Unravelling the mystery: severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome with a novel homozygous mutation in DSG1

CLINICAL AND EXPERIMENTAL DERMATOLOGY(2024)

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摘要
We describe a rare case of a patient with severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome with a novel mutation in DSG1 with histology showing a psoriasiform pattern. The article underscores the importance of genetic testing for conclusive diagnosis. Treatment challenges, including unresponsiveness to acitretin and subsequent use of ciclosporin, highlight the need for a multidisciplinary approach in managing SAM syndrome.
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