EB simplex (EBS)
EBS is the most common type of EB (70%). The skin comes loose nearer to the skin’s surface, thus, generally speaking, healing is better than DEB and JEB and scarring is less of a problem. It can be worse in hot humid weather, and in some cases hot food or drinks can causing blistering in the mouth. It is usually caused by mutations in the genes for keratin 5 or keratin 14, which are often inherited in a dominant manner.
  • When EBS is localized, it usually affects friction areas such as the palms and soles.
  • Severe Generalized EBS (formerly known as EBS Dowling-Meara is the most severe form. Babies are often born with widespread blisters that present problems with handling, dressing, and infections. Problems with blisters tend to reduce as the child gets older. Thickening of the skin of the palms and soles is called keratoderma and may cause contractures and difficulties with various functions such as walking.
  • Other general problems are uncommon with the exception of constipation and, rarely, strictures of the gullet. EBS can be associated with other diseases such as pyloric atresia (narrowing of outlet of the stomach, EBS-PA) and, muscular dystrophy (EBS-MD).
  • Nails may be thick and dystrophic.
  • EB Naevi is common.
  • Severe EBS can be life threatening in the first year of life
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