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Epidermolysis bullosa (EB) encompasses a range of rare genetic dermatological conditions characterized by mucocutaneous fragility and a predisposition to blister formation, often triggered by minimal trauma. Blisters in the pharynx and esophagus are well-documented, particularly in dystrophic EB (DEB). However, there have been few reports of mucocutaneous squamous cell carcinoma (SCC) in the head and neck region, for which surgery is usually avoided. This report presents the first case of free jejunal flap reconstruction after total pharyngolaryngoesophagectomy for hypopharyngeal cancer in a 57-year-old patient with DEB. The patient with a known diagnosis of DEB had a history of SCC of the left hand and esophageal dilatation for esophageal stricture. PET-CT imaging during examination of systemic metastases associated with the left-hand SCC revealed abnormal accumulation in the hypopharynx, which was confirmed as SCC by biopsy. Total pharyngolaryngoesophagectomy was performed, followed by reconstruction of the defect using a free jejunal flap. A segment of the jejunum, approximately 15 cm in length, was transplanted with multiple vascular pedicles. The patient made an uneventful recovery postoperatively and was able to continue oral intake 15 months later with no complications and no recurrence of SCC in the head and neck region. While cutaneous SCC is common in DEB, extracutaneous SCC is relatively rare. In most previous cases, non-surgical approaches with radiotherapy and chemotherapy were chosen due to skin fragility and multimorbidity. In the present case, vascular fragility and mucosal damage of the intestinal tract were not observed, and routine vascular and enteric anastomoses could be performed, with an uneventful postoperative course. Our findings suggest that highly invasive surgery, including free tissue transplantation such as with a free jejunal flap, can be performed in patients with DEB., (© 2024 Wiley Periodicals LLC.)

Competing Interests: Conflicts of interest None disclosed.

Background: Deformities of the hands occur in most patients with recessive dystrophic epidermolysis bullosa. All structures of the hand may be involved. To restore hand function, it is necessary to identify the proper method of treatment., Patients and Methods: We conducted a retrospective review of 18 patients for a total of 30 surgically treated hands. The data were collected between 1998 and 2016 at Hôpital Necker Enfants Malades (Paris, France) and Institut de la Main (Paris, France). The postoperative follow-up period ranged between 22 months and 168 months, with an average duration of 76 months. The procedure performed on all of these patients involved a first web release for the thumb and pseudosyndactyly release for the remaining digits. A full thickness skin graft was used at the level of the first commissure and palm of the hand, while acellular dermal substitutes (Integra® or Matriderm®) were used to cover the remaining commissures, digits, and the remainder of the hand, followed by a split thickness skin graft. Postoperative rehabilitation ensued., Results: Long-term results are encouraging, demonstrating maintenance of function greater than 3 years in 57% of cases, and greater than 5 years in 33% of cases., Conclusion: We believe that good surgical technique followed by good rehabilitation, combined with an interdisciplinary overall management of these patients, allowed us to succeed in maintaining a very satisfactory, esthetic, and functional result exceeding 5 years for one-third of patients. The resultant psychological benefit is very important., Competing Interests: Declaration of Competing Interest None declared., (Copyright © 2021 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.)

The Aim of the Study: Was to summarize our experience in dental treatment of children with dystrophic epidermolysis bullosa (DEB) under deep intravenous sedation., Material and Methods: The study comprised 11 DEB patients aged 2-17 years who received full oral rehabilitation under deep sedation in Hospital Pediatric Dentistry department of the Central Research Institute of Dentistry and Maxillofacial Surgery in 2021-2022. Intravenous induction was used if a child already had venous access installed or it was feasible before sedation. If not the case inhalation induction with sevoflurane was performed for vein catheterization. Sedation was sustained by propofol infusion up to aimed concentration. Both dental treatment and extractions were carried out., Results: In 11 children 37 teeth were treated and 14 extracted. Mean duration of the procedure under deep sedation was 53 min (30-190 min). In two children multiple dental extractions resulted in extensive oral mucosa injury with bullae and erosions formation in vermillion, cheeks, and hard palate areas. No skin injuries, airway obstruction or long-term complications of both anesthesiologic an dental procedure were observed. The paper describes main preventive measures minimizing risks of skin and mucosa adverse events., Conclusion: Intravenous sedation with spontaneous respiration allows full oral rehabilitation in DEB children with minimal risks of skin and mucosal injury associated with intubation techniques when performing described preventive measures. Use of cofferdam is crucial for success and safety of the procedure as it prevents water, dust and dental fragments contamination of oropharynx which is especially important in case of sedation with spontaneous respiration.

Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is characterized by recurrent mucocutaneous blistering with non-healing ulcers which are often complicated by squamous cell carcinoma (SCC). Despite having as high as 80% death rate from SCC, RDEB still does not have an effective treatment. We report on the efficacy of single follicular unit extract (FUE) grafting to heal chronic ulcers of intermediate RDEB in a 54-year-old woman with extensive chronic wounds covering around 30% of the body surface area. On Day 17 post first graft session, the area of treated ulcers on her right upper back was reduced by 80%. Immunofluorescence study revealed positive type VII collagen expression along the epidermal and follicular basement membrane zone in the donor and recipient sites. A few grafted follicles continued to grow hair on the recipient sites. A total of 360 FUEs were grafted in nine sessions over five years, resulting in healing of most treated ulcers and reduced significantly her time for daily wound dressing. Importantly, FUE grafting using patient's own scalp follicles does not require any laboratory manipulation. It is safe and easy to perform. Autologous follicular grafting appears efficacious for healing of recalcitrant wounds and provides an innovative solution for RDEB patients with such wounds., (Copyright © 2020 Tissue Viability Society. Published by Elsevier Ltd. All rights reserved.)

Recessive dystrophic epidermolysis bullosa (RDEB) is a congenital disease caused by a mutation in the COL7A1 gene and frequently results in hand contractures and pseudosyndactyly. Although multiple treatments exist that can improve the hand malformations, there are currently still no radical cures for this disease because of its high recurrence rate. The present study reports our experiences on how to improve hand deformities in 11 RDEB patients with surgical management and postoperative skin dressings. Hand function was substantially improved after complete release of pseudosyndactyly and achievement of favorable digital web spaces. Patients were followed up for two years, and nine of which showed slight decrease in hand function characterized by re-narrowed web spaces, digit adhesion and flexed metacarpophalangeal (MP) and interphalangeal (IP) joints, while the last two patients underwent hand reoperation one year after their initial surgery because of recurrence. In conclusion, our results show that surgical correction followed by skin dressing changes is an effective approach to improving mitten-hand malformations in RDEB patients.

Inherited skin disorders have been reported recently to have sporadic normal-looking areas, where a portion of the keratinocytes have recovered from causative gene mutations (revertant mosaicism). We observed a case of recessive dystrophic epidermolysis bullosa treated with cultured epidermal autografts (CEAs), whose CEA-grafted site remained epithelized for 16 years. We proved that the CEA product and the grafted area included cells with revertant mosaicism. Based on these findings, we conducted an investigator-initiated clinical trial of CEAs from clinically revertant skin for recessive dystrophic epidermolysis bullosa. The donor sites were analyzed by genetic analysis, immunofluorescence, electron microscopy, and quantification of the reverted mRNA with deep sequencing. The primary endpoint was the ulcer epithelization rate per patient at 4 weeks after the last CEA application. Three patients with recessive dystrophic epidermolysis bullosa with 8 ulcers were enrolled, and the epithelization rate for each patient at the primary endpoint was 87.7%, 100%, and 57.0%, respectively. The clinical effects were found to persist for at least 76 weeks after CEA transplantation. One of the three patients had apparent revertant mosaicism in the donor skin and in the post-transplanted area. CEAs from clinically normal skin are a potentially well-tolerated treatment for recessive dystrophic epidermolysis bullosa., (Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved.)

Individuals with epidermolysis bullosa (EB) may present with a broad spectrum of growth impairment and multiorgan disorders, with compromised nutritional status and quality of life. The provision of nutrients through a gastrostomy tube may minimize EB-related malnourishment but may also result in skin injuries and infections. In this systematic review we consider the current evidence about the effectiveness of gastrostomy in restoring nutritional status and improving quality of life in patients with EB. Seven studies (n = 146) met selection criteria and patients ranged in age from 6 weeks to 33 years of age. Although it is not a risk-free procedure, the placement of a gastrostomy tube is a feasible and safe alternative to provide nutritional support and to improve the quality of life of patients., (© 2017 British Association of Dermatologists.)

