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19 Cards in this Set
- Front
- Back
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Inheritance and genes of EBS?
Pathogenesis? |
AD; K5 and 14
weakend Keratin intermediate filament and mecahnical fragility with resultant bullae |
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Age and types of EBS:
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Weber-Cockayne: First to third decade
Generalized (Koebner) - birth to early infancy Dowling Mear birth to first month of life |
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Which EBS has herpetiform grouping of lesions?
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Dowling Meara --> widespread bullae
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Nail findings in Dowling Meara
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Dyrstophy with shedding
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Which EBS has EM findings and what are they?
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Dowling Meara
Clumped tonofilaments |
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Which EBS can develop painful calluses?
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Weber-Cockayne
at points of friction |
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The JEBs have what inheritance pattern and what are the types?
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AR;
Herlitz Non-herlitz JEB-pyloric atresia |
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Genes for JEB?
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Herlitz - Lama3, lamb3(80p%), lamc2 --> laminin5
Non herlitz - laminin 5 PA - alpha 6 beta 4 |
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pathogenesis of JEB?
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mutations encoding protieins at the DEJ--> basal cell adhesion to BM is altered --> split in LL
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JEB with periorallly granulation tissue?
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Herltiz variant
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Nail finding in Herlitz
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Absent
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In herlitz, bullae scar or do not?
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Do not scar
Non herlitz heals with atrophic scarring |
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What is the systemic finding found in herlitz patient?
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anemia
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Teeth findings in herlitz?
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dysplastic with enamel defects and erosions of gums
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Dystrophic EB genes?
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Col7A1 --> protein in anchoring fibrils
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Which DEB is more common?
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DDEB
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How do the different phenotypes differ?
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RDEB - HS: premature stop --> lack of anchoring fibrils
RDEB - non HS Missense or frameshift -_> defective anchoring fibrils DDEB - less severe phenotype --> triple helix assembly of type 7 |
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Risk of RDEB patients/
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SCC in scars
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MM findings in RDEB.
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erosions with scarring - pain with eating (malnourished), esophageal strictures, anal erosions, conj erosions , GU scaarring
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