Dermatology · Pediatrics · 8 h ago
Growth Deficits in Children With Epidermal Differentiation Disorders Vary by Genotype
A registry-based longitudinal cohort study included 135 individuals with epidermal differentiation disorders and 26 unaffected siblings. Growth deficits were most evident during the first two years, with persistent low height and weight percentiles at ages 25–48 months among children with SPINK5 variants.
- Growth deficits were most prominent during the first two years.
- SPINK5-associated deficits persisted at ages 25–48 months.
- Early ABCA12- and KRT10-associated deficits attenuated over time.
- Findings support routine, genotype-informed growth monitoring.
A longitudinal cohort study in JAMA Dermatology examined genotype-specific growth patterns in children with epidermal differentiation disorders (EDDs). Investigators used National Registry for Ichthyosis survey data and pediatric growth measurements through age 18 years, collected between June 2022 and June 2025. The cohort included 135 individuals with confirmed EDDs from 129 kindreds and 26 unaffected siblings. Height, weight, and head circumference trajectories were assessed against CDC/WHO growth standards using linear mixed-effects models.
Across EDD participants, mean weight and height during the first 24 months were below the population median: the 31.4th percentile for weight (P<.001) and 39.0th percentile for height (P=.02). Overall differences were not statistically significant thereafter. However, participants with SPINK5 variants had persistent deficits at 25–48 months, with weight at the 17.7th percentile (P=.002) and height at the 6.8th percentile (P<.001). Early deficits associated with ABCA12 and KRT10 variants attenuated over time and were no longer statistically significant.
The findings support routine growth monitoring, particularly in early childhood and for children with SPINK5 variants. The observational, registry-based design does not establish causality or the effectiveness of nutritional interventions. Only the abstract was available; genotype subgroup sizes and head circumference results were not reported in the supplied material.
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JAMA Dermatology: Longitudinal Growth in Children With Epidermal Differentiation Disorders ↗This is an automated AI-condensed summary that has not yet been reviewed by an editor. Always consult the full item at the original source.