Treatment of feet deformities in epidermolysis bullosa

Background

Inherited epidermolysis bullosa is a rare disease characterised by mechanical fragility of the skin when under insignificant stress. The main consequences of epidermolysis bullosa, mainly the dystrophic type, despite pseudosyndactyly, are joint contractures and deformities in hands and feet. In this study, we describe our experience treating patients suffering from epidermolysis bullosa, as far as feet deformities are concerned.

Methods

This is a retrospective analysis of a consecutive series of patients presenting feet deformities related to epidermolysis bullosa. Extension contractures of the toes, equinus and cavus deformities were treated with soft tissues surgery.

Results

Thirteen surgical procedures were done in six patients with feet deformities caused by epidermolysis bullosa. Of the feet operated 85.7 % extension contracture of the toes was asymptomatic at follow-up. However, 42.9 % developed hammertoe deformities. There were no recurrence or complications for other deformities. Subjectively, all patients declared themselves very satisfied with the results.

Conclusion

Foot deformities must be treated as early as possible, due to progressive disability for walking and pain symptoms. We considered that, despite long term complications, treatment was adequate and we recommend it. Level of Evidence Level IV.

     

Surgical treatment of pseudosyndactyly of the hand in epidermolysis bullosa: histological analysis of an acellular allograft dermal matrix.

Recessive dystrophic epidermolysis bullosa is an inherited mechanobullous disorder of skin and mucous membranes. The most striking clinical characteristic of the disease is the formation of blisters following trivial trauma. Repeated cycles of blistering and scarring result in gradual encasement of the hand in an epidermal "cocoon." The authors treated an 11-year-old boy with recessive dystrophic epidermolysis bullosa who presented with hand contractures and interdigital pseudosyndactyly. Treatment included release of contractures and application of a biosynthetic dermal analog. This report is a histological analysis of the dermal matrix 1 year after initial placement of the allograft. Fibroblasts repopulating the dermal allograft had a normal synthetic phenotype and lacked the myofibroblastic features seen in the ungrafted control biopsy. Collagen and elastin in the repopulated dermal allograft had normal dermal orientation and maturity in contrast to the sparse, immature collagen and lack of elastin compared with the dermis of an ungrafted control region. Results of this histological study indicate that treatment of recessive dystrophic epidermolysis bullosa with an acellular human dermal allograft may restore some features of normal dermal architecture. Although the initial results are encouraging, longer follow-up is required before definitive conclusions can be made.     

Anaesthetic management of two different modes of delivery in patients with dystrophic epidermolysis bullosa

Dystrophic epidermolysis bullosa is an inherited severe bullous condition characterised by extreme skin fragility and blistering in response to minor trauma. We present two obstetric cases with recessive dystrophic epidermolysis bullosa, one who underwent elective caesarean section, the other who delivered vaginally. The key points in the anaesthetic management of the obstetric patient with dystrophic epidermolysis bullosa include multidisciplinary preassessment, airway management strategies and the role of regional anaesthesia.     

Living Donor Kidney Transplantation in a Patient With Epidermolysis Bullosa: A Case Report

Severe recessive dystrophic epidermolysis bullosa is a very rare inherited disease with excessive blisters forming starting at birth. Surgical intervention in this population creates a challenge: preventing formation of new lesions while managing previously scarred tissues.We present a case of a 27-year-old patient with end-stage renal disease caused by rapidly progressive IgA nephropathy. Living donor kidney transplantation was performed under local, spinal and epidural anesthesia.Living kidney transplantation in epidermolysis bullosa patients with end-stage renal disease should not be a contraindication for transplantation and should be considered as a viable and feasible option after careful preparation.     

