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Genodermatoses.Epidermolysis Bullosa

Terms in this set (33)

I.Epidermolysis Bullosa SIMPLEX (Intra-epidermal) "SLPs Look Good Getting A Migratory Motion Down Paul's Oesophagus"
a) Suprabasal, EBS
1) Superficialis AD
2) Lethal acantholytic AR Desmoplakin
3) Plakophilin 1 deficiency AR Plakophilin 1
4) Lethal congenital EBS - Acantholytic epidermal dysplasia AR Plakoglobin

b)Basal, EBS
1) Localized (Weber-Cockayne) AD 12q 17q Keratin 5, 14
2) Generalized- Dowling Meara AD 12q, 17q Keratin 5, 14
3) Generalized other (Koebner)(Non-Dowling Meara) AD Keratin 5, 14
4) Autosomal Recessive AR 17q Keratin 14
Dystonin (BPAG1)
5) Migratory Circinate AD Keratin 5, frameshift mutation
6) Mottled pigmentation AD Keratin 5
7) Muscular Dystrophy AR Plectin
8) Pyloric Atresia AR
9) Ogna AD ?Plectin

II. Junctional Epidermolysis Bullosa (Intra-lamina lucida)
a) Herlitz AR Laminin 332 (Lam 5)
b) Non-Herlitz "LG PILL"
1) Localized AR Collagen XVII (BPAG2)
2) Generalized (previous hemidesmosomal GABEB) Laminin 332
Collagen XVII (BPAG2)
3) Pyloric Atresia 64 integrin
4) Inverse Lam 332
5) Late onset (EB progressiva) ?Lam 332
6) LOC syndrome (laryngo-onycho-cutaneous or shabbir's syndrome) Laminin 332, α3 subunit

III. Dystrophic Epidermolysis Bullosa (Sub-lamina Densa)

a) Dominant Dystrophic Epidermolysis Bullosa (DDEB) "GAPPN +N
- Generalized = (Pasini) = (Cockayne-Touraine) AD Col VII
1) Acral
2) Pre-tibial
3) Pruriginosa
4) Bullous dermolysis of the newborn
5) Nail
b) Recessive Dystrophic Epidermolysis Bullosa (RDEB) "SGAPPN +IC"
1) Severe generalized (Hallopeau-Siemens) AR Col VII
2) Generalized, other
(Non-Hallopeau-Siemens)
3) Acral
4) Pre-tibial
5) Pruriginosa
6) Bullous dermolysis of the newborn
7) Inversa
8) Centripitalis

IV. Kindler Syndrome - Mixed levels of skin cleavage
KindleR AR FERMT1 (KIND1) Kindlin 1