This gene has been known to be associated with intermediate junctional epidermolysis bullosa-4 (JEB4, OMIM #619787) in autosomal recessive inheritance but is also associated with epithelial recurrent erosion dystrophy (OMIM #122400) in autosomal dominant inheritance [9,10]. The gene discussed is COL17A1; the disease is epithelial recurrent erosion dystrophy.