Researchers herein investigated cases with recessive dystrophic epidermolysis bullosa (RDEB), which is characterized by skin blistering and wounds, in order to reveal the changes in skin and mucosal microbiome related to age and disease progression, and microbiome impact on clinical and inflammatory laboratory parameters.

• 16S-rRNA gene sequencing was performed on swabs obtained from wounded and unwounded skin, oral mucosa and stool samples of 28 children with RDEB and 28 healthy controls.

• Findings revealed significantly reduced alpha diversity in skin microbiome of RDEB patients compared with healthy controls and there was early, age-dependent predominance of Staphylococcus aureus first in wounds, then in unwounded skin.

• Changes in skin microbiome occur early in life in children with RDEB.

• Longitudinal studies may confirm the initiation of dysbiosis in wounds and its later extension to unwounded skin.

• The predominance of Staphylococcus aureus was identified to be significantly linked with wound burden and disease activity, and to some extent with systemic inflammation.