International guidelines for the screening of a rare skin condition have changed after scientists found an elevated rate of psychological disorders and heart issues.
Cardiff University researchers have shown that the rare skin condition, X-linked ichthyosis - which is caused by a genetic deletion, is linked to an increased likelihood of being diagnosed with neurodevelopmental and mood disorders. New research by the team has also indicated that carriers of this genetic deletion are at a substantially increased risk of heart rhythm problems, including arrhythmias such as atrial fibrillation.
Dr William Davies, from School of Psychology and School of Medicine at Cardiff University, said: "In 2019, a group of experts published the first European guidelines for the management of congenital ichthyoses - this was following a meeting of multidisciplinary experts to develop the optimal care for the skin condition based on the information available. The guidelines were scheduled to be updated every 5 years to include the treatment advances and new findings."
The Cardiff team's findings were implemented into the latest 2024 International Guidelines of Care for the management of congenital ichthyoses. Due to their research, screening for psychiatric and cardiac abnormalities by dermatologists is now recommended as an integral part of care for the condition.
We are incredibly pleased that our research has been incorporated into the care guidelines for patients with this condition, to ensure that patients with X-linked ichthyosis get the full spectrum of care they need.
Dr Davies added: "Neurodevelopmental and psychiatric conditions can have serious ramifications in terms of the well-being of affected individuals, while arrhythmias predispose to serious medical conditions like heart failure, cardiac arrest, stroke, and cognitive decline or dementia. As such, identifying, monitoring, and intervening to treat or mitigate these conditions at as early a stage as possible should be a priority."
By highlighting these potential issues to medical professionals treating individuals with congenital ichthyoses in the new guidelines, rates of onward referral to appropriate specialties - including psychiatry and cardiology - will hopefully be increased, and patients will promptly receive any additional multidisciplinary care they need.
The team's research, Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank and Characterising heart rhythm abnormalities associated with Xp22.31 deletion , was published in Journal of Medical Genetics.
The update to the guidelines, Management of congenital ichthyoses: guidelines of care: Part two: 2024 update , was published in British Journal of Dermatology.
