Hand surgery for dystrophic epidermolysis bullosa.

BACKGROUND

Epidermolysis bullosa (EB) is a group of inherited, mechanobullous disorders caused by mutations in various structural proteins in the skin. The manifestation of these disorders in the hand is of digital contractures and pseudosyndactyly or "cocoon hands," causing significant functional impairment.Our preferred surgical treatment of these patients involves separation of the digits from the palm by releasing the finger flexion contractures and separating them, primarily the adducted thumb. However, recurrence is common. Our hypothesis was that functional improvement is gained irrespective of recurrence of contractures.

METHODS

We retrospectively evaluated 4 patients, 2 male and 2 female, whose average age was 11 years, treated surgically by the separation of all their digits and by coverage with skin grafts. The follow-up period was between 1 and 3½ years.

RESULTS

Partial recurrence of the deformity was observed in all patients. Recurrence was more pronounced in the nondominant hand, especially between the digits and of flexion contractures, but did not preclude the use of precision or oppositional pinch at final follow-up. The patient with the longest follow-up has been referred for revision surgery to gain further release of contractures.Significant rehabilitation goals were achieved in all 4 patients after surgery. After 6 months, both of the younger patients were measured for finger dexterity, which showed lower scores than the norm, although this was felt to be dependent on which daily manual activities they were more familiar with. These tests could not have been performed before surgery.

CONCLUSIONS

All patients and families felt the effort was worthy. Separating the thumb and straightening the digits was found to be significant, yet the indication for separating all the digits is debatable. The need for revision surgery, to maintain the digit function, is clear.

LEVEL OF EVIDENCE: Level 4, case series.