SAM Syndrome Presenting With Pulmonary Stenosis: A Case Report and Literature Review

ABSTRACT Severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome is a rare genetic disorder that can arise due to mutations in the desmoglein 1 ( DSG1 ) gene and sometimes in the desmoplakin ( DSP ) gene and is characterized by an autosomal recessive inheritance pattern. Severe dermatitis in most cases is treatment resistant and usually starts in the early postnatal period. Herein, we report a 5‐month‐old male with SAM syndrome that had a homozygous missense variant in exon 8 of the DSG1 gene with c.909G>C (p.Trp303Cys) and presented with pulmonary stenosis—a rare associated finding.