SAM syndrome is characterized by extensive phenotypic heterogeneity

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

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 families and review the cases published so far. Whole exome and direct sequencing were used to identify SAM syndrome-causing mutations. Consistent with previous data, SAM syndrome was found in all 3 patients to result from homozygous mutations in DSG1 predicted to result in premature termination of translation. In contrast, as compared with patients previously reported, the present cases were found to display a wide range of clinical presentations of variable degrees of severity. The present data emphasize the fact that SAM syndrome is characterized by extensive phenotypic heterogeneity, suggesting the existence of potent modifier traits.

Original languageEnglish
Pages (from-to)787-790
Number of pages4
JournalExperimental Dermatology
Volume27
Issue number7
DOIs
StatePublished - Jul 2018

Keywords

  • DSG1
  • SAM syndrome
  • dermatitis
  • desmoglein 1
  • genodermatosis

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