Epidermolysis bullosa simplex
Junctional EB
Dystrophic EB
All other things EB
Other blisters
100
TRUE OR FALSE: Most EBS blisters leads to scarring and decreased life span
FALSE
100
What is the most common gene mutation in junctional EB
laminin 332
100
Most common cause of death in patients with recessive dystrophic EB
SCC
100
What is the diagnostic tool we use for EB, which it can precisely pinpoint the level of blister formation within the skin?
transmission electron microscopy
100
What kind of blister is this most likely?
- Tense bullae on lower extremities in patient with history of congestive heart failure and liver cirrhosis
edema blister
200
Where is the blister cleavage typically for EBS
intraepidermal
200
Which part of the basement membrane zone is laminin 332 found?
lamina lucida
200
What is the genetic mutation in dystrophic EB?
COL7A
200
What is beremagene geperpavec (B-VEC)?
A non-replicating COL7A1-containing herpes simplex virus type 1 vector to apply to wounds in RDEB
200
What kind of blister is this most likely?
- blister on feet with ill-fitting shoes with repetitive action
friction blister
300
What are the most common genetic mutations in EBS
Keratin 5 and 14
300
TRUE OR FALSE: The inheritance pattern of most junctional EB is autosomal recessive
TRUE
300
What type of structural protein is type VII collagen?
- Anchoring filament or anchoring fibril
Anchoring fibril
300
What is the technique to induce a fresh blister for biopsy?
Apply firm pressure on intact skin with pencil erase and rotate 180° in each direction 3–10+ times
300
What kind of blister is this most likely?
- Tense bulla on lower extremities with peripheral neuropathy
bullous diabeticorum
400
What genetic mutation leads to EBS with muscular dystrophy?
Plectin
400
What subtype of junctional EB leads to excessive or exuberant granulation tissue?
generalized junctional EB
400
Where is the blister formation in patients with dystrophic EB?
Below the lamina densa
400
What form of EB has blistering, poikiloderma, and photosensitivity?
Kindler EB
400
What populations get exaggerated bullous insect bite responses?
1. Children
2. CLL patients
500
What is the typical morphology of patients with generalized severe EBS?
clusters of herpetiformis blisters
500
What is a unique extracutaneous feature found in all patients with junctional EB?
dental enamel hypolasia
500
What is the term for the formation of a web-like structure between the fingers or toes and which type of dystrophic EB is this often seen in?
pseudosyndactyly and recessive DEB
500
Where is the blister cleavage in Kindler EB?
mixed planes of cleavage
500
What are the classic findings on histopathology in a coma blister?
Subepidermal blister with sweat gland necrosis