EBS with Muscular Dystrophy

EBS with Muscular Dystrophy (EBS-MD) is an extremely rare, recessively inherited form of EB simplex that results from mutations in the plectin gene. Absence of the plectin protein has been found to be responsible for the structural failure of the skin and muscles, resulting in EB simplex and muscular dystrophy (EBS-MD). Although generalized blistering usually presents at birth, the onset of the muscular dystrophy usually does not occur until infancy or adulthood. Milia, scarring and nail dystrophy are common. Keratoderma of the palms and soles may occur but is rare. Dental enamel is normal, and there does not appear to be an increased tendency to dental caries. Blistering of the mouth does not occur, and affected children typically do not develop poor growth and anemia.

With the exception of pyloric atresia and chronic constipation, affected children typically do not have problems with the trachea/respiratory tract, intestines/gastrointestinal tract, eyes or genitourinary tract. There is no increased risk of skin cancer.