SAM syndrome is characterized by extensive phenotypic heterogeneity.
Shahar TaiberLiat SamuelovJanan MohamadEran Cohen BarakOfer SarigStavit Allon ShalevGilles LestringantEli SprecherPublished in: Experimental dermatology (2019)
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.
Keyphrases
- end stage renal disease
- case report
- chronic kidney disease
- ejection fraction
- newly diagnosed
- single cell
- peritoneal dialysis
- magnetic resonance imaging
- prognostic factors
- magnetic resonance
- gene expression
- systematic review
- genome wide
- big data
- machine learning
- computed tomography
- deep learning
- contrast enhanced
- wound healing