Mol Syndromol
. 2025 Apr 2:1-13.
doi: 10.1159/000545533. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/40416445/
Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: A Report of Two Cases and Literature Review
Nagehan Bilgeç 1, Mahmut Gökdemir 2, Özgür Balasar 3, Fayize Maden Bedel 1, Hüseyin Çaksen 1
Affiliations Expand
- PMID: 40416445
- PMCID: PMC12101837
- 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.
Keywords: Congenital heart defects; Focal dermal hypoplasia; Hypertension; PORCN; Pulmonary artery; Wnt signaling pathway.
© 2025 S. Karger AG, Basel.