Management of Squamous Cell Carcinoma in a Patient with Recessive-Type Epidermolysis Bullosa Dystrophica

BACKGROUND: Surgical treatment of a recessive dystrophic epidermolysis bullosa patient is very difficult for both the surgeon and the anesthetist because of the fragility of the skin and abnormal nature of the tumor bed. OBJECTIVE: We report a case of 54-year-old Japanese recessive dystrophic epidermolysis bullosa patient with squamous cell carcinoma (SCC) of the lateral malleolus. METHODS: A tumor measuring 5.0 x 5.5 cm was surgically excised. The defect was then reconstructed by full-thickness skin grafting. To avoid airway complications, general anesthesia was administered using a face mask. Because the regional lymph nodes were swollen before surgery, the patient underwent sentinel lymph node biopsy. RESULTS: The patient remains well with no sign of recurrence or metastasis 7 months after surgery. CONCLUSION: To preserve activities of daily living, surgery should be performed for squamous cell carcinomas arising in recessive dystrophic epidermolysis bullosa patients.     

Postoperative hand treatment in children with recessive dystrophic epidermolysis bullosa.

The purpose of this study is to give an overview of the postoperative hand treatment options in children with recessive dystrophic epidermolysis bullosa (EB) and to introduce a treatment protocol and discuss the indications and timing. Recessive dystrophic EB is a rare hereditary blistering skin condition, which leads to severe hand deformities. The aim of surgical intervention is to temporarily increase hand function and delay the recurrence of deformation. The aim of postoperative treatment is to maintain optimal range of motion of the wrist, fingers, and thumb and to delay recurrence of deformity to enlarge the possibilities of hand function. Two postoperative treatment programs are described in the literature: a program with static splinting and a program with dynamic splinting. Both splinting programs include exercises. This postoperative treatment program for EB starts with dynamic splinting, followed by static splinting in combination with exercises.     

先天性营养不良型大疱表皮松解症的手功能重建

目的探讨改善先天性营养不良型大疱表皮松解症患者手部挛缩畸形并重建手功能的方法。方法在传统治疗原则基础上,对8例大疱表皮松解症患者进行系统治疗,通过手术、ABC法包扎和换药等方法,改善和重建手功能。结果本组8例患者均取得满意疗效,术后第8周手部创面愈合,表皮生长并覆盖双手,手指能主动背伸和屈曲,手功能及外观均较满意。结论手术方法重建先天性营养不良型大疱表皮松解症患者手部功能,疗效显著,改变了对大疱表皮松解症双手畸形治疗的认识,具有广泛的临床推广价值。     

Anesthesia for a patient with recessive dystrophic epidermolysis bullosa

Two different anesthetic methods were employed for a patient with recessive dystrophic epidermolysis bullosa (R-DEB).One was plexus brachial block in combination with ketamine infusion. The other was general anesthesia with N₂O-O₂-halothane via a face mask. In the former, no particular problem developed. In the later, however, some blisters were newly formed on the region where the anesthesists fingers were attached to hold a face mask.Although mask anesthesia was considered to be not always suitable for patients with DEB, we chose it because tracheal intubation may cause more serious damage to the upper airway leading to airway obstruction.(Tsukamoto N, kobayshi E, Kasuda H et al.: Anesthesia in a patient with recessive dystrophic epidermolysis bullosa. J Anesth 3: 223–226, 1989)     

Ultrasound-guided axillary plexus block in a child with dystrophic epidermolysis bullosa

We report the use of ultrasound-guided axillary brachial plexus block in a child with dystrophic epidermolysis bullosa needing surgical treatment of the right hand. The regional anaesthesia was used in association with sedation/ anaesthesia. This technique is suitable for these difficult patients because it can minimise the risk of new bullae formation due to palpation of landmarks or unintentional intra- or subcutaneous injections. Initial anaesthesia/sedation was provided with sevoflurane until intravenous access was obtained, following which intravenous propofol infusion with ketamine boluses without any invasive airway management was continued for performance of the block and the procedure. This management plan provided good surgical conditions, early postoperative analgesia, minimised stress for the patient and avoided the need to manipulate the airway with instruments and the associated risk of mucosal bullae. The classification and breadth of clinical manifestation of epidermolysis bullosa is complex and briefly summarised. The anaesthetist should clarify the details of a particular patient's form of epidermolysis bullosa, especially in terms of mucosal involvement, as this may greatly influence planning for a procedure.     

