HEREDITARY BLISTERING DISORDERS. others

Question 1

Epidermolysis bullosa simplex (EBS): AD mutations

Answer 1

keratin 5 and 14
intracellular domain of
bullous pemphigoid antigen 2

Question 2

Palmoplantar bullae developing in the 1st-3rd decade

Answer 2

Weber-Cockayne:

Question 3

Widespread bullae (some herpetiform), significant mucous membrane
and laryngeal/esophageal involvement, nail dystrophy, and early death

Answer 3

Dowling-Meara:

Question 4

Generalized bullae starting in infancy with mild mucosal involvement

Answer 4

Generalized (Koebner):

Question 5

EBS with pyloric atresia
EBS with muscular dystrophy:
EBS Ogna variant

Answer 5

Plectin mutation

Question 6

Keratin 5 mutation

Answer 6

EBS with mottle pigmentation

Question 7

Autosomal recessive EBS:

Answer 7

Keratin 14 mutation

Question 8

generalized contusiform

bruising

Answer 8

EBS Ogna variant

Question 9

AR, laminin 5 and bullous pemphigoid antigen 2 (BP180, collagen 17) mutations

Answer 9

Junctional epidermolysis bullosa (JEB):

Question 10

blisters in the lamina lucida

Answer 10

Junctional epidermolysis bullosa (JEB):

Question 11

Generalized bullae, nonhealing perioral granulation
tissue, nail dystrophy, tooth dysplasia (enamel defects), anemia, growth retardation,
tracheobronchial infections. Fatal by age 3-4
mutation?

Answer 11

Herlitz type: Laminin 5 mutations.

Question 12

Non-Herlitz: lifespan

Answer 12

Bullae that heal with atrophic scars, nail

dystrophy, scarring alopecia. Normal

Question 13

JEB localized: mutation

Answer 13

BP 180

Question 14

Generalized atrophic benign epidermolysis bullosa (GABEB): Extensive atrophy
of the anterior lower legs

Answer 14

BP180.

Question 15

Mutations in either subunit of α6-β4 integrin

Answer 15

JEB with pyloric atresia

Question 16

Collagen 7 mutations causing blisters in the sublamina densa

Answer 16

Dystrophic epidermolysis bullosa

Question 17

Non-Herlitz:mutations. ?

Answer 17

Laminin 5 or BP180, b4 integrin

Question 18

Laminin 5. Acral bullae

Answer 18

JEB inversa

Question 19

Congenital localized absence of skin usually of the shins, nail
dystrophy

Answer 19

Bart’s syndrome:

Question 20

• Pretibial
• Pruriginosa
• With subcorneal cleavage (EB “simplex” superficialis)

Answer 20

• Transient bullous dermatosis of newborn

Question 21

Generalized bullae, healing with chronic
scars that develop numerous fatal SCCs, digital fusion with mitten deformity, flexion
contractures, significant mucosal scarring, dysplastic teeth, malnutrition, death

Answer 21

– Recessive dystrophic EB (Hallopeau-Siemens):

Question 22

•Bullae localized to extremities resolving with milia and scarring, mild mucosal involvement, dystrophic nails

Answer 22

Hyperplastic Cockayne-Touraine:

Question 23

• Albopapuloid Pasini variant:

Answer 23

Widespread bullae healing with hypopigmented scar-like

white papules, nail dystrophy, mild mucosal involvement

Question 24

AD, keratins 1 & 10 gene

Answer 24

Epidermolytic hyperkeratosis:

Question 25

Bullae and erythroderma at birth,

generalized verrucous ichthyosis later

Answer 25

Epidermolytic hyperkeratosis:

Question 26

AD, keratin 2e gene. Fragile blisters at birth, hyperkeratotic
plaques on the elbows and knees later

Answer 26

Ichthyosis bullosa of Siemens:

Question 27

AD, calcium ATPase IIC1. Flexural erosions, acantholytic “dilapidated
brick wall” appearance histologically

Answer 27

Hailey-Hailey disease

Question 28

AR, KIND1 (kindlin 1, expressed in basal keratinocytes, attaches actin
cyctoskeleton to extracellular matrix). Acral blistering in infancy, photosensitivity,
progressive poikiloderma, wrinkling (especially dorsal hands/feet), palmoplantar
hyperkeratosis, nail dystrophy, dental caries, phimosis, digital webbing, pseudoainhum

Answer 28

Kindler syndrome