Juliette Mazereeuw-Hautier

This comparative case–control study aimed to evaluate the incidence of keratoconus and other ophthalmological abnormalities in patients with epidermal differentiation disorders (EDDs; formerly known as congenital ichthyoses) compared with controls. Included in the study were 72 patients with EDDs and 72 sex-matched controls. Keratoconus rates were similar between groups, but other ocular complications, including corneal anomalies, dry eye, eyelid abnormalities, ocular symptoms, low visual acuity and reduced vision-related quality of life, were significantly more frequent in patients with EDDs.

This study analyzed social media posts from patients with congenital ichthyosis and their caregivers across Europe and found that users, primarily young women, discussed hygiene care, psychological impact, therapeutic challenges, and lack of disease awareness. This allowed for the identification of unmet needs and potential actions to improve patients’ quality of life.

Background: New primary preventive therapeutic strategies for atopic dermatitis (AD) are needed. Atopic diseases are associated with disrupted gut microbial balance in early life, suggesting that optimizing microflora through intervention could improve health. Prebiotics, which are immunomodulatory sugars, promote gut microbiota diversity. Most clinical trials focus on improving postnatal infant gut colonization, but prenatal life is crucial for establishing tolerance mechanisms. Preclinical studies indicate that maternal intake of galacto-oligosaccharide (GOS)/inulin prebiotics decreases the risk of food allergy in offspring. Objectives: To determine whether antenatal prebiotic intake prevents AD in children at high risk of atopy. Methods: The multicentre double-blind randomized PREGRALL clinical trial ran from February 2018 to April 2023 (ClinicalTrials.gov NCT03183440). The follow-up period extended from 20 weeks of amenorrhoea in pregnant women to their infants reaching 1 year of age. Women with a physician-diagnosed history of atopy (asthma, allergic rhinitis, AD or food allergy) were selected for inclusion. The women were randomized to daily prebiotic GOS/inulin (n = 188) or placebo (maltodextrin; n = 188 participants) intake from 20 weeks’ gestation until delivery. The first outcome was the occurrence of AD at 1 year in children at risk of the disease. Secondary endpoints included AD severity, quality of life, prebiotic tolerance and the prevalence of other atopic diseases. Results: Of 376 pregnant women included in the trial, prebiotic supplementation did not prevent AD at 1 year (intention-to-treat population odds ratio 1.01, 95% confidence interval 0.59–1.74; P = 0.97) or reduce disease severity in their children. Subgroup analyses by breastfeeding status or delivery mode revealed no differences. No effects on allergen sensitization or food allergies were found. Conclusions: We found no evidence that maternal intervention with prebiotics protects against AD at 1 year of age in infants at risk of allergic diseases.

UNSTRUCTURED Rare skin diseases require complex multidisciplinary care, and the potential of telemedicine to optimize their management remains insufficiently explored. In this monocentric, prospective randomized study, patients were assigned to standard care or telemedicine-enhanced care, with subgroup analysis based on referring physician participation. Telemedicine did not reduce hospital visits overall, likely due to limited physician engagement, but complete participation was associated with significant changes in care organization, including more direct hospitalizations and increased coordination workload. These findings suggest that while telemedicine alone may not decrease visit frequency, it supports a more structured care model, highlighting the importance of physician engagement and the potential added value of tele-expertise networks and artificial intelligence.

Reply to ‘Proposing an immune-inclusive lens to the new epidermal differentiation disorders classification’ by Mahajan et al.