Kidney diseases in dystrophic epidermolysis bullosa: case report

Dystrophic epidermolysis bullosa is a genetic skin disease of which the recessive subtype also named Hallopeau-Siemens is the most severe. It is due to lack of expression of type VII collagen which is essential for dermal anchoring. Severe obstructive uropathies of the urethral and bladder area may occur during the first years of life, in relation to local bullous activity. As in acquired bullous diseases, glomerular complications may occur in the dystrophic form during the second and third decade. They consist mostly in AA amylosis or mesangial immunoglobuline A glomerulonephritis, in relation to chronic inflammation and repeated cutaneous infections. End stage renal failure occurs in most cases. Only haemodialysis was used as suppletive treatment in four patients for a short period.     

Caesarean delivery in a pregnant woman with epidermolysis bullosa: anaesthetic challenges

Epidermolysis bullosa is a heterogeneous group of hereditary diseases characterised by extreme fragility of skin and mucosa, with blister and lesion formation spontaneously or in response to trauma. Anaesthetic management of these patients is challenging with respect to positioning, monitoring, use of medical devices and airway management. These challenges are increased when managing labour. We report an elective caesarean delivery in a nulliparous woman with autosomal recessive dystrophic epidermolysis bullosa, managed successfully with spinal anaesthesia.     

Surgical management of hands in children with recessive dystrophic epidermolysis bullosa: use of allogeneic composite cultured skin grafts.

Recessive dystrophic epidermolysis bullosa (RDEB) is characterised by progressive childhood hand syndactyly and flexion contractures, which can be managed surgically but require split thickness autografts to facilitate satisfactory postoperative healing. We report on the partial substitution, for autografts, of improved composite cultured skin (CCS) allografts. The structure and preparation of these CCSs is outlined and their application in the course of 16 operations performed on 7 RDEB children with syndactyly and flexor contractures of fingers is described. Hand contractures were released and web spaces were covered with local flaps and split thickness autografts, while adjacent sides of the digits and other areas, as well as donor sites were generally grafted with CCS. Morphologic and functional results with CCS were judged to be good to excellent, the average time to recurrence was increased approximately 2-fold and smaller autografts needed to be used. In addition, healed CCS-treated donor sites could provide superior donor sites for further surgery.     

Ketamine monoanaesthesia for major surgery in epidermolysis bullosa

A case report is presented of a patient with recessive dystrophic epidermolysis bullosa, who required anaesthesia for a major plastic surgery operation. The special anaesthetic problems are discussed, and ketamine monoanaesthesia is advocated when muscle relaxation is unnecessary. Glycopyrrolate was found to be an excellent antisialogenic agent.     

遗传性大疱性表皮松解症累及泌尿系统1例报道及文献复习

目的探讨遗传性大疱性表皮松解症(EB)患者泌尿生殖系统并发症的诊疗方案。方法通过诊治1例EB并发泌尿生殖系统病变患者,总结体会并复习相关文献。结果患者男性,14岁,属于3种分型中的隐性营养不良型。泌尿系统病损重点在前尿道黏膜破损,梗阻累及膀胱及上尿路。通过临时留置导尿管,尿道梗阻缓解,3个月后随访彩超示肾积水改善,20个月后随访积水未加重。结论 EB累及泌尿系统临床罕见。透射电镜检查是原发病最重要的诊断方法。针对原发病目前尚无有效治疗方法。泌尿生殖系统并发症的检查和治疗应尽量减少尿路粘膜破坏,通畅引流,保护肾功能。     

The effect of occlusive dressings on re-epithelializations of wounds in children with epidermolysis bullosa

Hydrocolloid dressing (HCD), a new oxygen impermeable occlusive dressing, was studied in a controlled clinical trial of three pediatric patients with dystrophic epidermolysis bullosa (RDEB). Advantages of this material over such dressings as paraffin gauze (PG) or the perforated plastic film (TELFA), include considerably faster re-epithelialization, pain free movement of the injured part and fewer dressing changes. The most significant advantage of HCD for RDEB patients has been in the reduction of scar tissue formation, because in this disease, wounds heal with scarring that causes mutilating deformities.     

