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Abstract：
BACKGROUND: Epidermolysis bullosa (EB) is a group of rare hereditary diseases, characterized by fragility of the skin and mucous membranes. Epidemiological data on EB in Brazil are scarce.
OBJECTIVE: To describe epidemiological aspects of patients with EB diagnosed in the Dermatology Department of a tertiary hospital, from 2000 to 2022.
METHODS: An observational and retrospective study was conducted through the analysis of medical records. The evaluated data included clinical form, sex, family history, consanguinity, age at diagnosis, current age, time of follow-up, comorbidities, histopathology and immunomapping, presence of EB nevi and squamous cell carcinomas (SCC), cause of and age at death.
RESULTS: Of 309 patients with hereditary EB, 278 were included. The most common type was dystrophic EB (DEB), with 73% (28.4% dominant DEB, 31.7% recessive DEB and 12.9% pruriginous DEB). Other types were junctional EB with 9.4%, EB simplex with 16.5% and Kindler EB with 1.1%. Women accounted for 53% and men for 47% of cases. Family history was found in 35% and consanguinity in 11%. The mean age at diagnosis was 10.8 years and the current age was 26 years. The mean time of follow-up was nine years. Esophageal stenosis affected 14%, dental alterations affected 36%, malnutrition 13% and anemia 29%. During diagnostic investigation, 72.6% underwent histopathological examination and 92% underwent immunomapping. EB nevi were identified in 17%. Nine patients had SCC. Eleven patients died.
CONCLUSIONS: Insufficient data included to medical records, loss to follow-up, and unavailability of genetic testing.
CONCLUSIONS: In this study, dystrophic EB predominated and the need for multidisciplinary care for comorbidities and complications was highlighted.
OBJECTIVE: To describe epidemiological aspects of patients with EB diagnosed in the Dermatology Department of a tertiary hospital, from 2000 to 2022.
METHODS: An observational and retrospective study was conducted through the analysis of medical records. The evaluated data included clinical form, sex, family history, consanguinity, age at diagnosis, current age, time of follow-up, comorbidities, histopathology and immunomapping, presence of EB nevi and squamous cell carcinomas (SCC), cause of and age at death.
RESULTS: Of 309 patients with hereditary EB, 278 were included. The most common type was dystrophic EB (DEB), with 73% (28.4% dominant DEB, 31.7% recessive DEB and 12.9% pruriginous DEB). Other types were junctional EB with 9.4%, EB simplex with 16.5% and Kindler EB with 1.1%. Women accounted for 53% and men for 47% of cases. Family history was found in 35% and consanguinity in 11%. The mean age at diagnosis was 10.8 years and the current age was 26 years. The mean time of follow-up was nine years. Esophageal stenosis affected 14%, dental alterations affected 36%, malnutrition 13% and anemia 29%. During diagnostic investigation, 72.6% underwent histopathological examination and 92% underwent immunomapping. EB nevi were identified in 17%. Nine patients had SCC. Eleven patients died.
CONCLUSIONS: Insufficient data included to medical records, loss to follow-up, and unavailability of genetic testing.
CONCLUSIONS: In this study, dystrophic EB predominated and the need for multidisciplinary care for comorbidities and complications was highlighted.
摘要：
背景：大疱性表皮松解症（EB）是一组罕见的遗传性疾病，以皮肤和粘膜的脆弱性为特征。巴西EB的流行病学数据很少。
目的：描述在三级医院皮肤科确诊的EB患者的流行病学方面，从2000年到2022年。
方法：通过分析病历进行观察性和回顾性研究。评估数据包括临床表格，性别,家族史,血缘,诊断时的年龄，当前年龄,随访时间,合并症,组织病理学和免疫图谱，EB痣和鳞状细胞癌（SCC）的存在，死亡原因和年龄。
结果：在309例遗传性EB患者中，包括278个。最常见的类型是营养不良型EB（DEB），73%(28.4%占主导地位的DEB，31.7%隐性DEB和12.9%瘙痒DEB)。其他类型为交界处EB，为9.4％，EB单工为16.5%，KindlerEB为1.1%。女性占53%，男性占47%。35％的家族史和11％的血缘关系。诊断时的平均年龄为10.8岁，目前的年龄为26岁。平均随访时间为9年。食管狭窄占14%，牙齿改变影响了36%，营养不良13%和贫血29%。在诊断调查期间，72.6％接受了组织病理学检查，92％接受了免疫成像。EB痣占17%。9例患者患有SCC。11名患者死亡。
结论：医疗记录数据不足，后续损失，和基因检测的不可用性。
结论：在这项研究中，营养不良型EB占主导地位,并强调了对合并症和并发症进行多学科护理的必要性.
目的：描述在三级医院皮肤科确诊的EB患者的流行病学方面，从2000年到2022年。
方法：通过分析病历进行观察性和回顾性研究。评估数据包括临床表格，性别,家族史,血缘,诊断时的年龄，当前年龄,随访时间,合并症,组织病理学和免疫图谱，EB痣和鳞状细胞癌（SCC）的存在，死亡原因和年龄。
结果：在309例遗传性EB患者中，包括278个。最常见的类型是营养不良型EB（DEB），73%(28.4%占主导地位的DEB，31.7%隐性DEB和12.9%瘙痒DEB)。其他类型为交界处EB，为9.4％，EB单工为16.5%，KindlerEB为1.1%。女性占53%，男性占47%。35％的家族史和11％的血缘关系。诊断时的平均年龄为10.8岁，目前的年龄为26岁。平均随访时间为9年。食管狭窄占14%，牙齿改变影响了36%，营养不良13%和贫血29%。在诊断调查期间，72.6％接受了组织病理学检查，92％接受了免疫成像。EB痣占17%。9例患者患有SCC。11名患者死亡。
结论：医疗记录数据不足，后续损失，和基因检测的不可用性。
结论：在这项研究中，营养不良型EB占主导地位,并强调了对合并症和并发症进行多学科护理的必要性.
