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Dermatology (Fitzpatrick 8th Ed) > Chapter 62 Inherited EB > Flashcards

Chapter 62 Inherited EB Flashcards

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1
Q

keratin ___ and ___ assembles to form filament network of basal cell cytoskeleton

A

keratin 5 and 14

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2
Q

____ localizes to region referred to as inner plate on cytoplasmic surface of hemidesmosome and like plectin, functions in connection between hemidesmosomes and intermediate filaments

A

BP230

if negative –> mechanical fragility

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3
Q

collagen XVII also termed ___

A

BPAG2 / BP180

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4
Q

specific receptor for laminin 332

A

a6B4 - central role in organization of hemidesmosome

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5
Q

collagen XVII associates w/ laminin 332 and a6B4 integrin in adhesion structures termed

A

stable anchoring contacts

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6
Q

autoantigen in linear IgA bullous dermatosis

A

LAD-1

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7
Q

collagen XVII undergoes processing in keratinocyte cultures and in skin through action of

A

sheddases - membrane associated proteases that solubilizes cell surface receptors

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8
Q

major constituent of anchoring fibrils

A

collagen VII

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9
Q

collagen VII binds to the ___ chain on laminin 332

A

B3 chain

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10
Q

gold standard for diagnostic grouping of EB

A

electron microscopy

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11
Q

most severe of EBS subtypes, Dowling-Meara EBS - onset, manifestation?

A 
at birth
generalized 
oral mucosa more often involved (differ from Koebner)
millium formation 
grouped or hepetiform blisters
without scarring 
trunk, proximal extremities 
dystrophy of long nails 
hyperkeratosis of palms and soles  (early childhood)
flexural contractures
esophageal involvement to pyloric atresia 
natal teeth
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12
Q

Generalized / Koebner EBS

A

at birth or early infancy
generalized
hands, feet, extremities - most involvement
post inflammatory hypo or hyperpigmentation
atrophy and milia - less frequent
palmoplantar hyperkeratosis, erosions
thickening of soles - later childhood
oral mucosa - mild erosive, improve with age

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13
Q

mildest, most common form of EBS, Localized EBS ?

A 
infancy and childhood
mild enough to escape reporting
hyperhidrosis  of palms, soles
post inflamm pigmentary alteration
follows trauma; hands and feet common; scalp least 
milia
scarring absent
nail rare
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14
Q

EBS of Ogna ?

A 
infancy
summer
acral 
without scarring
Norway
onychogryphosis of great toenails
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15
Q

EBS with muscular dystrophy

A 
at birth or shortly thereafter
generalized 
progressive muscular dystrophy
generalized 
HD1/plectin mutation
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16
Q

EBS w/ mottled pigmentation

A

at birth or early infancy
trunk, proximal extremities
reticular, increase w/ age
progressive pigmentation

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17
Q

EBS superficialis

A 
subcorneal
erosions, crusts 
post inflammatory pigmentary changes
nail
atrophic scarring
milia
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18
Q

lethal acantholytic EBS

A 
rare recessive
at birth
generalized
dystrophic to absent nails
complete alopecia
neonatal teeth
oral erosions
respiratory involvement
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19
Q

ectodermal dysplasia skin fragility syndrome

A 
suprabasilar
at birth
generalized 
alopecia 
palmoplantar keratoderma
painful fissures 
nail dystrophy
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20
Q

which mutation coding for the most highly conserved regions of keratin ___ and ____ correlate w/ dowling meara

A

K5 and 14

milder forms, weber-cockayne codes for regions that are less conserved

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21
Q

mutations in EBS w/ mottled pigmentation

A

amino terminus of K5 (globular head domain responsible for keratin filament insertion to melanosomes)

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22
Q

mutations w/ EBS w/ muscular dystrophy

A

lack of expression or defective expression of plectin

disorganization of muscle sarcomeres

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23
Q

unique case of recessive dominant EBS associated w/ null mutations of_____ gene coding for BP230/BPAG1

A

dystonin

blistering w/ neuropathy

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24
Q

molecular defect of ectodermal dysplasia skin fragility syndrome - loss of function of desmosomal protein ______, encoded by PKP1

A

plakophilin 1

suprabasilar keratinocytes and outer root sheath cells

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25
Q

All JEB share common histopathologic feature of blister formation within _____ of BMZ

A

lamina lucida

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26
Q

Herlitz JEB ?

A
  • generalized at birth
  • later infancy - periorificial granulation tissue (mouth, eyes, nares)
  • dystrophic nails or often lost during infancy
  • tooth enamel pitting
  • erosions of all stratified sq epithelial tissues (nasal, conjunctival, esophageal, tracheal, laryngeal, rectal, urethral)
  • tracheolaryngeal stenosis or obstruction - horseness in early infancy is ominous sign
  • failure to thrive, growth retardation
  • mixed anemia, sepsis (common lethal)
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27
Q

Non-Herlitz JEB?

A
  • survive infancy, clinically improve w/ age
  • severity of blistering, oral erosions less than in lethal form
  • lack of hoarseness (favorable prognostic sign)
  • most common in childhood: scalp, nail lesions, periorificial nonhealing erosions w/ granulation tissue
28
Q

laryngo-onycho-cutaneous syndrome ?

A
  • mutations of laminin a3 (LAMA3) gene

- triad of cutaneous erosions, nail dystrophy, mucocutaneous granulation (conjunctiva, larynx)

29
Q

Generalized atrophic benign EB (GABEB) ?

A 
at birth
generalized
relative paucity of oral erosions
enamel pitting, extensive dental caries
nail dystrophy
atrophic scarring
normal lifespan
blistering improves w/ age 
progressive alopecia of scalp, body (after puberty onset)
30
Q

Localized JEB ?

