777 SAM syndrome is characterized by extensive phenotype heterogeneity

Desmogleins are trans-membranal proteins traditionally considered to play a critical role in the maintenance of cell-cell adhesion in the epidermis. Severe skin dermatitis, multiple allergies and metabolic wasting (SAM) syndrome is a rare and usually inherited condition caused by bi-allelic mutations in DSG1 encoding desmoglein 1. The disease was initially reported to manifest with life-threatening erythroderma, failure to thrive, atopic manifestations, recurrent infections, hypotrichosis and palmoplantar keratoderma.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research