A National Epidemiological Study of Inherited Ichthyoses in England from 1998-2024

Area of Science:

• Dermatology and Genetic Medicine
• Public Health and Epidemiology
• Rare Diseases Research

Background:

• Ichthyoses are a group of genetic skin disorders associated with significant morbidity and mortality.
• Existing epidemiological data lack comprehensive linkage between ichthyosis diagnoses and systemic comorbidities.
• Understanding the national burden of ichthyoses is crucial for effective healthcare provision and research.

Purpose of the Study:

• To present epidemiological data on inherited ichthyoses in England.
• To detail patient-level comorbidities and genetic testing status within this cohort.
• To establish a baseline for future research and healthcare planning.

Main Methods:

• A national retrospective cohort study utilizing English healthcare databases (1998-2024).
• Identification of ichthyosis cases via ICD-10 codes.
• Extraction of demographic, comorbidity, genetic testing, and mortality data from routine NHS records.

Main Results:

• Identified 4330 ichthyosis patients, with 3758 classified as rare ichthyoses (prevalence 51.6/million).
• Rare ichthyoses cohort showed increased prevalence of asthma, inflammatory arthropathies, and atrial fibrillation compared to the general population.
• Significantly higher mortality before age 25 (18.5%) and lower rates of genetic testing (56% of tested cases had identified pathogenic variants).

Conclusions:

• Patients with rare ichthyoses experience a broader spectrum of comorbidities, indicating a substantial systemic burden.
• The findings underscore the need for improved healthcare planning and research design.
• Data highlight inequities in care and the importance of genetic testing for diagnosis and management.