Epidermolysis bullosa in Colombia: 10 years of experience.
DOI:
https://doi.org/10.29176/2590843X.1674Keywords:
Epidermólisis ampollosa, desenlaces, diagnóstico, demografíaAbstract
Objective: to describe the epidemiological, sociodemographic, clinical characteristics and diagnostic methods of patients with a diagnosis of BE, linked to the DEBRA Colombia foundation.
Materials and Methods: An observational, descriptive and retrospective cross-sectional study where the patients evaluated at the DEBRA foundation were characterized in the period 2009-2020.
Results: A total of 104 patients were registered, with a male / female ratio of 1: 1.5, the majority aged between 13 and 18 years at the time of the study. 63.5% of the patients are active at the cut-off date. Of the total number of patients, 98 came from Colombia and 6 patients came from Venezuela. 51.9% belonged to strata 1 and 2 and 14.4% belonged to strata 3 and 4. 34.6% of the patients belonged to the contributory regime and 35.6% to the subsidized regime. In the population studied, 47% of the patients have a diagnosis of DEB, followed by 29.8% EBS. The form of diagnosis is clinical in most cases, with genetic confirmation only in 31.7%, the most frequent mutation was c.6781C> T, p. Arg2261Ter mainly associated with the deficit of COL7A1.
Conclusions: In this review we present 104 patients with BE in Colombia, registered in the DEBRA Colombia foundation. It is the largest number of reported patients, however, it cannot represent the totality of BE patients in the country. The most frequent clinical form was DEB in the study population. Also a third of the analyzed sample had a genetic diagnosis. In addition to skin involvement, the majority of patients present involvement in the oral cavity, hematological digestive tract, nutrition, among others.
Author Biographies
Mauricio Torres-Pradilla, Fundación Universitaria de Ciencias de la Salud
Dermatólogo pediatra, coordinador del posgrado de Dermatología. Fundación Universitaria de Ciencias de la Salud - Hospital de San José de Bogotá.
Mauricio Chaves, Fundación DEBRA Colombia
Epidemiólogo clínico, Fundación DEBRA Colombia.
Elvis Gomez, FUCS
Residente de tercer año de Dermatología. Fundación Universitaria de Ciencias de la Salud - Hospital de San José de Bogotá.
Andrés Villamil, Hospital de San José de Bogotá
Estudiante de Medicina. Fundación Universitaria de Ciencias de la Salud - Hospital de San José de Bogotá
Liliana Consuegra-Bazzani, Fundación DEBRA Colombia
Fundadora y directora, Fundación DEBRA Colombia.
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