Rare ectodermal dysplasia present at birth: regarding a case report

João Sousa-Marques, Department of Pediatrics, Centro Hospitalar Tondela-Viseu, Viseu, Portugal
Ana G. Oliveira, Department of Pediatrics, Centro Hospitalar Tondela-Viseu, Viseu, Portugal
Clara Gomes, Department of Pediatrics, Centro Hospitalar Tondela-Viseu, Viseu, Portugal
Sónia Coelho, Department of Dermatology, Centro Hospitalar Tondela-Viseu, Viseu, Portugal
Isabel Andrade, Department of Pediatrics, Centro Hospitalar Tondela-Viseu, Viseu, Portugal

Introduction: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome/Hay-Wells syndrome, is a rare disease, with autosomal dominant transmission, caused by mutations in the TP63 gene, which encodes a developmental transcription factor in the embryonic ectoderm. 70% of cases occur sporadically with no previous family history. It presents at birth and diagnosis is based upon the identification of distinctive signs of a child’s phenotype. Molecular genetic tests confirm the diagnosis if TP63 gene mutation is detected. Case report: The authors describe the case of a newborn that presented at birth with areas of de-epidermization of the scalp, back, and scrotum, erythroderma, nail dystrophy, and posterior cleft palate. Genetic screening showed a heterozygous mutation of the TP63 gene. He is currently two years old, showing good clinical development, and in terms of his psychomotor development, he has a speech/language delay. Discussion: The approach is multidisciplinary and therapy is symptom-guided, correcting the cleft palate/lip, promoting skin barrier integrity, and accelerating the epidermization process. Genetic counseling/psychological support are recommended.

Keywords: Newborn. AEC syndrome. Ectodermal dysplasia. Genetic. Case report.