Zo voelt het leven als je EB hebt
Subtypes van EB simplex (EBS)
|
Most common EBS clinical subtypes |
Targeted protein(s) |
|
Autosomal dominant EBS |
|
|
Localized |
Keratin 5, keratin 14 |
|
Intermediate |
Keratin 5, keratin 14 |
|
Severe |
Keratin 5, keratin 14 |
|
With mottled pigmentation |
Keratin 5a |
|
Migratory circinate erythema |
Keratin 5 |
|
Intermediate |
Plectin |
|
Intermediate with cardiomyopathy |
Kelch‐like member 24 |
|
Autosomal recessive EBS |
|
|
Intermediate or severe |
Keratin 14, keratin 5 |
|
Intermediate |
Plectin |
|
Localized or intermediate with BP230 deficiency |
Bullous pemphigoid antigen 230 (BP230) (syn. BPAG1e) |
|
Localized or intermediate with exophilin‐5 deficiency |
Exophilin‐5 (syn. Slac2‐b) |
|
Intermediate with muscular dystrophy |
Plectin |
|
Severe with pyloric atresia |
Plectin |
a Typical recurrent mutation in keratin 5, but cases with other keratin 5, keratin 14 or exophilin‐5 mutations have been reported; bold, syndromic EBS subtypes.
