Department of Dermatology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Lübeck Institute for Experimental Dermatology, University of Lübeck, Lübeck, Germany; The Institute for Cardiogenetics, University of Lübeck, Lübeck, Germany.
J Invest Dermatol. 2022 Aug;142(8):2117-2127.e8. doi: 10.1016/j.jid.2022.01.020. Epub 2022 Feb 9.
Recessive dystrophic epidermolysis bullosa is characterized by skin blistering and wounds. To uncover the changes in the skin and mucosal microbiome related to age and disease progression and microbiome impact on clinical and inflammatory laboratory parameters, swabs from wounded and unwounded skin, oral mucosa, and stool samples of 28 children with recessive dystrophic epidermolysis bullosa and 28 healthy controls were subjected to 16S-ribosomal RNA gene sequencing. Skin microbiome of patients with recessive dystrophic epidermolysis bullosa showed significantly reduced alpha diversity compared with that of healthy controls and showed significantly early, age-dependent predominance of Staphylococcus aureus, first in wounded skin and then in unwounded skin. These findings were more pronounced in the severe disease with higher abundances of S. aureus than in intermediate disease. S. aureus abundance correlated significantly with both acute and chronic wound burden. Changes in oral mucosal and gut microbiome were discrete, with no significant differences in alpha diversity. Our findings show that children with recessive dystrophic epidermolysis bullosa experience skin microbiome changes early in life. Longitudinal studies should confirm that dysbiosis starts in wounds and later extends to unwounded skin. The predominance of S. aureus significantly correlates with wound burden and disease activity and, to some extent, with systemic inflammation.
隐性营养不良型大疱性表皮松解症的特征是皮肤起疱和伤口。为了揭示与年龄和疾病进展相关的皮肤和粘膜微生物组变化，以及微生物组对临床和炎症实验室参数的影响，对 28 名隐性营养不良型大疱性表皮松解症患儿和 28 名健康对照者的伤口和未受伤皮肤、口腔粘膜和粪便样本进行了 16S 核糖体 RNA 基因测序。与健康对照组相比，隐性营养不良型大疱性表皮松解症患者的皮肤微生物组多样性明显降低，且金黄色葡萄球菌的优势明显早于年龄依赖性，首先出现在受伤皮肤，然后出现在未受伤皮肤。在疾病严重程度较高、金黄色葡萄球菌丰度较高的情况下，这些发现更为明显。金黄色葡萄球菌的丰度与急性和慢性伤口负担均呈显著相关。口腔粘膜和肠道微生物组的变化是离散的，多样性没有显著差异。我们的研究结果表明，隐性营养不良型大疱性表皮松解症患儿在生命早期就经历了皮肤微生物组的变化。纵向研究应证实菌群失调始于伤口，然后扩展到未受伤的皮肤。金黄色葡萄球菌的优势与伤口负担和疾病活动显著相关，在一定程度上与全身炎症相关。
