Plakophilin deficiency EB simplex

   Plakophilin deficiency, also known as ectodermal dyplasia-skin fragility syndrome, is another very rare autosomal recessice form of EB simplex. it is caused by plakophilin mutations.
    Generalized erosions with rare blisters are present at birth. Milia and scarring are not seen. Nail dystrophy is common, as is hair loss. Thickening of the skin with fissuring of the palms and soles, fissuring of the palms and soles, fissuring of the tongue and characteristic fissuring around the mouth are characteristic.
      Dental enamel is normal. Poor growth, constipation, esophageal stricture, sparse eyelashes and inflammation of the eyelids have been reported. Involvement of the trachea/respiratory tract and genitourinary tract have not been reported.