Inherited epidermolysis bullosa: Case report of finger localization

Inherited epidermolysis bullosa is a rare condition that often present at birth with skin blisters and erosions. They are associated with defective cohesion of the dermis and epidermis. There are 3 principal types: Simple, junctional and dystrophic. The severity of the condition is quite variable. The most severe forms are incompatible with life. The most common types in our country are the severe ones such as the Hallopeau -Siemens subtype. Hands and mucosal areas can develop synechia. We report here a case of dystrophic epidermolysis bullosa in a 27-year-old woman whose finger lesion was managed surgically. This treatment consisted of complete removal of constrictions and adhesions, accompanied by use of a Hueston flap and skin graft to repair the tissue deficit. The patient''s clinical course required several repeat operations. This surgery allowed the possible total loss of hand function to be delayed but the inevitable progression of the illness made the treatment somewhat disappointing. Psychosocial implications are very significant in our setting.KEY WORDS: Congenital, epidermolysis bullosa, fingers     

Lyophilised polyurethane membrane dressing for surgically-separated pseudosyndactyly in epidermolysis bullosa.

The results of paraffin gauze dressing and lyophilised polyurethane membrane dressing were studied in a patient with surgically-separated pseudosyndactyly of dystrophic epidermolysis bullosa. Polyurethane membrane dressing decreased the time to epithelialisation and the need for anaesthesia.     

Chronic leg ulcers as a rare cause for the first diagnosis of epidermolysis bullosa dystrophica

Chronic leg ulcers occur most frequently in the elderly population as a result of an underlying vascular disease especially chronic venous insufficiency. But it also occurs less commonly in younger people due to other aetiologies, for example, infections, vasculitis, neoplasia or genetic diseases. The following case report presents chronic leg ulcers as a rare cause for the first diagnosis of dystrophic epidermolysis bullosa. We report about a 21‐year‐old man with painful chronic leg ulcers resistant to different wound treatments for 4 months. After exclusion of the more common vascular aetiologies and reviewing the patient's family history, we considered an epidermolysis bullosa dystrophica which could be confirmed by genetic analyses. We treated the patient with debridement, modified negative pressure therapy with non‐adhesive foil and skin grafting. The chronic leg ulcers healed completely. This case report demonstrates that the family history and genetic diseases should be considered as rare causes for therapy‐refractory chronic leg ulcers, especially in young patients.     

Congenital pyloric atresia and epidermolysis bullosa letalis in premature siblings

Epidermolysis bullosa letalis has been associated with congenital pyloric atresia in an autosomal recessive syndrome. This report documents the second occurrence in premature siblings. Our review indicates that it is a lethal condition with death due to the septic complications of epidermolysis bullosa letalis. Surgical management of pyloric atresia should be withheld until the severity of the epidermolysis is known. Skin biopsy to document the type of epidermolysis bullosa is imperative as only the letalis form is documented to be lethal. The risk for subsequent siblings is 25% and parents should undergo genetic counseling. Prenatal diagnosis of epidermolysis bullosa letalis can be made by fetoscopic skin biopsy. We suggest nonoperative management of pyloric atresia unless the skin disease is responsive to treatment.     

Musculoskeletal manifestations of the Antley-Bixler syndrome

The Antley-Bixler syndrome is a rare disorder with many musculoskeletal anomalies that demand orthopedic assessment. The syndrome includes skeletal, craniofacial, and urogenital anomalies. The most common skeletal deformities are radiohumeral synostosis, craniosynostosis, multiple joint contractures, and arachnodactyly. Other orthopedic manifestations that may occur are femoral bowing, ulnar bowing, camptodactyly, synostoses of carpal and tarsal bones, clubfoot, vertebral body anomalies, perinatal fractures, and advanced skeletal age. The inheritance pattern is thought to be autosomal recessive. A patient with this syndrome is described, which is the 18th of 24 reports published in the world literature. This case is compared with the other reported cases.