Epidermolysis bullosa simplex with muscular dystrophy (EBSMD) is a rare clinical entity characterized by childhood onset of progressive muscular dystrophy and blistering skin changes. It is caused by homozygous or compound heterozygous mutations in the plectin gene (PLEC). Genetic defects have been reported in a limited number of patients. The precise phenotype-genotype correlations have yet to be defined. Here we describe two affected sisters with detailed clinical presentation, exam findings including timed motor function tests, MRI images and results, and confirmed novel PLEC compound heterozygous mutations.

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