EB Simplex with Muscular Dystrophy

     EB Simplex -Muscular Dystrophy (EBS-MD) is an extremely rare, recessively inherited form of EBS. It is  from mutations in the plectin gene. The absence of the plectin protein has been found to be responsible for the structural failure of the skin and muscles, resulting in (EBS-MD). Generalized blistering is usually present at birth. The onset of MD usually does not occur until infancy or adulthood. Milia – Small, superficial white cysts that may form before blistering. Scarring and nail dystrophy (abnormal appearance of the nails, which may appear small and poorly formed, ridged, unusually shaped, or thickened and discolored) are common with EBS-MD.

           People with EBS-MD can have Keratoderma – Superficial thickening of the skin (a yellow, waxy appearance on the palms and soles may occur but is rare). Dental enamel is normal. Blistering of the mouth does not occur. Children typically do not develop poor growth and anemia. An affected person typically does not have problems with the trachea/respiratory tract, intestines/gastrointestinal tract, eyes or genitourinary tract.