Epidermolysis bullosa in Argentina
first epidemiological study with a focus on ocular manifestations
DOI:
https://doi.org/10.70313/2718.7446.v18.n3.435Keywords:
epidermolysis bullosa, epidemiology, rare diseases, ocular manifestations, ArgentinaAbstract
Objective
To describe the epidemiology of epidermolysis bullosa (EB) in Argentina, its geographical distribution, and the frequency of ophthalmic manifestations, assessing their impact on patients’ quality of life.
Methods
A cross-sectional observational study was conducted using a nationwide digital questionnaire distributed between October 2023 and March 2024. Eligible participants were patients with a clinical diagnosis of EB, or their caregivers, who provided informed consent. The questionnaire collected demographic data, EB subtype and inheritance, access to genetic testing, dermatological treatments, ocular complications, and perceived visual impact on daily life.
Results
Data from 84 patients were analyzed (mean age: 18.4 years; 52% male). Most cases were concentrated in Buenos Aires Province, followed by Córdoba and Santa Fe. The most frequent subtype was dystrophic EB (n=40), followed by simple EB (n=17). Twenty-six percent lacked access to genetic diagnosis. Ophthalmic complications requiring urgent care occurred in 16.5% of cases, most commonly corneal ulcers and ocular surface lesions. Among these, 39% reported decreased visual acuity compared with 8% among those without urgent ocular events. Overall, 31% reported some degree of visual impairment affecting daily activities.
Conclusion
This is the first nationwide epidemiological characterization of EB in Argentina, revealing disparities in access to genetic diagnosis and specialized ophthalmic care. The findings highlight the need for standardized multidisciplinary follow-up protocols and support the creation of a national registry integrating clinical and molecular data to improve patient care and foster research in rare diseases.
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