Epidermolysis bullosa dystrophica (Hallopeau-Siemens) an der Hand - Operative Strategie und Ergebnisse

Abstract

Dystrophic epidermolysis bullosa is an inherited, blister-forming skin disease. The Hallopeau-Siemens syndrome type is one of the most severe forms. Even minimal trauma to the skin leads to excessive blister formation that always heals with scars because the defect is located in the dermis at the dermoepidermal junction. A genetic defect of collagen VII leads to insufficient or missing anchoring fibrils. The patients suffer from protein loss, anaemia, secondary infections, oesophageal strictures, malignant transformation and hand deformities. These present as pseudosyndactyly, flexion contractures and, in advanced stages, as a mitten-like deformity. This results in the complete loss of function of the hands and consequently to severe psychosocial problems for the young patients. There is no cure for this disease at present, so surgical treatment of the hand deformities is the only option. From 1998 to 2002 seven hands in four patients were operated on in our clinic. Operations included pseudosyndactyly separation, arthrolysis with Kirschner-wire fixation of finger joints, as well as "metacarpolysis" of the thumb. Redressing splints/dressings were applied. Spontaneous epithelialisation was awaited and was complete within four weeks without problems. Afterwards customised silicon splints and cotton gloves are complimented by intensive physiotherapy. There were no serious complications. Recurrence is unavoidable, but we could restore basic hand functions for at least 2.5 years. Postoperative care is important to postpone reoperations. We prefer the most simple operative procedure as described without skin grafts, flaps or keratinocyte transplants, because a comparable outcome is achieved with less trauma and stress for the patients.