Características epidemiológicas, fenotípicas y moleculares de un grupo de pacientes con Epidermólisis bullosa en Colombia desde el 2009 hasta 2018
Thesis
Introduction: Epidermolysis bullosa (EB) refers to a group of mechanobulous genodermatoses, with epithelial characteristics of fragility or superficial tissues, being more notable in the skin. The prevalence and incidence per million live births are approximately 19.6 and 8.22 respectively in the United States of America. In Colombia there are currently no epidemiological data available to date. The purpose of this study was to characterize demographically, phenotypically and genotypically the patients with BE belonging to the heart of crystal foundation in Colombia. Methods: Observational, descriptive, case series, retrospective study. The population is made up of all subjects belonging to the Corazón de Cristal Foundation in Colombia between 2009-2018 with a diagnosis of BE, 17 patients were included. No sample size calculation or sampling process was performed, in order to include all the subjects defined as cases. Results: The average age of was 12 years. 100% presented mutations at the level of Collagen 7 and 52.9% presented the subtype of dystrophic EB. 100% presented digestive manifestations. No cases associated with squamous cell carcinoma were identified. 100% of the cases had a biopsy and none had a genetic study. Conclusions: The entire sample has the mutation for COL 7, the most observed subtype being dystrophic. All patients had skin involvement and extra-cutaneous manifestations, the digestive tract being the most frequent. No cases associated with squamous cell carcinoma were found. 100% of the cases had a biopsy, and none had a genetic study.
publication date
August 19, 2021 4:51 PM
Research
keywords
Analysis of congenital skin diseases
Dystrophic Epidermolysis Bullosa in Colombia
Epidermolysis bullosa (EB) as an orphan disease in Colombia
Epidermolysis bullosa or bullosa (EB) epidemiological characterization in Colombia
Genetic disorders associated with blistering of the skin
