Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: A Report of Two Cases and Literature Review.

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 def

SUBMITTER: Bilgec N 

PROVIDER: S-EPMC12101837 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature