Abstract
This chapter reviews the congenital blistering syndromes. These include the many forms of epidermolysis bullosa (EB) of which the simplex form is the most common. Junctional and dystrophic EB and Kindler syndrome are the other major types of EB. The differential also includes Peeling Skin syndrome and other common forms of neonatal blisters due to infection, maternal disease or other genetic disorders. Genetic sequencing panels are rapidly replacing dermatopathology in the diagnosis of these complex and overlapping conditions. Multidisciplinary care is necessary for severely affected infants and some disorders are lethal in the neonatal period. The clinical case presentation features an infant with autosomal recessive lethal acantholytic epidermolysis bullosa.
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