Nagehan Bilgeça, Mahmut Gökdemirb, Özgür Balasar, Fayize Maden Bedela, Hüseyin Çaksen
Necmettin Erbakan University. Başkent University. Konya City Hospital.
Turkey
Molecular Syndromology
Mol Syndromol 2025;
DOI: 10.1159/000545533
Abstract
Introduction: Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is an exceedingly rare multisystemic disease with X-linked dominant inheritance involving meso-ectodermal tissues. FDH is characterized by specific cutaneous lesions, ectodermal findings, craniofacial abnormalities, ocular malformations, and limb deformities. Congenital diaphragmatic hernia, urinary anomalies, heart anomalies, lung defects, or central nervous system malformations rarely accompany it.
Case presentation: We report 2 patients with focal dermal hypoplasia with concurrent cardiac findings and PORCN variants. In the first case, hemitruncus, an aortic arch, severe isthmus hypoplasia, and pulmonary arterial hypertension were observed. In the second case, a secundum-type atrial septal defect was observed.
Conclusion: Genotype-phenotype correlations are limited in the literature. We aimed to establish the genotype-phenotype relationship of the novel variants detected and better understand the correlation between the clinical features of focal dermal hypoplasia and the Wnt signaling mechanism.
Category
Class I. Pulmonary Hypertension Associated with Congenital Cardiovascular Disease
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access Free PDF File or Full Text Article Available Through PubMed or DOI: Yes