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Home Epidermolysis Bullosa Classificatie van EB 1. Classificatie van klassieke epidermolysis bullosa (EB)

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.

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