[HTML][HTML] Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin
MA McAleer, E Pohler, FJD Smith, NJ Wilson… - Journal of Allergy and …, 2015 - Elsevier
Background Severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome is
a recently recognized syndrome caused by mutations in the desmoglein 1 gene (DSG1). To
date, only 3 families have been reported. Objective We studied a new case of SAM
syndrome known to have no mutations in DSG1 to detail the clinical, histopathologic,
immunofluorescent, and ultrastructural phenotype and to identify the underlying molecular
mechanisms in this rare genodermatosis. Methods Histopathologic, electron microscopy …
a recently recognized syndrome caused by mutations in the desmoglein 1 gene (DSG1). To
date, only 3 families have been reported. Objective We studied a new case of SAM
syndrome known to have no mutations in DSG1 to detail the clinical, histopathologic,
immunofluorescent, and ultrastructural phenotype and to identify the underlying molecular
mechanisms in this rare genodermatosis. Methods Histopathologic, electron microscopy …