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
