A General Pediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
February 2025
in “
Journal of Paediatrics and Child Health
”
Studysummary In this case report, a late preterm male infant presented with a pathogenic TP63 gene variant, consistent with Rapp-Hodgkin Syndrome, showing symptoms such as ichthyosiform erythroderma, cleft palate, and ankyloblepharon, highlighting the complex management and diagnostic challenges in such cases.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
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.
