Growth impairment in epidermal differentiation disorders varies by genotype

This longitudinal registry-based cohort study followed 135 children and young adults with epidermal differentiation disorders (EDDs), along with 26 unaffected siblings, tracking height, weight, and head circumference against CDC/WHO growth standards. The study found that weight and height were below the 50th percentile in the first 24 months of life overall, with no significant difference from population norms thereafter; however, individuals with SPINK5 variants showed persistent deficits at 25-48 months, while early deficits linked to ABCA12 and KRT10 variants attenuated and became non-significant over time. The authors state that growth impairment in EDDs depends on genotype and is most prominent in early infancy, and suggest routine growth monitoring, particularly for high-risk genotypes such as SPINK5.

Most relevant for: Children with genetically confirmed epidermal differentiation disorders, particularly those with SPINK5 variants (Netherton syndrome) or ABCA12/KRT10 variants, during infancy and early childhood.

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