OBJECTIVES: Epidermolysis bullosa (EB) is a heterogeneous group of hereditary diseases characterized by varying degrees of skin and mucosa fragility caused by autosomal recessive mutations that affect skin structural proteins. Its prevalence in Colombia and most Latin American countries is unknown. Under the leadership of the Ministry of Health a rare disease registry has been developed, we used it to study age, gender and geographic distribution of the disease.

METHODS: We collected information from SISPRO for years 2018 to 2022 for all patients registered under ICD-10 codes Q810 EB simplex; Q811 EB letalis; Q812 EB dystrophica; Q818 other EB; and Q819 EB, unspecified, organized by gender, age and place of residence. For geographic distribution, Colombia was divided in 5 Regions: Amazon (6 departments), Andes (10 departments and the Capital District), Caribbean (8 departments), Orinoco (4 departments) and Pacific (4 departments). Five-year prevalence was estimated per million inhabitants.

RESULTS: 1774 patients (females 1070, 60.3%) were registered with EB over the period for an unadjusted prevalence of 34.1 per million, with great regional differences. The Caribbean, representing 21.8% of the Colombian population, had 1185 patients (66.8% of the total). The overall prevalence per million in each region was: Amazon 15.2, Andes 15.4, Caribbean 98.1, Orinoco 11.8 and Pacific 17.7. The highest prevalence rates were in Córdoba (175.0 per million), Atlántico (124.8), and Sucre (108.1), all located in the Caribbean region. EB letalis, the most severe form of the disease, represented 16.5% of all cases in the Caribbean but only 2.2% in the rest of the country.

CONCLUSIONS: The Colombian Caribbean might hold one of the highest prevalance rates and most serious disease profiles of this rare life-threatening disorder. Genetic studies as well as other epidemiologic studies are needed to better explain the reasons for this high concentration of cases.