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Flashcards in Genoderms Syndrome Deck (257)
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31

Other name for EB Herpetiformis

Dowling-Maera

32

What finding to do you see on EM in Dowling Maera EBS?

clumped tonofilaments

33

What is the only EBS that is not AD transmitted?

EB with muscular dystrophy (AR) defect in plectin

34

Which two types of EBS heal WITHOUT scarring?

Localized EBS (Weber-Cockayne)
Generalized EBS (Koebner)

35

Where is the split in EBS?

BASAL LAYER

36

Where is the split in Junctional EB?

Lamina Lucida (BMZ)

37

Where is the split in Junctional EB?

Sublamina Densa (Dermal)

38

Type of EB with "exuberant granulation tissue"

Herlitz (EB Lethalis)

39

severe widespread bulla from birth
exuberant granulation tissue
enamel defects
absent nails
early death

Herlitz Junctional EB (EB Lethalis)

40

type of EB which heals with "atrophic scarring"
and
"scarring alopecia"

Non-Herliz Junctional EB (Generalized Atrophic Benign EB)

41

widespread bulla at birth
heals with atrophic scarring
scarring alopecia
nail dystrophy
improves with time

Non-Herlitz Junctional EB (Generalized Atrophic Benign EB)

42

What other physical exam finding does EB with pyloric atresia have?

Hydronephrosis

43

An EB patient gets hydronephrosis. What type EB does he have?

Junctional EB with pyloric atresia

44

An EB pt gets hydronephrosis - what is the gene defect?

alpha-6-beta-4 integrin. This is Junctional EB with pyloric atresia

45

Mode of inheritance for all of the Junctional EBs?

AR

46

Hallopeau-Siemens

Recessive Dystrophic EB

Autosomal Recessive

47

Hallopeau-Siemens inheritance pattern and gene defect:

AR and defect in Collagen Type VII

48

Dystrophic EB split

Dermal - sublamina densa (Collgen Type VII)

49

Name the two AR Dystrophic EB types

Hallopeau-Siemens
Non-Hallopeau Siemens

50

Which dystrophic EB is due to a premature termination codon?

Hallopeau-Siemens

51

Which two types of EB are due to premature stop codons?

Hallopeau-Siemens &
Herlitz (EB Lethalis)

52

severe widespread bulla at birth
heals with atrophic scarring on hands and feet
= "mitten deformity"
milia
nail dystrophy
mucosal strictures
oral, esophageal, cutaneous SCCs

Hallopeau-Siemens Dystrophic EB

53

mitten deformity

Hallopeau-Siemens Dystrophic EB

54

what type of cancers are kids with Hallopeau-Siemens disorder at risk for?

SCCs - Oral, esophageal, cutaneous SCCs

55

where are the skin changes in non-Hallopeau Siemens located?

Less severe form of HS Dystrophic EB with skin changes localized to acral bony prominences

56

Cockayne-Touraine

Dystrophic EB with bullae on extremities, heal with milea, atrophic scars/keloids, nail dystrophy

57

Pasini Varient

Dystrophic EB - like Cockayne-Touraine but with albo-papuloid lesions (white perifollicular papules which slowly enlarge)

58

gene defect in Pasini Variant of EB?

AD
Type VII Collagen

59

"albo-papuloid lesions"

Pasini Variant of EB Dystrophic

60

white perifollicular papules on the hands, sacrum, which slowly enlarge. been there since young childhood

albopapuloid lesions in Pasini variant dystrophic EB (also called dominant dystrophic EB)