Manti S, et al. – In this study, the role of filaggrin (FLG) polymorphisms expression and risk of developing a concomitant Molluscum contagiosum sustained skin infection were evaluated in the pediatric population with atopic dermatitis (AD). The results of this study showed that FLG mutations were related to early onset of AD, more severe clinical course of the disease, and a significantly increased risk of M contagiosum sustained skin infection.

Methods

• For the purpose of this study, 100 children with AD and 97 healthy children were enlisted.
• According to the validated European Task Force on Atopic Dermatitis, AD was diagnosed and assessed.
• After that, DNA samples of patients were analyzed for allelic variants in the promoter and coding exon of FLG.
• Finally, genotyping was performed with polymerase chain reaction amplification and direct sequencing.

Results

• According to the findings obtained, 16 FLG variants have been detected in 29% of patients with AD: 2 synonymous (rs79808464 and rs116222149), 12 missense (rs11584340, rs113136594, rs145828067, rs374910442, rs747005144, rs145627745, rs144209313, rs74129443, rs192455877, rs150957860, rs138055273, rs147472105), 1 stop gained (rs183942200), and 1 frameshift (rs 558269137).
• Conversely, just 13% of the control group reported FLGmutations (22 heterozygous variants).
• The age at disease onset associated significantly with FLGvariants (P < .001).
• Furthermore, the AD with FLG gene variants (rs145627745, rs79808464, rs150957860, rs145828067, rs747005144, rs374910442, rs138055273, rs183942200, rs11584340, and rs113136594) reported moderate to severe Scoring Atopic Dermatitis scores.
• The results of this study revealed that the AD group and the AD plus M contagiosum skin infection group had a significant relationship with FLG mutations when compared with the control group (P < .01).