Clinical and epidemiological characteristics of patients with congenital epidermolysis bullosa confirmed by molecular study. Retrospective study in a pediatric hospital
Keywords:
congenital epidermolysis bullosa, molecular diagnosisAbstract
Introduction: congenital epidermolysis bullosa (EB) can be difficult to differentiate clinically, so molecular study in essential for the diagnosis of certainty.
Objectives: to describe the epidemiological and clinical characteristics of patients with different types of congenital EB confirmed by molecular study. To determine whether the time of onset of the skin lesions correlates with a certain type of EB. To analyze if there is a correlation between the type of EB and the mode of inheritance clinically suspected with the result of the molecular analysis. To number genetic variants that have not been previously reported.
Design: descriptive, retrospective and transversal study.
Materials and methods: Patients with confirmed diagnosis of EB by molecular test that were evaluated at the Dermatology Department of the Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, from August 1988 until July 2019 were included.
Results: of the 57 patients, 45 (79%) were dystrophic EB, 11 (19%) were simplex EB and one (2%) was a Kindler syndrome. In 91% (52 patients), regardless of the EB type, skin lesions started within the first 30 days of life, while in the regarding 9% (5 patients) appeared between the first month and the first year and all of them were dystrophic EB. There was a 91% correlation between the clinical and genetic diagnosis. Seventeen new pathogenic variants have been found.
Conclusions: the clinical manifestations and the pathogenic variants are essential for the definitive diagnosis of the types of EB and the mode of inheritance.
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