User login
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.
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.
Hand surgery is a ‘blunt tool’
“The primary problem, of course, is the dermal fibrosis that we see that creates scarring and secondary problems,” said Gill Smith, a plastic surgery consultant who works with Ms. Miller at the hospital.
“In an ideal world, you would bandage up [the children] so that they could never injure their hands, but then they couldn’t use them, they couldn’t grow properly, and they could not develop,” Ms. Smith said in an oral presentation about hand surgery in children with RDEB. “You do not want them to get to the secondary stage, because the secondary stage is a real problem – you get all these impairments of hand function – pseudosyndactyly, finger contraction, and first web contracture, and ending up in a ‘mitten’ hand.”
Surgery is a very “crude” and “blunt tool,” Ms. Smith emphasized. Prevention is key, and perhaps in the future gene therapy, mesenchymal stem cells, and the like will mean that there is less need for hand surgery, she intimated. Until then, there are some things that can be done surgically – such as wrapping the hands, using gloves to protect the skin, stretching out the web spaces of the palm, and using splints. “All of these things we are trying to improve all the time, and come up with new ideas.”
The question is when to intervene? Ms. Smith said that in any other type of hand surgery, particularly in children where growth and function might be affected, the aim would be to “go in early.” In children with RDEB, however, the timing is not so clear: “Should we be going in early, before secondary joint changes, before we get secondary tendon shortening?” Perhaps this would result in less complex surgery, she suggested, but “it is a really huge deal for families and for children. For the moment we are still only really doing it when there [are] quite significant functional difficulties.”
When it comes to the type of surgery done to release the hands, “everyone has variants on the release technique,” but none are known to be better than any other, Ms. Smith said. Surgical release deals with consequences of dermal fibrosis but also creates more fibrosis, she cautioned.
Effects of hand surgery do not last long
How long the surgery’s effect will last is “what everyone wants to know, and I don’t think anyone has found a really good answer. It is variable, but unfortunately it’s a lot shorter than we’d like,” said Ms. Smith.
Indeed, data in another poster presentation by Ms. Smith and colleagues showed that the situation can be ‘back to square one’ within just a couple of years. Of the seven patients who had surgery at a mean 7 years of age (range 6-10 years), “most had returned to their original total score by 2 years post surgery,” the team wrote. All children “were initially happy with both appearance and function after surgery” they added; however, “happiness gradually decreased with time as they lost function and their scores increased with recurrence of contracture.”
The team noted that “sometimes after surgery a different component of the hand contracture worsened but function was preserved.”
While the ACE tool used by the team has not yet been validated, they believe it to be “a systematic tool with a structured method of administration.” As such it can help with informed decision making, they believe, and it could be used with functional measures to see how hand contractures might be impacting hand function and quality of life.
The ACE tool can be downloaded for free from the GOSH website.
SOURCE: Jessop N et al. EB 2020. Posters 42 and 43; Smith G et al. Poster 63.
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.
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.
Hand surgery is a ‘blunt tool’
“The primary problem, of course, is the dermal fibrosis that we see that creates scarring and secondary problems,” said Gill Smith, a plastic surgery consultant who works with Ms. Miller at the hospital.
“In an ideal world, you would bandage up [the children] so that they could never injure their hands, but then they couldn’t use them, they couldn’t grow properly, and they could not develop,” Ms. Smith said in an oral presentation about hand surgery in children with RDEB. “You do not want them to get to the secondary stage, because the secondary stage is a real problem – you get all these impairments of hand function – pseudosyndactyly, finger contraction, and first web contracture, and ending up in a ‘mitten’ hand.”
Surgery is a very “crude” and “blunt tool,” Ms. Smith emphasized. Prevention is key, and perhaps in the future gene therapy, mesenchymal stem cells, and the like will mean that there is less need for hand surgery, she intimated. Until then, there are some things that can be done surgically – such as wrapping the hands, using gloves to protect the skin, stretching out the web spaces of the palm, and using splints. “All of these things we are trying to improve all the time, and come up with new ideas.”
The question is when to intervene? Ms. Smith said that in any other type of hand surgery, particularly in children where growth and function might be affected, the aim would be to “go in early.” In children with RDEB, however, the timing is not so clear: “Should we be going in early, before secondary joint changes, before we get secondary tendon shortening?” Perhaps this would result in less complex surgery, she suggested, but “it is a really huge deal for families and for children. For the moment we are still only really doing it when there [are] quite significant functional difficulties.”
