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Review Article

Skin Microbial Composition and Genetic Mutation Analysis in Precision Medicine for Epidermolysis Bullosa

Author(s): Inna Syafarina, Maulida Mazaya, Ariani Indrawati, Sharfina Zahra Akbar, Caecilia Sukowati* and Rifki Sadikin

Volume 25, Issue 6, 2024

Published on: 01 April, 2024

Page: [404 - 415] Pages: 12

DOI: 10.2174/0113894501290512240327091531

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Abstract

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.

Keywords: Epidermolysis bullosa, skin disorder, genetics, metagenomics, precision medicine, bioinformatics, microbiome.

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