Leg amputation and dystrophic epidermolysis bullosa: A case report with 15 years of follow-up

Thévenon, A.; Preud'homme, Marguerite; Patenotre, P; Catteau, B.; Blanchard-Dauphin, A.; Wieczorek, V.; Tiffreau, V.

doi:10.2340/16501977-2125

Cited by 4 publications

(4 citation statements)

References 5 publications

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“… 6 Mobility in EB patients is an essential aspect. 7 Success of fitting prosthesis despite persistent wound at stump has been reported, 10 which was discussed with our patient to enhance his mobility and quality of life.…”

Section: Discussionmentioning

confidence: 81%

Dystrophic Epidermolysis Bullosa

et al. 2018

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Epidermolysis bullosa is a rare inherited blistering disease with an incidence of 8-10 per million live births. Dystrophic epidermolysis bullosa is a type of epidermolysis bullosa caused by mutation in type VII collagen, COL7A1. There are 14 subtypes of dystrophic epidermolysis bullosa and 400 mutations of COL7A1. Electron microscopy is the gold standard diagnostic test but expensive. Immunofluorescence study is a suitable diagnostic alternative. Trauma prevention along with supportive care is the mainstay of therapy. Squamous cell carcinoma develops at an early age in epidermolysis bullosa than other patients, particularly in recessive dystrophic epidermolysis bullosa subtypes. Regular follow up is imperative in detecting and preventing complications. Gene therapy, cell therapy and bone marrow transplantation are the emerging novel therapeutic innovations. Preventing possible skin and mucosal injury in patients requiring surgery should be worked on. Here, we present a case of dystrophic epidermolysis bullosa in a 26 year male.

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Section: Discussionmentioning

confidence: 81%

Dystrophic Epidermolysis Bullosa

et al. 2018

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“…Prosthesis for upper extremities can support continued activities of daily living to enhance QoL, such as driving to work [ 22 ]. For lower extremity prosthesis, the physiotherapist can focus on upright weight bearing therapeutic activities to improve ambulation within the home and community with or without the use of assistive devices [ 23 ]. When orthotics, prosthetics or durable medical equipment become ineffective at enriching or maintaining functional activities, a re-evaluation by a physiotherapist would be recommended to identify changes in the musculoskeletal system or cardiovascular system before addressing changes to the durable medical equipment (Table 2 ).…”

Section: Recommendationsmentioning

confidence: 99%

Physiotherapy for epidermolysis bullosa: clinical practice guidelines

Weisman

Chan

Lapointe

et al. 2021

Orphanet J Rare Dis

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Epidermolysis bullosa (EB) is characterized by skin fragility with blister formation occurring spontaneously or following minor trauma such as gentle pressure or friction. Current physiotherapy practice is based on anecdotal care, clinical expertise and creative problem solving with caregivers and individuals with EB. Evidence based intervention is needed to establish a foundation of knowledge and to guide international practitioners to create and improve standards of care to effectively work with individuals living with EB. This clinical practice guideline (CPG) was created for the purpose of providing evidence based interventions and best clinical practices for the physiotherapy management of individuals with EB. A survey was conducted within the EB community and six outcomes were identified as a priority to address in physiotherapy management, including (1) attaining developmental motor milestones, (2) identifying safe and functional mobility in the natural environment, (3) encouraging ambulation endurance, (4) supporting safe ability to bear weight, (5) improving access to physiotherapy services, and (6) optimizing interaction with the community. A systematic literature review was conducted and articles were critically analyzed by an international panel consisting of thirteen members: healthcare professionals (including physiotherapist, doctors, and occupational therapist), caregivers, and individuals with EB. Recommendations were formulated from evidence and panel consensus. An external panel of twelve were invited to improve the quality and gather feedback on draft manuscript and recommendations. This CPG describes the development of recommendations for physiotherapy management including several best practice interventions. This guideline lays the foundational work for physiotherapist throughout the world to provide high quality services while improving and maintaining functional mobility and independence within the EB community. The CPG outlines limitations in the evidence available and possible future research needed to improve physiotherapy practice.

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“…To our best knowledge, only four cases of successful prosthetic fitting in persons with this type of dermatological background have been reported. 2–5…”

Section: Introductionmentioning

confidence: 99%

“…To our best knowledge, only four cases of successful prosthetic fitting in persons with this type of dermatological background have been reported. [2][3][4][5] The multidisciplinary approach with oncological and plastic surgeons, dermatologists, and the full rehabilitation team is of great value in the management of these patients.…”

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confidence: 99%

Successful forearm prosthesis fitting in a patient with epidermolysis bullosa dystrophica

Verduyn

Morren

Stas

et al. 2018

Prosthetics &Amp; Orthotics International

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Despite multiple potential skin problems of the stump, the patient was successfully fitted with a custom-designed adaptive prosthesis. Preparation for this fitting was done by a comprehensive multidisciplinary patient-centered approach. Clinical relevance Despite severe skin fragility, a patient with epidermolysis bullosa dystrophica was successfully fitted with a custom-designed adaptive upper limb prosthesis allowing good functional outcome. This required a multidisciplinary and patient-centered approach.

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Leg amputation and dystrophic epidermolysis bullosa: A case report with 15 years of follow-up

Abstract: Despite the constant presence of wounds on the stump, amputees with dystrophic epidermolysis bullosa can successfully be fitted with a prosthesis.

Cited by 4 publications

References 5 publications

Dystrophic Epidermolysis Bullosa

Dystrophic Epidermolysis Bullosa

Physiotherapy for epidermolysis bullosa: clinical practice guidelines

Successful forearm prosthesis fitting in a patient with epidermolysis bullosa dystrophica

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