EPIDERMOLYSIS BULLOSA

 Clinical Features

1 This is extremely rare group of hereditary blistering disorders which are characterized by blisters and erosions resulting from trivial trauma.

2.  Blisters occur soon after birth and mainly concentrate on bony prominence of 4 limbs.

3. An acquired form mimicking Bullous Pemphigoid known as epidermolysis bullosa acquisita (EBA) occurs in adults.

4. Bullae tend to occur at sites of trauma.

5. The IgG in these patients binds to the anchoring fibrils attached to the Lamina densa.

 6. EBA may be associated with underlying systemic diseases like SLE, inflammatory bowel disease, amyloidosis and internal malignancy.

 Investigations

The diagnosis can be confirmed by skin biopsy for histopathology and electronmicroscopy. EBA can be differentiated from bullous pemphigoid by the sodium chloride split skin test and immunofluorescence on the skin specimen. In EBA, the blister occurs below the split, whereas, the blister occurs on the roof of the split in bullous pemphigoid.

Treatment

For the hereditary EB, no effective treatment is available at present. Antenatal diagnosis and genetic counselling can be offered. Systemic steroid can be useful in EBA.