Quiz #1

Question 1

Pemphigus Vulgaris

Answer 1

autoimmune 
IgG reaction against desmoglein 3 and 1 (depends on mucosal or cutanous variant)
flaccid blisters 
positive Nikolsky sign
systemic steriods
also immune therapy 

intraepidermal loss, suprebasilar acantholysis due to loss of cell-cell adhesion

Question 2

Ichthyosis vulgaris

Answer 2

AD
defect in filaggrin – component of keratohyalin granules

fine white scales, sparing flexures
palmar hyperlinearity
improves in summer and with moisturizer
associated with atopic dermatitis, Hodgkins disease, and sarcoidosis

Question 3

X-linked ichthyoisis

Answer 3

XR
males
steroid sulfase deficiency
brown, firmly adherent scales, extensors and posterior necj 
spares flexors and face
waxes and wanes 
not life threatening

Question 4

lamellar ichthyosis

Answer 4

AR
defect in transglutaminase - cross linkage
colloidal baby with translucent membrane large, plate like scales,
severe but normal life span

Question 5

epidermolytic hyperkeratinosis (EHK)

Answer 5

AD (rare)
K1 or K10 mutation
newborn - widespread blisters, erythroderma (can lead to death)
adults get general keratinosis, dark scaly patches

Question 6

Epidermolysis Bullosa

Answer 6

blistering disorder

Subtypes: 
EB Simplex: K5/K15, 
variants:
- Weber Cockyane (milder) - calluses
- Koebner (trauma)
- Dowling-Maera (herpetiform, significant mortaility) 

junctional EB:
- lamanin 5,
clinical variants
–Herlitz: severe, lots of bullae, non-healing, dysplastic teeth, usually fatal by years 3-4
–nonHerlitz: bullea on extremities, missense mutation

Dystrophic:

• dominant and recessive
• type 7 collagen
• different variants, most dealing with lack of anchoring fibrils
• dominant: cmost common, bullae on bony prominnences, nails
• recessive: increased SCC, mitten deformiteis