Case of a Male Patient With Focal Dermal Hypoplasia (Goltz Syndrome), Esophageal Polyps, Scoliosis, and Bicuspid Aortic Valve
Year: 2025
Type: article
Study design: Case Report
Abstract: Focal dermal hypoplasia (Goltz syndrome) is an extremely rare genetic disorder characterized by specific skin manifestations and a wide range of anomalies affecting the ocular, dental, skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. The syndrome is inherited in an X-linked dominant manner and is usually lethal in males, with adult male survivors representing only about 10% of all reported cases. It has been established that mutations in the PORCN gene (Xp11.23), which encodes proteins with a key role in embryonic development, are responsible for this condition. Diseases associated with PORCN include a spectrum of highly variable multisystem disorders caused by congenital anomalies in mesodermal and ectodermal structures. Craniofacial features may include facial asymmetry, nasal notches (indentations in the nostrils), cleft lip and palate, pointed chin, and small, underdeveloped ears. Dental anomalies include hypodontia (missing teeth), enamel defects, and/or abnormally shaped teeth. Herein, we report a very rare case of a male patient (only up to 10% of male patients with Goltz syndrome survive) with clinically confirmed disease (one major and two minor criteria), admitted with anemia, after severe hematemesis. During the hospital stay, he was diagnosed with polyps of the esophagus and stomach and a bicuspid aortic valve. After clinical evaluation and gastroprotective and antihypertensive treatments, he was discharged with improved condition.
Source: Cureus
DOI: 10.7759/cureus.97595
Authors: Blagovest Stoimenov, Ralitsa Pancheva, Ventsislava Pencheva, Vasil Kolev, Rozita Karakasheva, Dimitar Stoyanov, Maria Stancheva, Radoslava Tsrancheva, Svilen Donev, Diana Petrova, Ventseslav Yordanov, Antonia Vasileva, Georgi Ovnarski, Diyan Genov
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4416564192