Spectrum of renal involvement among children with ectodermal dysplasia: a case report and narrative review

Ectodermal dysplasias (EDs) form a heterogeneous group of genetic disorders that affect ectodermal derivatives, variably involving hair, nails, teeth and sweat glands. We recently encountered a 2-year-old child with ED, who was notable for the congenital absence of one kidney. This clinical finding suggested a potentially under-recognized association between ED and renal anomalies. We conducted a comprehensive literature review to investigate renal anomalies within the broader spectrum of ED-associated abnormalities. Reported renal anomalies affected the kidney, ureters and bladder, ranging from congenital nephrotic syndrome and hypoplastic kidneys to vesicoureteral reflux and hydronephrosis. We aimed to consolidate the current understanding of EDs with renal involvement and contribute to developing a refined classification system that integrates genotype-phenotype correlations and facilitates future targeted therapies, emphasizing the importance of a multidisciplinary approach to ED management.