Filaggrin gene loss-of-function mutations constitute a factor in patients with multiple contact allergies

Youssef Elhaji, Denis Sasseville, Melanie Pratt, Yuka Asai, Kara Matheson, W. H. Irwin McLean, Peter Hull (Lead / Corresponding author)

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)
212 Downloads (Pure)


BACKGROUND: Polysensitivity is defined as three or more positive patch test reactions. The role of filaggrin gene (FLG) loss-of-function mutations in patients with polysensitivity has not been studied when barrier bypass and possible preceding barrier damage have been excluded.

OBJECTIVES: To determine whether FLG loss of function mutations play a role in patients with multiple contact sensitivities when barrier bypass is excluded.

METHODS: One hundred and sixty-nine patients with three or more, non-cross-reacting, positive patch test reactions were prospectively enrolled in this study. Exclusion criteria were a history of hand dermatitis, nickel and metal implants, and stasis dermatitis. Subjects were patch tested with the North American extended patch test series, and with other relevant haptens. DNA was obtained and sequenced for the following FLG loss-of-function mutations: R501X, 2282del4, R2447X, and S3247X.

RESULTS: One hundred and sixty-five patients were genotyped for the four FLG mutations. There was a significant association between R501X mutation and polysensitivity. For the other three tested mutations, there were no significant associations with polysensitivity. When all mutations were combined, there was a significant association between loss-of-function FLG mutations and polysensitivity in patients with a history of atopic dermatitis.

CONCLUSION: When skin barrier bypass is excluded, there is a significant association between polysensitivity and FLG loss-of-function mutations.

Original languageEnglish
Pages (from-to)354-358
Number of pages5
JournalContact Dermatitis
Issue number6
Early online date14 Mar 2019
Publication statusPublished - Jun 2019


  • contact dermatitis
  • filaggrin
  • loss-of-function mutations
  • polysensitivity, skin barrier

ASJC Scopus subject areas

  • Immunology and Allergy
  • Dermatology


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