In an 8-day-old child with history of consanguinity in the parents, the mother reports blisters and peeling off of the skin at the site of handling and pressure. There was a similar history in the previous child, which proved to be fatal. The diagnosis is: (AIIMS Nov 2014)
|D||Congenital epidermolysis bullosa|
Congenital epidermolysis bullosa
1). Diseases characterized under the general term epidermolysis bullosa are a heterogeneous group of hereditary blistering disorders.
2). All of them are characterized by induction of blisters by trauma and exacerbation of blistering in warm weather.
3). Disorders can be categorized in 3 main headings, viz. epidermolysis bullosa simplex, junctional epidermolysis bullosa and dystrophic epidermolysis bullosa.
4). Junctional epidermolysis bullosa is an autosomal recessive condition which is life-threatening.
5). Affected infant is usually blistered at birth or develops lesions during the neonatal period.