32 - Epidermolysis Bullosa Flashcards
Major gene mutations in EB
Keratins 5 and 14
EB simplex
Major gene mutations in EB
Plectin
EBS with muscular dystrophy
Major gene mutations in EB
Laminin 332
Junctional EB-
generalized severe
Major gene mutations in EB
BP180
JEB-generalized intermediate
Major gene mutations in EB
α6β4 integrin
Junctional EB- (intra-lamina lucida) with pyloric atresia
*b4 integrin subunit Ab leads to ocular MMP
Major gene mutations in EB
Collagen 7
Dominant & Recessive DEB
Dystrophic EB- sublamina densa
What’s are the EBS gene defects?
Usually AD: KRT5, KRT14,
Kelch-like protein 24,
Plectin (EBS with Muscular dystrophy)
EBS -plectin / α6β4 integrin (Pyloric dystrophy)*
AR inheritence: BP230, exophilin 5
Suprabasal EBS: transglutaminase 5, plakophilin-1, plakoglobin, desmoplakin
*Less common than JEB α6β4 integrin with Pyloric dystrophy
What’s are the Junctional EB gene defects?
Usually AR heredity
Laminin 332- JEB-generalized severe
BP180- JEB-generalized intermediate
α6β4 integrin- JEB with pyloric atresia*
laminin α3 subunit - laryngo-onycho-cutaneous
integrin α3 chain- JEB with kidney and pulmonary involvement
*More common than EBS α6β4 integrin with Pyloric dystrophy
HELPFUL CUTANEOUS FINDINGS IN PATIENTS WITH EB
Primary involvement of the palms and soles
EBS, localized
HELPFUL CUTANEOUS FINDINGS IN PATIENTS WITH EB
Primary involvement of axillae and groin
JEB, inversa subtype;
recessive dystrophic EB, inversa subtype
HELPFUL CUTANEOUS FINDINGS IN PATIENTS WITH EB
Grouped or “herpetiform” blisters, sometimes in a figurate array
EBS, generalized severe
HELPFUL CUTANEOUS FINDINGS IN PATIENTS WITH EB
Reticulated hyperpigmentation
EBS
with mottled pigmentation
HELPFUL CUTANEOUS FINDINGS IN PATIENTS WITH EB
Excessive or exuberant granulation tissue, e.g. periorificial, axillae, neck, upper back
JEB, generalized severe
HELPFUL CUTANEOUS FINDINGS IN PATIENTS WITH EB
Confluent palmoplantar keratoderma
EBS, generalized severe
HELPFUL CUTANEOUS FINDINGS IN PATIENTS WITH EB
Prurigo-like nodules coalescing into linear plaques on the shins
DEB, pruriginosa
