[Dystrophic epidermolysis bullosa: surgical treatment of advanced hand deformities]

Abstract

Dystrophic epidermolysis bullosa (Hallopeau-Siemens, recessive dystrophic epidermolysis bullosa) is a rare inherited disorder of the skin and mucosa, characterized by blistering in response to the slightest mechanical trauma. Healing is associated with scarring and the formation of contractures and milia. Following repetitive trauma (friction), this process leads to severe hand deformities with digits contracted in flexion, the thumb contracted in adduction and pseudo-syndactyly. In advanced cases (as described here), the hands show a mitten-like deformity and digits are encased in an epidermal "cocoon". This results in complete loss of function with major consequences for both the patient's (children's) daily life and their psychosocial development. We demonstrate the advantages of the (simplified) surgical procedure including "de-cocooning"/degloving, syndactyly-release, release of the thumb and the digital joint contractures and Kirschner-wire stabilization. Spontaneous epithelialisation of skin defects proved to be unproblematic and advantageous compared to skin transplantations, flaps, keratinocyte transplantations and other more ambitious procedures. Reviewing the published long-term results of other methods, we favour the procedure described because it simplifies and accelerates the overall treatment. From 1998 to 2001, we treated three children with recessive dystrophic epidermolysis bullosa and five hands were operated. A total number of 23 interventions was necessary (21 x using face masks, 2 x oral intubation). Pseudo-syndactyly (digits II - V, partially or totally) occurred in four hands after six to ten months. Flexion contractures of the digits occurred in two hands after eight to ten months. Limitating adduction contracture of the thumb occurred in two hands after eight to twelve months. Digital function (pinch and grasp) was actually preserved in two hands for 15 to 30 months. An active surgical approach is justified by the gain in functional improvement of the hand - even if only temporary - and, consecutively, by the positive effect on the child's development.