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Eisner, Mark D, Blyth, Maisie, Broughan, Jennifer M, Mallinson, Corinne, Paley, Lizz, Aston, Jeanette, Vernon, Sally, Hardy, Steven, Ahmed, Shehnaz, Aldwin-Easton, Mandy, Lashin, Shaimaa, Fordham, Julia, Moss, Celia, Lovgren, Marie-Louise, O’Toole, Edel A, Venables, Zoe C 
ORCID: https://orcid.org/0000-0002-9929-2693 and Rajan, Neil
(2026)
A National Epidemiological Study of Inherited Ichthyoses in England from 1998-2024.
British Journal of Dermatology.
ISSN 0007-0963
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Abstract
Background: Ichthyoses cause significant morbidity and mortality, however national epidemiological data that link diagnoses of ichthyoses with systemic comorbidities are lacking. Objective: Report epidemiological data on inherited ichthyoses in England, together with patient level comorbidities and genetic testing status. Methods: This national retrospective cohort study identified ichthyosis case records from healthcare databases in England, using ICD-10 codes from 1998-2024. Cohort demographics, comorbidities, genetic testing data, and mortality data were extracted from routinely collected NHS data. Results: We identified 4330 ichthyosis patients, of which 3758 were categorised as having a rare ichthyosis. Prevalence of the rare ichthyoses was 51.6 per million [95% CI 49.7–53.5]. Compared to the reference population, the overall cohort was younger (median age 22 (interquartile range 38) vs. 41 years), more likely to identify as Asian (17.1% vs 9.6%, P < 0.001), and more frequently in the most deprived quintiles (48.1% vs 40%, P < 0.001). Rates of comorbidities including asthma, inflammatory arthropathies and atrial fibrillation were higher than in the reference population. 18.5% of deaths occurred before 25 years of age compared with 1% of deaths at this age threshold in the reference population (P < 0.001). Genetic testing data revealed a low proportion of tested cases; pathogenic variants in genes known to cause ichthyosis were found in 90 (56%) of the 160 tested cases. Conclusions: We report an increased range of comorbidities in patients living with rare ichthyoses, highlighting the systemic burden in patients categorised as having non-syndromic ichthyosis. These data inform healthcare planning, research design and the redressing of inequities of care.
| Item Type: | Article |
|---|---|
| Related URLs: | |
| Depositing User: | LivePure Connector |
| Date Deposited: | 21 Aug 2026 10:27 |
| Last Modified: | 23 Aug 2026 05:35 |
| URI: | https://ueaeprints.uea.ac.uk/id/eprint/104292 |
| DOI: | 10.1093/bjd/ljag295 |
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