EB types

Question 1

onset at birth with significant mucosal involvement (laryngeal/esophageal too) with hoarse voice, PPK, scarring and early death

Answer 1

EBS, Dowling-Meara

EBS Herpetiformis

Question 2

onset in early childhood/adolescence with palmar plantar bullae/erosions that heal without scarring

Answer 2

EBS, weber-cockayne (localized)

Question 3

generalized bullae at birth, PPK, nail dystrophy, mucosal erosions that all heal without scarring

Answer 3

EBS, generalized (Koebner)

Question 4

resembles localized and generalized EBS + reticulated hyperpigmentation over trunk

Answer 4

EBS w/ Mottled Pigmentation

Question 5

Split location in EB simplex vs Junctional EB vs Dystrophic EB

Answer 5

EBS = epidermal basal layer (keratins 5/14)
JEB = BM/lamina lucida (laminin 5 and a6B4 integrin)
DEB = dermal/sublamina dena (type VIII collagen)

Question 6

widespread bullae at birth + muscular dystrophy, scarring, hair/nail/tooth/oral dz, early death

Answer 6

EBS muscular dystrophy

Plectin mut.

Question 7

EBS caused by premature termination codon

Answer 7

Herliz and Recessive DEB (Hallopeau Siemens)

Question 8

caused by mutation in plectin

Answer 8

EBS muscular dystrophy

widespread bullae at birth + muscular dystrophy, scarring, hair/nail/tooth/oral dz, early death

Question 9

severe, widespread bullae with nonhealing exuberant granulation tissue (perioral, axillary, neck), enamel disease, absent nails, mucosal involvement

Answer 9

Herlitz (ED lethalis)

Question 10

widespread bullae at birth that heal with atrophic scars, scarring alopecia, nail dystrophy. Improves with time

Answer 10

Non-Herlitz (generalized atrophic Benign EB or GABEB)

Question 11

severe congenital blistering, hydronephrosis, pyloric atresia, mucosal erosions

Answer 11

JEB with pyloric atresia

Question 12

mutation that causes JEB with pyloric atresia

Answer 12

a4B4 integrin

Question 13

EB a/w increased risk of esophageal SCCs

Answer 13

Hallopeau-Siemens (RDEB) (recessive DEB)

Question 14

EB with white perifollicular papules that slowly enlarge

Answer 14

Pasini varient (DDEB-P)