Title:Skin Microbial Composition and Genetic Mutation Analysis in Precision
Medicine for Epidermolysis Bullosa
Volume: 25
Issue: 6
关键词:
大疱性表皮松解症，皮肤病，遗传学，宏基因组学，精准医学，生物信息学，微生物组。
摘要: Epidermolysis bullosa (EB) is an inherited skin disease representing a spectrum of rare
genetic disorders. These conditions share the common trait that causes fragile skin, resulting in the
development of blisters and erosions. The inheritance follows an autosomal pattern, and the array
of clinical presentations leads to significant physical suffering, considerable morbidity, and mortality.
Despite EB having no cure, effectively managing EB remains an exceptional challenge due to
its rarity and complexity, occasionally casting a profound impact on the lives of affected individuals.
Considering that EB management requires a multidisciplinary approach, this sometimes
worsens the condition of patients with EB due to inappropriate handling. Thus, more appropriate
and precise treatment management of EB is essentially needed. Advanced technology in medicine
and health comes into the bioinformatics era. Including treatment for skin diseases, omics-based
approaches aim to evaluate and handle better disease management and treatment. In this work, we
review several approaches regarding the implementation of omics-based technology, including genetics,
pathogenic mutation, skin microbiomics, and metagenomics analysis for EB. In addition,
we highlight recent updates on the potential of metagenomics analysis in precision medicine for
EB.
