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- Intraepidermal blister formation as a consequence of cytolysis of basal keratinocytes (epidermolytic blisters)
- Blistering can occur in a localized ( mostly hands and feet) or generalized fashion
- Blistering can start in the neonatal period or early childhood, in mild cases even in later years
- Healing usually occurs without scarring or skin atrophy.
- Palmoplantar keratoses and hyperhidrosis are common during the course of the disease.
- Hair and teeth are usually normal, nail changes can occur
- Generally a mild progression can be seen, severe disease is rare (e.g. EBS-DM, EBS-MD)
- Diagnosis
- Immunofluorescence mapping: intraepidermal blister formation, with hemidesmosome markers on the base of the blister
- Electron microscopy: intracellular cytolysis above the hemidesmosomes in the basal keratinocytes
- Genetics: mostly autosomal dominantly inherited keratin mutations
Subtypes
- EBS basal localized (previously called EBS Weber Cockayne)
- EBS basal Dowling-Meara (EBS-DM)
- EBS basal generalized other (previously classified as EBS Koebner)
- EBS basal autosomal recessive (EBS-AR)
- EBS basal with muscular dystrophy (EBS-MD)
- EBS basal with mottled pigmentation (EBS-MP)
- EBS basal with pyloric atresia (EBS-PA)
- EBS suprabasal lethal acantholytic
- EBS suprabasal Plakophilin deficiency
© 2006 Netzwerk Epidermolysis bullosa