Purpose: To report a case of symblepharon due to epidermolysis bullosa (EB), surgical treatment, and follow-up to 14 years., Methods: A 17-year-old white female with recessive dystrophic EB presented with decreased vision due to extensive symblepharon OU. There was opacification and neovascularization of the cornea OU with limited motility., Results: The symblepharon was surgically lysed, anterior lamellar keratectomy performed, and amniotic membrane graft transplanted to the cornea and palpebral conjunctiva, first in the OS and subsequently in the OD. Visual acuity improved from counting fingers to 20/40 in the OS and from 20/200 to 20/70 in the OD at 2 months and 6 weeks postoperatively, respectively, with minimal symblepharon, mild corneal scarring, neovascularization, and haze of OU. She recovered full ductions, but noted diplopia and had a 35 prism diopter exotropia. Symblepharon resolved after 6 months, and alignment improved to 4 prism diopter exophoria. At 14 years follow-up, visual acuity was 20/20 in the OD and 20/30 in the OS, with clear cornea, maintained on fluorometholone 0.1% one drop OU at bedtime., Conclusions: Surgical symblepharolysis, superficial lamellar keratectomy, and amniotic membrane graft transplantation were effective for our patient with recessive dystrophic EB. Her postoperative exotropia resolved over time with monitoring and convergence exercises.

Purpose: To assess the outcome of early therapeutic penetrating keratoplasty (PKP) for corneal melt leading to perforation in children., Methods: Case notes of all the consecutive patients presenting with acute corneal perforation that underwent urgent therapeutic PKP between 2000 and 2010 to the practice of one of the authors, both NHS at Great Ormond Street Hospital for Children and private, were retrospectively reviewed. Onset of perforation, underlying cause, medical and surgical treatment, pre- and post-operative visual acuity, graft clarity, length of follow-up, and post-operative complications were recorded., Results: Four eyes of four consecutive patients (mean age of 9.5 years and median 8.5 years, range 4-17 years) were treated for acquired acute onset corneal perforations. There were three females and one male. Etiologies included herpes simplex keratitis secondary to immune recovery disease post bone marrow transplantation, acanthamoeba keratitis, recessive dystrophic epidermolysis bullosa, and blepharokeratoconjunctivitis with acne rosacea. Pre-operative visual acuity ranged from hand movements to 6/150. All the patients had severe anterior chamber inflammation. All eyes improved in visual acuity ranging from 6/9 to 6/18 with clear grafts at last follow-up. There was no recurrence of melt or perforation. Mean follow-up was 67 months (median 44 months)., Conclusion: PKP during the acute phase together with aggressive medical therapy and close follow-up may achieve good visual outcomes in children with corneal melt with perforation and should be considered. Waiting may sometimes allow the marked inflammatory response seen in children to cause irreversible structural and/or functional damage.

Background: In patients suffering from epidermolysis bullosa dystrophica (DEB), the most severe form of epidermolysis bullosa, trauma or friction cause separation of the skin from underlying tissue with consecutive painful blisters, scarifications, contractures, and pseudosyndactyly. To retain functionality of the hands surgical procedures are necessary. Anesthesia is challenging as difficult airways make general anesthesia risky. Regional anesthesia is considered controversial in patients with EB as accidental subcutaneous injections can cause severe blisters. As ultrasound-guided procedures became standard of care this might have changed however., Aim: In this case series, we describe feasibility, efficacy, and safety of ultrasound-guided plexus axillaris block in DEB patients undergoing hand surgery., Method: We performed a retrospective analysis of the charts of all children with DEB undergoing hand surgery under plexus axillaris block and sedation between 2009 and 2013 in our institution., Results: Nineteen procedures in nine children were performed. Induction of anesthesia (securing monitoring, sedation, plexus block) took a mean time of 34 min. Perioperative analgesia was adequate in all procedures. No complications such as airway incidents, conversion to general anesthesia, movement during surgery, incomplete block, or formation of new blisters were seen., Conclusion: Ultrasound-guided plexus axillaris block in DEB patients undergoing hand surgery in our institution has been feasible, effective, and safe., (© 2016 John Wiley & Sons Ltd.)

