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

OpenAlex İngilizce

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.