A 
hands feet pretibial regions
dystrophic nails, can be shed
enamel pitting
oral or nasal erosions
absence of any internal involvement
favorable prognosis
31
Q

JEB w/ pyloric atresia ?

A 
extreme mucosal and cutaneous fragility
urological abnormalities
hydronephrosis, nephritis
rudimentary ears
a6B4 integrin mutations
32
Q

complete lack of expression of laminin 332

A

Herlitz

33
Q

reduced expression of laminin 332

A

non-Herlitz

34
Q

blistering occurs in lamina lucida region abnormalities of hemidesmosomes/anchoring filaments

A

GABEB

majority have abnormalities of collagen XVII/BP180

35
Q

mutation in localized JEB

A

COL17A1

36
Q

Localized DDEB ?

A 
at birth, not appreciated until childhood
repetitively traumatized areas (knees sacrum acra )
hypertrophic scarring 
milia 
nail dystrophy or loss 
oral and teeth - not common
good prognosis
normal lifespan
37
Q

Generalized DDEB?

A 
Pasini subtype of DDEB
at birth
widespread more severe blistering
heal w/ scarring plaques, milia
scar like flesh colored papules on trunk 
localize to extremities (get older)
dystrophic/absent nails 
oral elsions

Bullous epidermolysis of NB - rare variant, gradually recedes after infancy

38
Q

localized Recessive DEB

A

repetitively traumatized skin, often acral
scarring and milium
mild mucosal

39
Q

severe RDEB / Hallopeau-Siemens ?

A 
at birth
generalized 
congenital absence of skin (Bart's syndrome)
progressive scarring 
pseudosyndactyly ("mitten" of skin)
flexion contracture
NO periorificial (compare to severe JEB)
scalp - most commonly affected 
progressive alopecia
oropharynx - limit tongue movement and narrows opening of oral cavity
loss of teeth
narrowing of airway - tracheostomy
esophageal strictures and webbing
can survive to teens/adult
SCC (50-80%) - extremely aggressive
40
Q

blister cleavage in all dystrophic EB

A

sublamina densa

41
Q

DEB associated with mutations coding for

A

COL7A1

42
Q

EB pruriginosa ?

A

subtype of DEB
increased pruritus
glycine mutation

43
Q

Kindler syndrome - decreased expression of

A

kindlin-1

mutation of KIND1

44
Q

Kindler syndrome ?

A 
at birth, infancy
EB like trauma induced blisters 
blister subsides in later childhood
progressive poikiloderma to sun exposed areas 
photosensitivity
nail changes
webbing of toes and fingers 
oral inflammation
esophageal or ureteral strictures 
ectropion

reduplication of basement membrane
sublamina densa split

45
Q

findings of TEM and IDIF in EBS and DDEB?

A

IDIF - No detectable loss of antigens

TEM - keratin filament clumping or anchofing filament abnormalities

46
Q

findings of TEM and IDIF in recessive disease?

A

IDIF - loss of individual components of hemidesmosomes

TEM - can not distinguish

47
Q

how to biopsy EB patients

A

10% of punch covers blister

90% covers intact skin

48
Q

TEM findings in
dowling meara EBS
JEB
DEB

A

dowling meara EBS - clumping of keratin intermediate filaments in basal keratinocyte cytoplasm
JEB - rudimentary hemidesmosome
DEB - absent or altered anchoring fibrils

49
Q

IDDF microscopy findings in
EBS
JEB
DEB

A

EBS - BP230, lamina densa protein coll Type IV on FLOOR
JEB - BP230 on roof, type IV on floor
DEB - coll VII, BP230 on roof

50
Q

lack of staining with antibodies specific to laminin 332 support ____ diagnosis

A

JEB

51
Q

lack of staining with collagen VII support ____ diagnosis

A

DEB

52
Q

absence of staining for collagen XVII support _____ diagnosis

A

non-herlitz JEB / GABEB

53
Q

prenatal diagnosis of EB

A

CVS at 8-10 weeks

amniocentesis at 2nd trimester

54
Q

controlling exposure to heat prove helpful in ____

A

EBS

55
Q

mitten pseudosyndactyly in _____ variant are in most need of surgical intervention

A

HS-RDEB

56
Q

average survival rate after Dx of RDEB associated SCC is

A

5 years

57
Q

often used to control local spread of carcinomas on limbs

A

amputation

58
Q

chemoprevention of SCC

A

isotretinoin

59
Q

treatment for advanced metastatic disease in RDEB

A

cetuximab

EGFR antagonist

60
Q

esophageal lesions in _____ and _______

A

RDEB
JEB (Herlitz, non-herlitz)

respond to dilatation
colonic interposition in advanced cases
gastrostomy tube insertion for nutrition

61
Q

eye leions of
dowling meara subtype
JEB and RDEB
DEB

A

dowling meara subtype - inflammation of eyelid
JEB and RDEB - corneal ulceration w/ scarring, obliteration of tear ducts, eyelid lesions
DEB - cicatricial conjunctivitis

corneal ulcerations (antibiotic ointments, cycloplegic agents to reduce cilicary spasms)

62
Q

enamel defects in JEB and DEB lead to _____

A

dental caries

63
Q

nutritional problems in EB

A

low selenium
iron overload
chronic anemia

predisposing to CHF, cardiomyopathy

64
Q

greatest overall threat to nutritional well being

A

orpharyngeal and gastrointestinal lesions

65
Q

_______ can certainly affect all severe EB subtypes

A

anemia of chronic disease

not responsive to oral supplementation
parenteral iron
recombinant EPO
transfusion for rapid correction

66
Q

deficient vitamin D, zinc, osteoporosis noted in

A

RDEB

Dermatology (Fitzpatrick 8th Ed) (25 decks)

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