Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.

[dystrophic epidermolysis bullosa]

Epidermolysis bullosa (EB ) is a rare and so far incurable genetic disease , affecting mainly the skin and mucosal membranes , manifesting with blisters triggered by minor mechanical trauma . Since only few epidemiological data on EB are available , we established a Registry for EB and implemented molecular diagnostic methods .We present epidemiologic data from the EB Registry and genotype-phenotype correlations .In 2006 , a registry of patients with EB was initiated in the Department of Dermatology of the University of Medicine , as well as molecular diagnostic tools . The patients were diagnosed on clinical bases , and whenever possible , immunofluorescence mapping and molecular analysis were performed .89 EB patients were enrolled in the study from 2006 to 2012 : 58 patients with dystrophic EB (DEB ), 20 with EB simplex , one patient was diagnosed with Kindler syndrome ; in 10 patients , the type of EB could not be determined .We have estimated , the total number of EB patients in Romania and we have estimated the incidence and the prevalence of EB . We have also managed to approximate the distribution of EB types in Romania . Moreover , we performed a phenotypic and genotypic characterization in some of the patients included in the EB register .

Diseases
Validation

Diseases presenting "minor mechanical trauma" symptom

dystrophic epidermolysis bullosa

kindler syndrome

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