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Filaggrin‐gene mutation has minimal effect on the disease severity in the lesions of atopic dermatitis

The Journal of Dermatology Aug 04, 2021

Ota M, Sasaki T, Ebihara T, et al. - This study’s findings demonstrate that the activation of Th2-dominant inflammatory cells, together with filaggrin (FLG) abnormality, plays a role in suppressing the production of FLG in skin lesions.

  • Researchers assessed the effects of loss-of-function mutations of the FLG gene on the severity of skin lesions and skin barrier function in 55 patients with atopic dermatitis (AD) by evaluating eight patients with AD with FLG gene mutations and 47 patients with AD without mutations.

  • The outcomes demonstrated that the FLG gene mutation did not affect the duration of AD, severity of AD, degree of local inflammatory symptoms, skin water content, and trans-epidermal water loss of the lesions.

  • Stratum corneum was collected from the three sites of skin lesions using the tape-stripping method in these eight mutation carriers and the 47 non-carriers, and the amounts of FLG protein and total amino acid contained in the stratum corneum was assessed to evaluate the effect of the FLG gene mutation on the amount of FLG gene product in the local lesion.

  • They observed that FLG abnormalities had little effect on FLG protein and total amino acid content in the stratum corneum in the lesional skin.

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