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Review
. 2025 May-Jun;42(3):584-590.
doi: 10.1111/pde.15811. Epub 2024 Dec 7.

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

Batuhan Kerem Balan  1 , Sibel Ersoy-Evans  1 , Emel Isıyel  2 , Dursun Alehan  3
Affiliations
Review

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

Batuhan Kerem Balan et al. Pediatr Dermatol. 2025 May-Jun.

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.

Keywords: DSG1; allergies; dermatitis; genetic mutation; metabolic wasting; pediatric cardiology; pulmonary stenosis; severe dermatitis.

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References

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    1. L. Samuelov, O. Sarig, R. M. Harmon, et al., “Desmoglein 1 Deficiency Results in Severe Dermatitis, Multiple Allergies and Metabolic Wasting,” Nature Genetics 45, no. 10 (2013): 1244–1248.
    1. M. A. McAleer, E. Pohler, F. J. Smith, et al., “Severe Dermatitis, Multiple Allergies, and Metabolic Wasting Syndrome Caused by a Novel Mutation in the N‐Terminal Plakin Domain of Desmoplakin,” Journal of Allergy and Clinical Immunology 136, no. 5 (2015): 1268–1276.
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