Epidermolysis Bullosa An Insider's Perspective to a Rare Genetic Connective Tissue Disorder
Epidermolysis Bullosa An Insider's Perspective to a Rare Genetic Connective Tissue Disorder
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DOI：
10.1097/jdn.0000000000000188
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发表时间：
2016-01-01
影响因子：
0.4
通讯作者：
Bodan, Rebecca Cross
中科院分区：
文献类型：
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作者：
Bodan, Rebecca Cross
大疱性表皮病（EB）是一组罕见的遗传性结缔组织疾病，通常在出生时或婴儿早期出现。大多数情况下的主要表现是轻微创伤引起的水泡和皮肤糜烂。对于患者来说，遇到提供者对病情的了解不超过教科书，这可能是一种具有挑战性的经历;考虑到EB的罕见性，这并不是一种罕见的经历。对日常斗争的更深入了解可能会让我们更深入地了解儿科医疗保健社区可以为那些忍受照顾这种罕见遗传疾病儿童的困难和斗争的家庭提供更多支持性服务的领域。本文将阐述一位医疗保健提供者的经验，他的女儿出生时患有严重的EB单纯症，并为改善患者和家庭的最佳实践提供建议。
Epidermolysis bullosa (EB) is a group of rare, genetic connective tissue disorders that typically presents itself at birth or in early infancy. The primary manifestation for most with the condition involves blisters and skin erosions in response to mild trauma. For patients, it can be a challenging experience to encounter providers with no more than textbook knowledge about the condition; given the rarity of EB, this is not an uncommon experience. A greater understanding of the day-to-day struggles may give more insight into areas where the pediatric healthcare community can provide more supportive services to families enduring the hardships and struggles of caring for a child with this rare genetic condition. This article will expound on the experience of one healthcare provider whose daughter was born with a severe form of EB simplex and provide recommendations for improving best practices for patients and families.