blistering disorders

Question 1

Epidermolysis bullosa simplex (EBS)

Answer 1

AD, keratin 5, 14

bullae in basal keratinocytes- multiple subtypes

Question 2

Weber-Cockayne

Answer 2

Type of EBS, AD, keratin 5, 14

palmoplantar, localized

Question 3

Dowling-Meara

Answer 3

Type of EBS, AD, keratin 5, 14

widespread bullae, + mucous inv, +larynx/esophagus, nail dystrophy, early death

Question 4

Koebner sx

Answer 4

generalized EBS, AD, k5/14, mild mucosal inv

Question 5

EBS w/ muscular dystrophy

Answer 5

plectin mutation, AD

Question 6

EBS w/ pyloric atresia

Answer 6

plectin mutation, AD

Question 7

EBS w/ mottled pigmentation

Answer 7

k5 mutation, AD

Question 8

AR EBS

Answer 8

k14 mutation, AD

Question 9

EBS Ogna variant

Answer 9

AD
plectin mutation
EBS w/ contusiform bruising

Question 10

Junctional EB (JEB)

Answer 10

AR, laminin 5, BPAg2 (BP180, collagen 17)
blisters in the lamina lucida
Herlitz, non-Herlitz, JEB localized, Generalized atrophic benign epidermolysis buloosa (GABEB)

Question 11

Herlitz type (JEB)

Answer 11

laminin 5, generalized bullae, perioral granulation, tooth dysplasia (enamel problems), tracheobronchial infections, anemia, growth retardation, fatal by age 3-4

Question 12

Non-Herlitz type JEB

Answer 12

laminin 5=332, BP180, heal w/ atrophic scars, normal lifespan; also b4 integrin

Question 13

JEB localized

Answer 13

BP 180

Question 14

Generalized atrophic benign EB (GABEB)

Answer 14

BP180, extensive atrophy of anterior LE

Question 15

GEB w/ pyloric atresia

Answer 15

a6-b4 integrin

Question 16

JEB inversa

Answer 16

laminin 5, acral bullae

Question 17

Dystrophic EB

Answer 17

collagen 7
Dominant- hyperplastic cockayne touraine, albopapuloid pasini variant, barts syndrome, transient bullous dermatosis of the newborn
Recessive - hallopeau-siemens

Question 18

Hyperplastic Cockayne-Touraine

Answer 18

dominant dystrophic EB, localized to extremities, resolve w/ milia and scarring, dystrophic nails, mild mucosal inv

Question 19

Albopapuloid pasini variant

Answer 19

Dominant dystrophic EB

widespread bullae healing w hypopigmented scar like white papules, nail dystrophy, mild mucosal inv

Question 20

Bart’s syndrome

Answer 20

dominant dystrophic EB, ACC of the shins, nail dystrophy

Question 21

Transient bullous dermatosis of newborn

Answer 21

tranisent form of dominant dystrophic EB, , pretibial, pruriginosa, subcorneal cleavage (EB “simplex” superficialis

Question 22

Recessive dystrophic EB (Hallopeau-Siemens)

Answer 22

generalized bullae, chronic scars, numerous SCCs, digital fusion w/ mitten deformity, flexion contractures, mucosal scarring, dysplastic teeth, malnutrition, death

Question 23

Epidermolytic hyperkeratosis

Answer 23

keratin 1, 10
bullae and erythroderma a tbirth
generalized verrucous icthyosis later

Question 24

icthyosis bullosa of siemens

Answer 24

keratin 2e gene
fragile blisters at birth
hyperkeratotic plaques on elbows and knees later

Question 25

hailey hailey

Answer 25

calcium atpase IIc1, acantholytic

dilapidated brick wall

Question 26

Kindler syndrome

Answer 26

AR
KIND1
acral blistering in infancy
photosensitivity
poikiloderma, progressive
wrinkling esp of dorsal hands/feet
palmoplantar hyperkeratosis
nail dystrphy, dental caries, phimosis, diital webbin, pseudoainum