Research
Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital
Published

Filaggrin loss-of-function mutations, atopic dermatitis and risk of actinic keratosis: results from two cross-sectional studies

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. The many faces of rosacea: liberal diagnostic criteria have ramifications on disease prevalence and accuracy

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Conjunctivitis in atopic dermatitis patients with and without dupilumab therapy - international eczema council survey and opinion

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Atopic dermatitis and alcohol use - a meta-analysis and systematic review

    Research output: Contribution to journalReviewResearchpeer-review

  1. Gain-of-function mutation in the voltage-gated potassium channel gene KCNQ1 and glucose-stimulated hypoinsulinemia - case report

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Sex-specific estrogen levels and reference intervals from infancy to late adulthood determined by LC-MS/MS

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Copeptin, a surrogate marker for arginine vasopressin secretion, is positively associated with glucagon

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

BACKGROUND: Common loss-of-function mutations in filaggrin gene (FLG) represent a strong genetic risk factor for atopic dermatitis (AD). Homozygous mutation carriers typically display ichthyosis vulgaris (IV) and many have concomitant AD. Previously, homozygous, but not heterozygous, filaggrin gene mutations have been associated with squamous cell carcinomas.

OBJECTIVE: The first objective was to examine the association between FLG mutations and actinic keratosis (AK). The second objective was to investigate the occurrence of AK in patients with IV and AD, respectively.

METHODS: FLG mutation status in patients with AK was compared with controls from the general population. Furthermore, based on nationwide data from Danish registers, we compared the risk of AK in patients with IV, AD and psoriasis, respectively.

RESULTS: The prevalence of homozygous FLG mutations was significantly higher in the AK group (n = 4, 0.8%) in comparison with the control group (n = 18, 0.2%), whereas the prevalence of heterozygous FLG mutations was lower. In hospital registry data, patients with AD exhibited an increased risk of AK than did psoriasis controls (adjusted OR 1.46; [95% CI 1.12-1.90]), whereas no difference in risk was observed between patients with IV and AD.

CONCLUSIONS: This study indicates an increased susceptibility to AK in individuals with homozygous, but not heterozygous, FLG mutations and in patients with AD compared to psoriasis. Whether a reduction or absence of epidermal filaggrin could contribute to the susceptibility to AK in patients with IV and AD is unknown and additional research is needed to further explore this relationship.

Original languageEnglish
JournalJournal of the European Academy of Dermatology and Venereology : JEADV
Volume31
Issue number6
Pages (from-to)1038-1043
Number of pages6
ISSN0926-9959
DOIs
Publication statusPublished - Jun 2017

    Research areas

  • Journal Article

ID: 51733214