When it comes to the type of surgery done to release the hands, “everyone has variants on the release technique,” but none are known to be better than any other, Ms. Smith said. Surgical release deals with consequences of dermal fibrosis but also creates more fibrosis, she cautioned.
Effects of hand surgery do not last long
How long the surgery’s effect will last is “what everyone wants to know, and I don’t think anyone has found a really good answer. It is variable, but unfortunately it’s a lot shorter than we’d like,” said Ms. Smith.
Indeed, data in another poster presentation by Ms. Smith and colleagues showed that the situation can be ‘back to square one’ within just a couple of years. Of the seven patients who had surgery at a mean 7 years of age (range 6-10 years), “most had returned to their original total score by 2 years post surgery,” the team wrote. All children “were initially happy with both appearance and function after surgery” they added; however, “happiness gradually decreased with time as they lost function and their scores increased with recurrence of contracture.”
The team noted that “sometimes after surgery a different component of the hand contracture worsened but function was preserved.”
While the ACE tool used by the team has not yet been validated, they believe it to be “a systematic tool with a structured method of administration.” As such it can help with informed decision making, they believe, and it could be used with functional measures to see how hand contractures might be impacting hand function and quality of life.
The ACE tool can be downloaded for free from the GOSH website.
SOURCE: Jessop N et al. EB 2020. Posters 42 and 43; Smith G et al. Poster 63.
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.
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.
Hand surgery is a ‘blunt tool’
“The primary problem, of course, is the dermal fibrosis that we see that creates scarring and secondary problems,” said Gill Smith, a plastic surgery consultant who works with Ms. Miller at the hospital.
“In an ideal world, you would bandage up [the children] so that they could never injure their hands, but then they couldn’t use them, they couldn’t grow properly, and they could not develop,” Ms. Smith said in an oral presentation about hand surgery in children with RDEB. “You do not want them to get to the secondary stage, because the secondary stage is a real problem – you get all these impairments of hand function – pseudosyndactyly, finger contraction, and first web contracture, and ending up in a ‘mitten’ hand.”
Surgery is a very “crude” and “blunt tool,” Ms. Smith emphasized. Prevention is key, and perhaps in the future gene therapy, mesenchymal stem cells, and the like will mean that there is less need for hand surgery, she intimated. Until then, there are some things that can be done surgically – such as wrapping the hands, using gloves to protect the skin, stretching out the web spaces of the palm, and using splints. “All of these things we are trying to improve all the time, and come up with new ideas.”
The question is when to intervene? Ms. Smith said that in any other type of hand surgery, particularly in children where growth and function might be affected, the aim would be to “go in early.” In children with RDEB, however, the timing is not so clear: “Should we be going in early, before secondary joint changes, before we get secondary tendon shortening?” Perhaps this would result in less complex surgery, she suggested, but “it is a really huge deal for families and for children. For the moment we are still only really doing it when there [are] quite significant functional difficulties.”
When it comes to the type of surgery done to release the hands, “everyone has variants on the release technique,” but none are known to be better than any other, Ms. Smith said. Surgical release deals with consequences of dermal fibrosis but also creates more fibrosis, she cautioned.
Effects of hand surgery do not last long
How long the surgery’s effect will last is “what everyone wants to know, and I don’t think anyone has found a really good answer. It is variable, but unfortunately it’s a lot shorter than we’d like,” said Ms. Smith.
Indeed, data in another poster presentation by Ms. Smith and colleagues showed that the situation can be ‘back to square one’ within just a couple of years. Of the seven patients who had surgery at a mean 7 years of age (range 6-10 years), “most had returned to their original total score by 2 years post surgery,” the team wrote. All children “were initially happy with both appearance and function after surgery” they added; however, “happiness gradually decreased with time as they lost function and their scores increased with recurrence of contracture.”
The team noted that “sometimes after surgery a different component of the hand contracture worsened but function was preserved.”
While the ACE tool used by the team has not yet been validated, they believe it to be “a systematic tool with a structured method of administration.” As such it can help with informed decision making, they believe, and it could be used with functional measures to see how hand contractures might be impacting hand function and quality of life.
The ACE tool can be downloaded for free from the GOSH website.
SOURCE: Jessop N et al. EB 2020. Posters 42 and 43; Smith G et al. Poster 63.
REPORTING FROM EB 2020