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A case report of severe dermatitis, allergies, and metabolic wasting (SAM syndrome)
Andrea Rodríguez Tejero1,2, Jesús Tercedor Sánchez1,2,3, Trinidad Montero Vilchez1,2
1Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain.
Abstract:
The presence of eczema and elevated IgE in pediatric patients does not always indicate atopic dermatitis. Rare genodermatoses may share this clinical presentation and should be considered in the differential diagnosis for patients with congenital immunodeficiency and severe refractory dermatitis. We describe a case of severe dermatitis, allergies, and metabolic wasting syndrome, due to a novel mutation in DSG1 gene, an additional example of this uncommon genetic disorder of desmosome function.
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