A Case Report of an Infant with Autosomal Recessive Dystrophic Epidermolysis Bullosa: COL7A1 Gene Mutations at C2005T and G7922A

DISCUSSION Congenital epidermolysis bullosa must be differentiated from other diseases such as staphylococcal scalded skin syndrome (SSSS), neonatal impetigo, congenital bullous ichthyosiform erythroderma, congenital syphilis, and neonatal herpes simplex. Among these diseases, SSSS is a severe acute generalized exfoliative pustulosis that occurs in neonates and is characterized by the development of flaccid scalded bullae and large areas of skin exfoliation due to generalized erythema throughout the body (2). SSSS mostly occurs with sudden onset 1-5 weeks after birth. Initially, erythema occurs around the mouth or eyelids and then rapidly spreads to the trunk and proximal extremities or even to the entire body, which usually heals after 7-14 days. SSSS is a blistering and desquamative skin disease caused by the exfoliative toxins of staphylococcus aureus. It is a toxin-mediated condition (3), so the blisters and erosions are usually sterile. In this case, the child had three consecutive negative common bacterial culture test results during hospitalization, enabling exclusion of SSSS. Neonatal impetigo, congenital bullous ichthyosiform erythroderma, congenital syphilis, and neonatal herpes simplex all have associated specific pathogenic infections or are accompanied by other typical clinical manifestations, but in this case the child had no obvious infection manifestations except for specific skin lesions, allowing exclusion of the above diseases. Autosomal recessive dystrophi...
Source: Herpes - Category: Infectious Diseases Authors: Source Type: research