Developing Hand Therapy Interventions based on ICF Framework for Epidermolysis Bullosa, the “Worst Skin Disease You Have Never Heard Of*”: An Observational Case Series

Abstract

Study Design-Case series. Epidermolysis Bullosa (EB) is a rare congenital condition, characterized by skin which erupts with blisters, creating deformities in the upper limb from shoulders to fingers, to a “mitten hand.” Care for this population requires a collaborative multidisciplinary team working with the person and their family. Participation in life is limited due to the skin fragility and loss of dexterity is impacted early in life, impairing childhood development, and growth into productive young adults. The University of Minnesota is the only center in the world performing Bone Marrow Transplant (BMT) for a small subset of those with the recessive form of Dystrophic EB (RDEB). While many who attend the EB Center may not be candidates for BMT treatment, all are provided comprehensive care of the EB multispecialty team, of which hand therapy is a part. Patients come from multiple countries as well as the USA, for extended stays. Since 2015 persons with hand deformities related to EB have been referred to hand therapy by multiple departments, toddlers to young adults. Intervention focuses on correction or prevention of finger/hand/wrist/elbow deformities including finger webbing, contracture, and hypermobility, depending on the EB disease type and the hand deformity. There are 4 major subtypes of EB, each with their own severity levels: EB Simplex, Junctional EB, Dystrophic EB (DEB) and Kindler’s Syndrome. The purpose of this case series is to increase the understanding of hand therapy intervention for EB, share lessons learned, and initiate a clinical pathway aligned with the International Classification of Functioning, Disability and Health (ICF).