This genetic association study re-examined a prior case report originally diagnosed as persistent neonatal pemphigus, evaluating whether the condition was autoimmune or genetic in origin, specifically investigating a homozygous pathogenic missense variant in *DSG3* (desmoglein-3) as the cause of acantholytic blistering of the oroesophageal mucosa.
The study reclassified the prior case of persistent neonatal pemphigus as genetic rather than autoimmune in origin, attributing the oroesophageal acantholytic blistering to a homozygous *DSG3* pathogenic missense variant.
Only an abstract is publicly available due to a publication embargo; full text is not accessible until September 2027. Sample size and detailed clinical data cannot be assessed. Study appears limited to a single case or very small cohort, restricting generalizability.
In neonates or infants presenting with persistent mucosal blistering resembling pemphigus, consider genetic testing for *DSG3* variants before attributing disease to autoimmune mechanisms. A genetic etiology has fundamentally different treatment and counseling implications than autoimmune pemphigus.
