Dystrophic epidermolysis bullosa: treatment of syndactylies and contractures

Abstract

Aim: The term Epidermolysis Bullosa (EB) refers to a group of disorders best characterized by blister formation resulting from increased skin fragility. Clinical manifestations range widely but the localized blistering of the limbs is present in majority of the patients. The hands and feet are exposed to blistering due to intensive use during normal daily activity, with secondary scarring leading to pseudosyndactyly, adduction contracture of the thumb, and flexion or extension contracture of the fingers. Method: All types of EB are rare; the overall incidence and prevalence of the disease is approximately 50 per one million live births. Around 92 percent are cases referred to EB Simplex and only 5 percent to Dystrophic EB. Optimal patient management requires a multidisciplinary approach and involves susceptible tissue injury prevention, the use of advanced wound dressings, nutritional support, and adequate surgical interventions to correct extracutaneous complications. Prognosis varies considerably and is based on both the EB subtype and the overall health of the patient. Results / Discussion: We present 12 clinical cases and the treatment options for patients suffering from syndactyly and contractures due to Dystrophic EB. The standard surgical approach for correcting these deformities is based on degloving of the affected limb, combined blunt-to-sharp release of pseudosyndactyly and contractures as well as skin grafting of the secondary wounds. Post-op protocol requires individual custom-made splinting and fixation of the released fingers, ensuring proper recovery without secondary contractures. Non-adhesive contact dressings play a major role in the dressing technique. Conclusion: Authors conclude that an individual surgical attitude, along with adequate intra and post-operative rehabilitation, ensures restoration of function and a delay of inevitable recurrence.