Occupational Therapy Intervention in Recessive Dystrophic Epidermolyis Bullosa

Mary Gavacs, M.Ed., OTR/L; Shriners Hospitals for Children- Erie


Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare genetic condition that results in extremely fragile skin. A mutation within the Collagen VII gene occurs, resulting in faulty production of proteins in the basement membrane zone. The anchoring fibrils are incorrectly formed and cannot serve as a stabilizer between the dermal & epidermal layers of skin. (2) The primary effect is blistering and scarring of the skin with pseudo syndactaly formation in the web spaces of the hands and the feet. Minimal friction causes skin to blister, then scar, resulting in a loss of the web spaces with flexion contractures of the digits. (1,2,5)

Figure 1

This article will discuss the Occupational Therapy (OT) intervention received by an individual child with RDEB and the splinting measures taken to preserve hand function.

The rarity of this condition has resulted in a paucity of literature related to therapy and rehabilitation in RDEB. The Dystrophic Epidermolysis Bullosa Research Association of America, Inc. has been an excellent source of information, providing sources in medical literature and phone consultation with the Nurse Educator. OT's with experience with RDEB were located through a pediatric list serv, the web pages of people with RDEB and networking with other Shriners Hospitals.

This now seven-year-old child has received services at Shriners Hospitals for Children in Erie, Pennsylvania since 1999. In that time, she has undergone surgical release of the web spaces and flexion contractures of the fingers on each hand annually. The initial Occupational Therapy assessment included measurement of active and passive range of motion of the hands, grip strength, cutaneous sensation, web space depth and evaluation of fine motor coordination and daily living skills. Initial focus of OT was on limiting pseudosyndactaly progression, preventing further flexion contracture of the fingers, increasing manipulation skills and age appropriate self-care and play skills.

Prior to the first surgery, elastomer putty splints (Figure 2 ) were used on the severely contracted fingers to prevent further flexion. Following surgical release of the web spaces and flexion contractures, new elastomer putty splints with a thermoplastic splint base were fabricated to maintain the increased web space depth. A thermoplastic base was added for stability to support the straightened fingers, was hand based and secured with gauze dressing to minimize pressure on the skin. The splints were worn at night. Custom fabricated gauntlet style pressure gloves were worn during waking hours. (Figure 4 ) Soft nylon spandex fabric is used with a velcro closure at the wrist.

Figure 2

  

Eventually, the elastomer putty splints were discontinued and pressure gloves with foam strips placed in the web spaces, were worn at night, The elastomer putty splints were effective when the contractures were more severe, but not when the fingers had been released.

The literature indicates that this population does not tolerate splinting with thermoplastic materials and velcro straps and that great care must be taken to prevent skin damage. (3,4) Slowing the progression of the pseudosyndactaly was addressed through the use of the pressure gloves, but finger flexion contractures remained a concern. The child's parents were willing to give firmer splints a trial. Functional position hand splints were molded with closed cell foam adhered to the thermoplastic before it is heated. After initial molding of the splint, web spacers were placed using the same closed cell foam. Velfoam straps were used to minimize shear. (Figure 3 ) This individual child has been able to wear functional position hand splints without excessive trauma to the skin. This may not be the case with all children with RDEB. Currently, this child is wearing the pressure gloves during the day and the functional position hand splints at night.

Figure 3

Occupational Therapy services have also focused on of independence with selfcare, play and school related activities. This girl is in the first grade, attends dance class and is doing well academically and socially. Finger range of motion, sensation and manipulation skills are decreased from the norm, but her function is fairly typical for her age.

Her parents are highly motivated to provide good care for their daughter, and do well with balancing the need to protect her skin and allowing her to develop in a typical child fashion. They are excellent at problem solving and function as equal team members with the staff at Shriners Hospitals for Children – Erie. OT will continue to assist this child to become as independent as possible by optimizing skin integrity while maintaining hand function, slowing the progression of pseudosyndactaly and preventing finger flexion contractures. This therapist had not had the opportunity to care for anyone with RDEB previously and this has been a tremendous learning experience as a therapist with both frustrations and successes along the way. Any comments or additional information resources would be welcomed.

References:

 

    1. Schober-Flores, C; Epidermolysis Bullosa: The Challenges of Wound Care, Dermatology Nursing, 2003; 14(20), 141-144

 

    1. Fine JD, Bauer EA, McGuire J, Moshell A, eds. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances and the Findings of the National Epidermolysis Bullosa Registry. Baltimore: Johns Hopkins University Press, 1999

 

    1. Ladd, A; Kieble, A; Gibbons, S. Surgical Treatment & Postoperative Splinting of Recessive Dystrophic Epidermolysis Bullosa; The Journal of Hand Surgery; Sept 96, 888 –897

 

    1. Mullett, F & Smith P; Hand Splintage Following Surgery for Dystrophic Epidermolysis Bullosa; British Journal of Plastic Surgery, 1993, (46), 192193

 

    1. Lin AN, Carter DM eds. Epidermolysis Bullosa: Basic & Clinical Aspects; New York: Springer-Berlag, 1992

 

 

Information Resources

 

DebRA (Dystrophic Epidermolysis Bullosa Research Association of America, Inc.) www.debra.org

 

EB Medical Research Foundation www.med.stanford.edu/school/dermatology/ebmrf/

 

National Cancer Institute, National Institutes of Health, Department of Health and Human Services

 

www.cancer.gov

 

Material Resources

 

Pressure Gloves: Barton Carey Company

 

Splint Materials, Elastomer Putty & Closed Cell Foam: Sammons Preston, Ali Med; North Coast Medical

 

Author's Address

 

Mary Gavacs, M.Ed, OTR/L
Shriners Hospitals for Children-Erie
1645 W 8th St
Erie, Pennsylvania 16505
mgavacs@shrinenet.org