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FD9 > 60 - Inherited Epidermolysis Bullosa > Flashcards

60 - Inherited Epidermolysis Bullosa Flashcards

1
Q

Blistering level categories in inherited EN

A

Simplex
(Hemidesmosomal)
Junctional
Dystrophic

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2
Q

Major constituent of anchoring fibrils

A

Collagen VII

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3
Q

Traditionally the diagnostic gold standard for grouping EB

A

Electron microscopy

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4
Q

Characterized by intraepidermal blistering and most often id associated with keratin gene mutations

A

EB simplex

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5
Q

Major EBS types

A 
Generalized severe (Dowling-Meara)
Generalized intermediate (Koebner)
Localized (Weber-Cockayne)
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6
Q

Most severe form of the EBS subtypes

A

Generalized severe EBS (Dowling Meara)

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7
Q

Heat exacerbates the blistering in EBS subtypes except

A

Generalized severe EBS (Dowling Meara)

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8
Q

Generalized severe EB differs from the generalized intermediate variant in that the ______ is more often involved

A

Oral mucosa

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9
Q

Most common form of EB

A

Localized EBS (Weber-Cockayne)

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10
Q

Hyperhidrosis of the palms and soles is a common association with

A

Localized EBS (Weber-Cockayne)

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11
Q

Milia and scarring as a rule are absent

A

Localized EBS (Weber-Cockayne)

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12
Q

Blistering activity in localized EBS is most common on the _____ and least common on the _____

A

Hands and feet

Scalp

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13
Q

Seasonal blistering (summer) on the acral areas
Healing occurs without scarring
Characteristic onychogryphosis of the great toenails

A

EBS of Ogna

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14
Q

Generalized blistering of the skin at birth or shorty thereafter
Accompanied by progressive muscular dystrophy

A

EBS with muscular dystrophy

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15
Q

EBS with muscular dystrophy patients have been shown to harbor mutations in the gene coding for

A

HD1/plectin

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16
Q

Characterized by mottled hyperpigmentation of the trunk and proximal extremities with blistering in a generalized distress beginning at birth or early infancy

A

EBS with mottled pigmentation

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17
Q

Named after the subcorneal separation that produces the blisters in this disease
Erosions and crusts, rather than intact bullae m, are usually seen

A

EBS superficialis

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18
Q

Lethal disorder
Characterized by generalized erosions at birth with a very superficial level of separation, which has been described as sheetlike
Alopecia, neonatal teeth, oral erosions, and respiratory involvement distinguish this disorder from other superficial EBS subtypes

A

Acantholytic EBS

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19
Q

Suprabasilar epidermal separation characterized by generalized erosions and sometimes superficial blisters

A

Plakophilin deficiency or ectodermal dysplasia skin fragility syndrome

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20
Q

BP230 deficiency is caused by mutations of the

A

DST-e gene

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21
Q

Has beed described in a small collection of Kuwaiti and Iranian families
Localized, often affecting the feet

A

BP230 deficiency

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22
Q

Exophillin-5 deficiency is caused by mutations of the

A

EXPH5 gene

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23
Q

Trauma-induced crusting or fragile blisters and vesicles

Remission during childhood is characteristic of this disease

A

Exophillin-5 deficiency

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24
Q

Superficial and painless skin peeling most commonly on the hands and feet
Humidity, heat, and water exposure can exacerbate this condition

A

Acral peeling skin syndrome

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25
Q

Level of separation in acral peeling syndrome

A

Between the stratum granulosum and startum corneum

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26
Q

Most of the patients with EBS have been found to be associated with mutations of the genes coding for

A

Keratins 5 and 14

27
Q

Majority of keratin gene mutations associated with EBS are _____ inherited

A

Domintantly

28
Q

Ectodermal dysplasia skin fragility syndrome involves loss-of-function mutations in the _____ gene coding for _____

A

PKP1

Plakophilin 1

29
Q

Plakophilin is expressed mainly in

A

Suprabasilar keratinocytes

Outer root sheath cells

30
Q

Acral peeling skin syndrome is caused by mutations of _____, which produces alterations of _____ expression

