Filaggrin mutations and Molluscum contagiosum skin infection in patients with atopic dermatitis

Sara Manti, Maria Amorini, Caterina Cuppari, Annamaria Salpietro, Francesca Porcino, Salvatore Leonardi, Michele Miraglia Del Giudice, Gianluigi Marseglia, Davide Paolo Caimmi, Carmelo Salpietro

Research output: Contribution to journalArticlepeer-review


BACKGROUND: Although mutations in the filaggrin (FLG) gene have been reported to predispose patients with atopic dermatitis (AD) skin infection susceptibility, to date, the data reported in the literature are still controversial.

OBJECTIVE: To evaluate the role of FLG polymorphisms expression and risk of developing a concomitant Molluscum contagiosum sustained skin infection in the pediatric population with AD.

METHODS: A total of 100 children with AD and 97 healthy children were enrolled. AD was diagnosed and assessed according to the validated European Task Force on Atopic Dermatitis. DNA samples of patients were analyzed for allelic variants in the promoter and coding exon of FLG. Genotyping was performed with polymerase chain reaction amplification and direct sequencing.

RESULTS: Sixteen 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). In contrast, only 13% of the control group reported FLG mutations (22 heterozygous variants). In addition, the age at disease onset correlated significantly with FLG variants (P < .001). In addition, 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. Finally, the AD group and the AD plus M contagiosum skin infection group had a significant association with FLG mutations when compared with the control group (P < .01).

CONCLUSION: FLG mutations are associated with early onset of AD, more severe clinical course of disease, and a significantly increased risk of M contagiosum sustained skin infection.

Original languageEnglish
Pages (from-to)446-451
Number of pages6
JournalAnnals of Allergy, Asthma and Immunology
Issue number5
Publication statusPublished - Nov 2017


  • Child
  • Child, Preschool
  • Dermatitis, Atopic/genetics
  • European Continental Ancestry Group
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Intermediate Filament Proteins/genetics
  • Male
  • Molluscum Contagiosum/immunology
  • Mutation/genetics
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Skin/immunology


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