Autosomal Recessice EB Simplex

           Autosomal  Recessive EBS is a rare form of EB Simplex. It is due to mutations in keratin 14. It is present at birth with generalized blistering. Blistering around the anus and genitalia may occur. Milia and scarring may be observed, and dystrophic nails are common. 

          Dental enamel is normal. Affected children appear to have a slightly increased tendency to dental cavities. Having blistering of the mouth is common.

          Affected people typically do not have poor growth.  Anemia, or problems with the trachea/respiratory tract. Intestines or gastrointestinal tract, eyes or genitourinary tract. The exception of this is chronic constipation.