A rare case of epidermolysis bullosa.

Sir,

Epidermolysis bullosa dystrophica is a rare and debilitating disease, with various forms, in which there is mutation of type VII collagen, compromising the anchoring fibrils that hold the epidermis and dermis together. This leads to recurrent blistering of the skin as a result of even the shearing forces of even the minor traumas to the hands of daily activities, with the raw areas under the blisters being both painful and healing with scar contracture.[12] The repeated occurrence of this process throughout childhood leads to severe digital contractures and eventually, mitten deformities of the hands and feet.

A 10-year-old boy with epidermolysis dystrophica presented to us with bilateral mitten hand [Figures 1 and 2] Preoperative discussions with the anesthetists regarding fitness for anesthesia are essential as it is essential to rule out various associated systemic conditions. Atraumatic intubation is essential. No adhesives can be used to fix the endotracheal tube and intravenous cannula as these are sufficient to raise skin blisters. Contracture release was done in two stages with an interval of 6 months between operations. Split skin graft was harvested from the right thigh without applying traction to the surrounding thigh skin, to avoid raising further blisters here. The graft was applied to the recipient raw areas and Plaster of Paris was applied over dressings on the grafts. The grafts took well. Regular physiotherapy was started 2 weeks after surgery and a custom-made thermoplastic was applied between exercise periods and at night for 2 years.

Figure 1

Right hand preoperative

Figure 2

Left hand preoperative

The father and child were counseled carefully about the nature of disease and the likelihood of recurrence, the importance of prolonged splinting and the need for long-term physiotherapy. The patient followed the advice religiously for 8 months and had no recurrence of the contractures [Figures 3 and 4]. Unfortunately, follow-up after this was irregular and, at 3 years, there was recurrence of the contractures of the middle, ring, and little fingers of the right hand and the little finger of the left hand [Figures 5 and 6].

Figure 3

Right hand postoperative

Figure 4

Left hand postoperative

Figure 5

Left hand 3 years post-op

Figure 6

Bilateral hand 3 years post-op

Treatment of mitten hands as a result of epidermolysis dystrophica is very challenging. The only available treatment of this condition, once contractures are established is surgery. The scars are incised and the contracture thereby released. The defect produced thus is coveredwith split thickness skin graft. All shearing forces have to be avoided both by the anesthetists and the surgeons and then, continuously, throughout the post-operative period. For long-term success, this must be followed by education of the child and parents, and long-term splinting, regular physiotherapy, and meticulous skin care. Unfortunately, a high rate of recurrence is common. Vozdvizhensky and Albanova, in Russia, reported recurrence in 53.5% of 19 patients.[3]

S Marin-Bertolin and colleagues reported on similar management in of four patients with a long-term recurrence rate of 100%.[4] Terrill and colleagues reported a recurrence rate of 13% after 1 year and 67% after 5 years in 45 patients.[5]