A General Pediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report

This case report details the management of a late preterm male infant diagnosed with Rapp-Hodgkin Syndrome (RHS), a rare ectodermal dysplasia syndrome caused by a pathogenic variant in the TP63 gene. The infant presented with erythroderma, ankyloblepharon, cleft palate, syndactyly, hypoplastic nails, and renal cysts. Management challenges included significant fluid losses, temperature instability, and risk of infection. Treatment involved liberal use of emollients, bleach baths, and topical antibiotics. Surgical interventions were planned for cleft palate and syndactyly. The report highlights the importance of genetic analysis in diagnosing ectodermal dysplasia syndromes and suggests that RHS and AEC syndrome may represent variable expressions of a single genetic disorder. Emerging therapies, such as PRIMA-1MET/APR-246, show promise in improving skin erosions in these conditions.