Mild type: compatible with normal life span
Peutz-Jeghers syndrome
inheritance?
Mutations?
AD inheritance
Mutations in tumor-suppressor gene – STK11
Peutz-Jeghers syndrome
Clinical features:
Pigmented lesions where?
Intestinal?
Increased frequency of?
Intraoral lesions where?
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
Peutz-Jeghers syndrome tx
patients should be monitored for tumor development
likely dx? dif?
preutz jaeger
dif: oral melanotic macules
Epidermolysis bullosa
dx type?
cause?
Defect in?
Mucocutaneous disease, several types
Genetic mutation
Defect in attachment mechanisms of epithelial cells
Epidermolysis bullosa
what can develop from low-grade trauma?
Result in? causing?
forms?
Oral signs?
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
Epidermolysis bullosa bullae structure
Epidermolysis bullosa tx
wound care, antibiotics, surgery
Recommend noncariogenic diet (soft foods), atraumatic oral hygiene procedure
histo of?
Epidermolysis bullosa or pemphigoid
likely?
Epidermolysis bullosa
white sponge nevus
Behçet syndrome (Behçet Disease)
Combination of?
Abnormal process? triggeR?
Genetic predisposition?
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
Behçet syndrome (Behçet Disease)
Clinical features:
MC age?
Increased prevalence in?
Most patients have what oral sign?
Genital lesions?
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
Behçet syndrome (Behçet Disease)
Clinical features:
Vascular?
Cutaneous lesions?
Ocular?
Blindness %?
CNS involvement?
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
Behçet syndrome
(Behçet Disease) tx
may require systemic meds (corticosteroids,
immunosuppressants)
likely? (pt also presents with conjunctivitis/ corneal ulceration)
Behçet syndrome
pt has oral ulcerations and conjuctivitis, likely dx? (35 yo male)
Behçet syndrome
Reactive Arthritis/ Reiter syndrome
Likely an?
Genetic predisposition?
Likely an immunologically mediated disease, triggered by an infectious agent
Genetic predisposition – HLA-B2
Reactive Arthritis/ Reiter syndrome
Clinical features:
Prevalent in?
Triad:
Prevalent in young adult men
Triad:
Urethritis (often first sign)
Arthritis –usually affects joints of lower extremities
Conjunctivitis
Reactive Arthritis/ Reiter syndrome
Clinical features:
Oral? where?
Skin lesions?
Oral: erythematous papules, shallow ulcers (non-specific)
On tongue, buccal mucosa, palate, gingiva
Skin lesions on penis – balanitis circinata: Similar appearance to geographic tongue
Reactive Arthritis/ Reiter syndrome tx
NSAIDS for managing arthritis, corticosteroids, immunosuppressants
young man with urethritis as well
Reactive Arthritis
young male who also has urethrhitis, conjuctivits and joint pain
reactive arthritis
Psoriasis
chronic? % affected?
Increased activity?
factors playing a role?
Prevalence of erythema migrans?
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
Psoriasis Clinical features:
Onset during what ages?
Persists for?
MC on? distribution?
app?
Lesions seasonality?
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
psoarisis tx
topical corticosteroids for moderate involvement
middle aged woman
Psoriasis
likely?
Psoriasis
Lupus erythematosus
mediated by?
Common?
Systemic lupus erythematosus (SLE)
Chronic cutaneous lupus erythematosus (CCLE)
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
Lupus erythematosus
Clinical features: (SLE)
sex?
MC diagnosis decade?
signs/symptoms?
common rash?
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
Lupus erythematosus
Clinical features (SLE):
Kidneys?
Cardiac?
Oral lesions? specific? where?
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
dif?
erosive LP
CCLE
SLE
Lupus erythematosus
Clinical features (CCLE):
systemic signs or symptoms
Lesions limited?
Skin lesion?
Oral lesion?
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
Lupus erythematosus
Diagnosis:
Antibodies directed against double-stranded DNA (70% SLE patients
Lupus erythematosus tx
Avoid?
Mild cases may be managed with?
Severe cases
Prognosis depends on?
Avoid excessive sunlight exposure
Mild cases may be managed with NSAIDS
Severe cases: systemic corticosteroids, immunosuppressive medications
Prognosis depends on organs affected
Lupus erythematosus
SLE
pt has malar rash
SLE
Angioedema
def
involves?
MC cause:
Ig involved?
Alternative mechanism:
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
Angioedema
Clinical features:
MC where?
ACE-inhibitor associated angioedema: frequently affects where?
race?
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
Angioedema
Diagnosis:
Clinical presentation and determination of antigenic stimulus
Angioedema tx
Allergic: oral antihistamine therapy
ACE-inhibitor: avoid all medications in drug class
pt began using captopril for HTN
angioedema
angioedema of the lips
dif?
erosive LP
CCLE
SLE
