Saturday, 16 November 2013

EB Simplex with mottled pigmentation

        EBS with Mottled Pigmentation is a rare autosomal dominant form of  EB simplex. this type of EBS is due to mutations in Keratin 5. It is present  at birth with widespread blistering. Milia and scarring typically do not occur, although a mild form of keratoderma may occur. Nail dystrophy usually is mild.
        The characteristic feature of this type of EBS is the development of brown discoloratin after recurrent blistering on the body extremities. Dental enamel is normal. Blistering of the mouth does not occur that often.
      Affected person typically do not develop poor growth, anemia,or problems with the trachea/respiratory tract, intestines/gastrointestinal tract, eves or genitourinary tract.

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