TOPLINE

Children with epidermal differentiation disorders (EDDs) had lower weight and height percentiles in the first 24 months, while SPINK5 variants were linked to persistent height deficits.

METHODOLOGY

• Researchers collected registry and pediatric growth data of135 individuals with confirmed EDDs and 26 unaffected siblings from June 2022 through June 2025; the data were analyzed in September 2025.
• Of all, 45.9% of participants were female; 65.9% were White and 9.6% were Asian individuals.
• Five genotype-based groups, including SPINK5-syndromic EDD (sEDD), were included in the analysis.
• Growth measurements from birth through age 18 were standardized using US Centers for Disease Control and Prevention (CDC) and World Health Organization (WHO) pediatric growth references.
• Growth was tracked against population norms across three age intervals: 0-24, 25-48, and more than 48 months, using linear mixed-effects models to account for repeated measurements.

TAKEAWAY

• During the first 24 months, mean weight and height were below the population median, at the 31.4th (P < .001) and 39.0th (P = .02) percentiles, respectively, but no differences were seen at 25-48 or at more than 48 months; head circumference tracked in line with typical population values.
• Children with SPINK5-sEDD had persistent growth impairment, with weight at the 17.7th percentile and height at the 6.8th percentile from 25 to 48 months; with no catch-up growth through age 18 years.
• Early growth deficits associated with ABCA12 and KRT10 variants were no longer significant after age 24 months, whereas no significant growth deficits were identified in children with STS-sEDD across childhood.
• Nutritional supplementation was not associated with improved weight or height trajectories; interpretation was limited because supplementation was more common among children with greater clinical needs and the intervention group was small and heterogeneous.

IN PRACTICE

"Given the lifelong implications of early growth failure, children with EDDs should undergo routine longitudinal growth monitoring and multidisciplinary management involving dermatology and nutrition," the authors wrote. 

SOURCE

The study was led by Caroline Echeandia-Francis, BA, Yale University School of Medicine, New Haven. It was published online on September 30 in JAMA Dermatology.

LIMITATIONS

The limitations included retrospective growth data with inconsistent documentation, small sample sizes of several genotype groups, potential selection bias from registry self-referral, and reliance on self-reported nutritional interventions. The biological basis for genotype-specific growth patterns could not be determined.

DISCLOSURES

The study was funded in part by the National Institutes of Health. Two authors received fellowship support from Yale University School of Medicine and the Pediatric Dermatology Research Alliance. One author reported receiving grants and nonfinancial support from AbbVie, Janssen, BioCryst, and Resvita outside the submitted work, no other disclosures were reported.

This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.