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Article

SAM syndrome is characterized by extensive phenotypic heterogeneity.

Experimental dermatology - 1 Jul 2018

Taiber Shahar, Samuelov Liat, Mohamad Janan, Barak Eran Cohen, Sarig Ofer, Shalev Stavit Allon, Lestringant Gilles, Sprecher Eli

Abstract excerpt

Severe skin dermatitis, multiple allergies and metabolic wasting (SAM) syndrome is a rare life-threatening inherited condition caused by bi-allelic mutations in DSG1 encoding desmoglein 1. The disease was initially reported to manifest with severe erythroderma, failure to thrive, atopic manifestations, recurrent infections, hypotrichosis and palmoplantar keratoderma. We present 3 new cases of SAM syndrome in 2...

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Source

Identifiers

PMID: 29604126
DOI: 10.1111/exd.13551

Genes

DSG1

Provenance

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SAM syndrome is characterized by extensive phenotypic heterogeneity.PMID 29604126Read ↗

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Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.Semantic proximity Read ↗

[Homozygous desmoglein 1 gene mutations and severe dermatitis, multiple allergies and metabolic wasting (SAM syndrome)].Semantic proximity Read ↗

Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome.Semantic proximity Read ↗

Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting).Semantic proximity Read ↗

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