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