Longitudinal Growth in Children With Epidermal Differentiation Disorders

How do longitudinal growth patterns in children with epidermal differentiation disorders (EDDs) vary by genotype? In this registry-based cohort study of 135 individuals with EDDs, early-life growth impairment was genotype-specific: short stature persisted from birth and beyond age 48 months in those with SPINK5 variants, while early growth deficits associated with ABCA12 and KRT10 attenuated by age 2 to 4 years. The study results suggest that children with EDDs are at elevated risk for growth delay, with genotype-specific differences in the severity and persistence, highlighting the importance of individualized monitoring and clinical management.

Corresponding Author: Keith A. Choate, MD, PhD, Yale University School of Medicine, Department of Dermatology, Yale University, PO Box 208059, Room LMP 5040, New Haven, CT 06520 (keith.choate@yale.edu).

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