Analysis of pediatric mortality due to Epidermolysis Bullosa in Brazil: temporal variations, geographic distribution and implications for health policies

Abstract

INTRODUCTION: Hereditary Epidermolysis Bullosa (EB) is a rare genetic disorder that causes skin fragility and the formation of blisters in response to minimal trauma. The condition has phenotypically distinct types, including simple EB, junctional EB, dystrophic EB, and Kindler syndrome, with heterogeneous clinical presentations ranging from localized to extensive lesions. Patients with EB face complications, as well as emotional and social challenges. Clinical management focuses on controlling lesions and relieving pain, with multidisciplinary follow-up. The 2021 Clinical Protocol and Therapeutic Guidelines (PCDT) aims to improve treatment and the quality of life for patients. The objective was to identify pediatric deaths due to EB in Brazil between 1996 and 2022. METHODS: A descriptive ecological study was conducted using mortality data from ICD-10 Q81, provided by DATASUS, to identify deaths in Brazil between 1996 and 2022, considering geographical regions and age groups. The analysis was carried out in Excel® 2019, with descriptive statistical analysis. RESULTS: Between 1996 and 2022, there were 1,718,544 deaths in the pediatric age group, of which 175 were due to epidermolysis bullosa (EB), representing 0.0000102% of the total. The highest number of deaths occurred between 1996-2000 (40.57%), followed by 2001-2005 (31.43%). After 2006, deaths decreased, with 9.14% recorded between 2006-2010 and 6.29% between 2011-2015. The percentages remained low in 2016-2020 (9.14%) and 2021-2022 (3.43%). The Southeast region had the highest number of deaths (46.9%), and the majority of deaths (87.7%) occurred in children under 1 year old. CONCLUSION: EB presents high mortality, especially in infants, and disparities in access to care. The need for early diagnosis, proper management, and public policies is emphasized, with support from organizations such as DEBRA, to improve the quality of life for patients.