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

Area of Science:

• Genetics
• Dermatology
• Pediatrics

Background:

• Severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome is a rare autosomal recessive genetic disorder.
• Mutations in the desmoglein 1 (DSG1) gene are the primary cause, with desmoplakin (DSP) gene mutations being less common.
• The condition typically manifests in the early postnatal period with treatment-resistant dermatitis.

Observation:

• A 5-month-old male infant presented with clinical features consistent with SAM syndrome.
• Genetic analysis revealed a homozygous missense variant in exon 8 of the DSG1 gene (c.909G>C, p.Trp303Cys).
• The patient also exhibited pulmonary stenosis, a rare clinical finding associated with SAM syndrome.

Findings:

• Identified a novel homozygous missense variant (c.909G>C, p.Trp303Cys) in the DSG1 gene in a patient with SAM syndrome.
• Confirmed the association between this specific DSG1 variant and the severe clinical phenotype.
• Documented pulmonary stenosis as a co-occurring condition in this patient.

Implications:

• This finding expands the mutational spectrum of the DSG1 gene associated with SAM syndrome.
• Highlights the importance of genetic testing for accurate diagnosis and understanding of SAM syndrome.
• Suggests a potential genotype-phenotype correlation, linking DSG1 variants to cardiovascular abnormalities like pulmonary stenosis.