A

TGM5

Transglutaminase

31
Q

Blister formation within the lamina lucida of the BMZ

A

Junctional EB

32
Q

Junction EB mode of unheritance

A

Autosomal recessive

33
Q

Principal forms of junctional EB

A 
Generalized severe JEB (previously termed Herlitz disease, JEB gravis, or lethal JEB)
Generalized intermediate JEB (nonlethal JEB or JEB mitis)
Localized JEB (minimus JEB)
34
Q

Most common subtype of JEB

A

Generalized severe JEB

35
Q

Results in lethality during infancy or early adulthood
Distinctive periorificial granulation manifests later during infancy
Involvement of the large airways including tracheolaryngeal stenosis or obstruction
Failure to thrive
Growth retardation
Sepsis

A

Generalized severe JEB

36
Q

Lack of lethality in infancy

Lack of significant hoarseness is regarded as a favorable prognostic sign

A

Generalized intermediate JEB

37
Q

Distinct subset of generalized intermediate JEB
Heal with a characteristic atrophic scarring
Progressive alopecia of the scalp and terminal hairs

A

Generalized atrophic benign EB

38
Q

Characterized by nail dystrophy, cutaneous erosions, and extensive granulation tissue, especially localizing to the conjunctiva and larynx

A

Laryngo-onycho-cutaneous syndrome

39
Q

Characterized by blisters that heal with scarring and milium formation from sublamina densa separation

A

Dystrophic EB

40
Q

DEB mode of inheritance

A

Autosomal recessive or dominant

41
Q

One of the most important reasons to distinguish between recessive or dominant DEB

A

Increased prevalence of invasive SCC associated with the recessive form

42
Q

DEB is derived from defects of the

A

Anchoring fibril

43
Q

Localized autosomal dominant DEB is also called

A

Cockayne-Touraine of DDEB

44
Q

Generalized autosomal dominant DEB is also called

A

Pasini subtype of DDEB

45
Q

Distinguished by the spontaneous appearance of distinctive scarlike, flesh-colored papules on the trunk (albopapuloid lesions)

A

Generalized autosomal dominant DEB

46
Q

Self-remitting generalized DDEB

Biopsy often shows basal epidermal intracytoplasmic accumulations of collagen VII

A

Bullous dermolysis of the newborn

47
Q

Localized recessive DEB is also known as

A

RDEB mitis

48
Q

Severe recessive DEB is also known as

A

Hallopeau-Siemens

49
Q

Congenital absence of the skin

A

Bart syndrome

50
Q

DEB has been shown to be associated in all cases thus far with mutations of the gene coding for

A

collagen VII (COL7A1)

51
Q

EB-like trauma-induced blistering at birth and during infancy, with atrophic changes during healing reminiscent of JEB or DEB

A

Kindler syndrome

52
Q

Most consistent feature seen in Kindler syndrome

A

Reduplication of the basement membrane

53
Q

Y/N: Routine histologic analysis can be used to diagnose EB

A

No - Routine histologic analysis cannot be used to diagnose EB but can be useful for excluding other causes of blistering

54
Q

It is best to place the circular biopsy punch so that only _____% of the punch covers the visible blister with _____% covering intact skin

A

10

90

55
Q

Clumping of keratin intermediate filaments in basal keratinocyte cytoplasm is a pathognomonic finding for

A

Severe generalized (Dowling-Meara) EBS

56
Q

Rudimentary hemidesmosomes can be an important clue to the disgnosis of

A

JEB

57
Q

Absent or altered anchoring fibrils often occur in

A

DEB, especially the recesive forms

58
Q

EB variant most in need of surgical intervention

A

Severe recessive DEB (Hallopeau-Siemens)

60
Q

Has been used for patients with RDEB for chemoprevention of SCC

A

Isotretinoin

61
Q

Patients with EBS, particularly those with the _____ subtype, can experience recurrent inflammation of the eyelid, with bullous lesions in the conjunctivae

A

Dowling-Meara

62
Q

Devastating and potentially fatal complication of severe DEB and JEB that is highly associated with chronic anemia

A

Dilated cardiomyopathy

63
Q

Shown promise in reducing the fibrosis accompanying DEB wounding by reducing transforming growth factor-beta in the skin

A

Losartan

64
Q

Often the most disabling complication found in recessive DEB and JEB of both the severe and intermediate generalized variants

A

Esophageal lesions

FD9 (108 decks)

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