London – A predictable course of hand contracture was seen in a U.K. study of children with recessive dystrophic epidermolysis bullosa (RDEB), with all children experiencing moderate or severe hand deformity by the age of 12 years.
Sara Freeman/MDedge News
Catherine Miller
This stark finding, reported at the EB World Congress, organized by the Dystrophic Epidermolysis Bullosa Association (DEBRA), highlighted the importance of intervening early with surgical methods that aim to prevent the pseudosyndactyly, or “mitten” hand deformity, which is an unfortunate characteristic of the genetic skin condition.
The investigative team, from the plastic and reconstructive surgery department at Great Ormond Street Hospital for Children NHS Trust, London, presented data from a retrospective case review of 24 children who attended their specialist pediatric EB center between 2010 and 2019. Of these, seven children had surgery to release hand contractures.
A total of 250 hand assessments were made via the novel Assessment of the Component Hand Contractures in Epidermolysis Bullosa (ACE). The assessment provides a hand deformity grade (HDG) – none, mild, moderate, and severe –based on the typical contractures that are seen in RDEB, such as between the fingers (web space contractures), finger flexion contractures, and thumb adduction contractures.
Using the ACE tool, “we found four significant time points regarding hand contracture development,” Catherine Miller, one of the team’s occupational therapists, said during a poster presentation. At birth, none of the children had any signs of hand deformity, but by 2 years of age half had mild hand contracture. By age 6, all children had some form of hand deformity, Ms. Miller said, and by age 12 all had moderate to severe hand deformity, “so adding to the data that hand deformities really are inevitable.”
Other findings were that the thumb and finger web spaces were the first to contract, Ms. Miller said. “So they tend to develop earlier and progress relatively slowly.” By contrast the finger flexion contractures occurred later on, “but progress more relatively rapidly,” she observed.
“Our data are limited as not every child is included at every age, and out tool has not yet been validated,” Ms. Miller and team acknowledged in the poster. “We assume that hand contractures do not improve, and therefore have included operated hands (mean age 6 years) at their last preoperative HDG in order to represent older children and more advanced hand deformities.”
In an interview, Ms. Miller noted that families have a lot going on when their newborn is diagnosed with RDEB, so introducing the idea that there will be substantial hand deformities in the future “is a difficult conversation. We have to take that gently.”
There are nonsurgical approaches to keeping the hands open, such as “encouraging them to open their hands in play, daily stretches; we can make splints with a silicon substance and other thermoplastic materials,” Ms. Miller said.