[Epidermolysis bullosa. An update].

[kindler syndrome]

Epidermolysis bullosa (EB ) represents a group of diseases characterized by skin fragility usually developing blisters after minimal trauma . The clinical picture ranges from mild subtypes with minor skin reactions to severe forms with lethal outcome within the first months of life . In the severe generalized subtypes , complications such as aggressive squamous cell carcinoma of the skin , anemia , esophageal stenosis and cardiomyopathy can occur so that multidisciplinary patient care is necessary . EB can be divided in four types--EB simplex (EBS ), junctional EB (JEB ), dystrophic EB (DEB ) and Kindler syndrome . All together 33 subtypes can be distinguished . In 2008 a revised EB classification was introduced . Several eponyms for EB subtypes were replaced by descriptive names . The review presents the EB subtypes based on the new EB classification system , the molecular background and new therapeutic options .

Diseases
Validation

Diseases presenting "severe forms" symptom

classical phenylketonuria

congenital adrenal hyperplasia

congenital toxoplasmosis

cystinuria

dentin dysplasia

dentinogenesis imperfecta

dystrophic epidermolysis bullosa

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

omenn syndrome

primary hyperoxaluria type 1

pyomyositis

severe combined immunodeficiency

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