CHILDREN with epidermal differentiation disorders (EDDs) experienced early growth impairment that varied according to genotype, with children carrying SPINK5 variants showing persistent reductions in height and weight beyond 2 years of age.
The longitudinal cohort study evaluated growth patterns among 135 individuals with confirmed EDDs, using registry-based data and paediatric growth measurements collected through age 18 years. The findings suggest that growth monitoring may be particularly important for children with genotypes associated with persistent impairment.
Researchers analysed participants recruited through the National Registry for Ichthyosis between June 2022 and June 2025. Growth outcomes were assessed against US Centers for Disease Control and Prevention and World Health Organization paediatric growth standards.
During the first 24 months of life, mean weight and height were below the population median: weight was at the 31.4th percentile (P<0.001), while height was at the 39.0th percentile (P=0.02). However, these differences were no longer statistically significant after this period.
The analysis included five genotype-based EDD groups, allowing researchers to assess whether growth trajectories differed according to the underlying genetic variant.
Growth impairment varied substantially between genotypes. Children with SPINK5 variants continued to demonstrate reduced growth between 25 and 48 months, with weight at the 17.7th percentile (P=0.002) and height at the 6.8th percentile (P<0.001).
In contrast, early growth deficits observed among individuals with ABCA12 and KRT10 variants attenuated over time and were no longer statistically significant.
These findings suggest that the severity and persistence of growth impairment in EDDs may depend on genotype, rather than following a uniform trajectory across affected children.
The researchers concluded that growth impairment in EDDs was most prominent during the earliest months of life and varied according to genotype.
The findings support routine monitoring of height and weight in children with EDDs, with particular attention warranted for those carrying high-risk genotypes such as SPINK5. Individualised clinical management may help identify persistent growth delays and inform ongoing care.
Reference
Echeandia-Francis c et al. Longitudinal growth in children with epidermal differentiation disorders. JAMA Dermatol. 2026;DOI:10.1001/jamadermatol.2026.3782.
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