A term male newborn presented with extensive skin peeling with multiple areas of blister formation since first day of life. There was extensive peeling of the skin affecting about 40% of body surface area. The oral mucosa was also involved. There were large areas of flaccid bullae formation (Fig. 1). Initial differentials considered were: bullous impetigo, staphylococcal scalded skin syndrome and epidermolysis bullosa (EB). He was treated with intravenous cefotaxime, amikacin and cloxacillin; cultures from blood and wound were subsequently reported as sterile. The sepsis markers were also negative. Skin biopsy revealed blister formation at dermo-epidermal junction with no inflammatory cells in the blister, suggestive of junctional epidermolysis bullosa (Fig. 2). Minimal handling and daily dressing with vaseline gauze were done. Child died on 40th day of life due to extensive involvement and secondary sepsis.

Fig. 1 Neonate showing extensive blistering with erosions over the face, trunk and extremities.

Fig. 2 Photomicrograph of skin biopsy (haematoxylin and eosin stain: 10 X magnification) showing clefting and blister formation at dermo-epidermal junction (arrow) (a), with no acantholytic cells or inflammatory cells within the blister (b).

The differential diagnosis for a neonate presenting with blisters are: bullous impetigo, staphylococcal scalded skin syndrome, epidermolysis bullosa and bullous pemphigoid. Junctional epidermolysis bullosa (JEB) is a rare autosomal recessive disorder due to mutations in the gene coding for Laminin 332 causing blisters in Lamina lucida. Mechanical fragility at birth is the hallmark of the disease characterized by extensive blistering of the skin associated with crusting and erosions. Skin biopsy is the investigation of choice for the suspicion of bullous disorders in the neonatal period. Light microscopy helps to exclude the other infective bullous disorders; immunofluorescence helps to diagnose the immune-mediated bullous disorders. Electron microscopy helps in identifying the level of blister formation within the dermo-epidermal junction. Finally genetic testing helps in confirmation of the diagnosis. Treatment includes proper wound care, prevention of secondary bacterial infections, adequate nutrition and prevention of dehydration. This case probably had Herlitz type JEB, presenting in neonatal period with extensive blistering and a lethal course.