Recessive dystrophic epidermolysis bullosa (RDEB) is a devastating genodermatosis characterized by generalized skin fragility, severe blistering, and wounding that heals with mutilating scarring. Patients are in constant need of effective wound therapies as they often succumb to aggressive metastatic squamous cell carcinomas or to sepsis that may develop from their chronic wounds. Herein, we demonstrate accelerated wound healing with use of a fractionated CO2 laser protocol in a 22-year-old man with RDEB. His 9-month-old, non-healing wound decreased from 7 cm in diameter to 2 cm in diameter (a 92% reduction in wound surface area) within 4 weeks of a single laser treatment, and he had near-complete re-epithelialization within 4 weeks of his second laser treatment without blistering or other adverse effects. This novel intervention of using fractionated CO2 for photo-microdebridement could help revolutionize wound care for patients who have RDEB and whose chronic wounds serve as one of their greatest sources of morbidity and mortality. Dissemination to a pediatric audience is critical so that laser protocols might be more thoroughly investigated and incorporated into wound management strategies for this uniquely vulnerable population., (Copyright © 2015 by the American Academy of Pediatrics.)

Background: Epidermolysis bullosa (EB) is a group of inherited, mechanobullous disorders caused by mutations in various structural proteins in the skin. The manifestation of these disorders in the hand is of digital contractures and pseudosyndactyly or "cocoon hands," causing significant functional impairment.Our preferred surgical treatment of these patients involves separation of the digits from the palm by releasing the finger flexion contractures and separating them, primarily the adducted thumb. However, recurrence is common. Our hypothesis was that functional improvement is gained irrespective of recurrence of contractures., Methods: We retrospectively evaluated 4 patients, 2 male and 2 female, whose average age was 11 years, treated surgically by the separation of all their digits and by coverage with skin grafts. The follow-up period was between 1 and 3½ years., Results: Partial recurrence of the deformity was observed in all patients. Recurrence was more pronounced in the nondominant hand, especially between the digits and of flexion contractures, but did not preclude the use of precision or oppositional pinch at final follow-up. The patient with the longest follow-up has been referred for revision surgery to gain further release of contractures.Significant rehabilitation goals were achieved in all 4 patients after surgery. After 6 months, both of the younger patients were measured for finger dexterity, which showed lower scores than the norm, although this was felt to be dependent on which daily manual activities they were more familiar with. These tests could not have been performed before surgery., Conclusions: All patients and families felt the effort was worthy. Separating the thumb and straightening the digits was found to be significant, yet the indication for separating all the digits is debatable. The need for revision surgery, to maintain the digit function, is clear., Level of Evidence: Level 4, case series.

Epidermolysis bullosa (EB) is a progressive familial disorder composed of dermal mucosal blisters, flexion contractures and pseudosyndactylies. Flexion contractures and pseudosyndactyly can be treated with surgery but usually require skin grafting. Because of poor wound healing, skin graft harvesting is a challenge in these patients. In order to prevent donor-site morbidities due to skin graft harvesting some alloplastic materials were introduced. In this study, we focused on Suprathel(®) as a new allograft material for covering the skin defects of a patient with dystrophic EB., (© 2014 The Authors. International Wound Journal © 2014 Medicalhelplines.com Inc and John Wiley & Sons Ltd.)

Epidermolysis bullosa (EB) is characterized by extreme fragility of the skin and mucosae. Anesthetic and surgical techniques have to be adapted to those children and routine practice may not be adequate. Urological problems are relatively common, but surgical techniques adapted to those children have not been well debated and only low evidence is available to this moment. Herein we discuss the specifics of anesthetic and surgical techniques chosen to treat a six year old EB male presenting with symptomatic phimosis.

Human umbilical cord blood (CB)-derived unrestricted somatic stem cells (USSCs) have previously been demonstrated to have a broad differentiation potential and regenerative beneficial effects when administered in animal models of multiple degenerative diseases. Here we demonstrated that USSCs could be induced to express genes that hallmark keratinocyte differentiation. We also demonstrated that USSCs express type VII collagen (C7), a protein that is absent or defective in patients with an inherited skin disease, recessive dystrophic epidermolysis bullosa (RDEB). In mice with full-thickness excisional wounds, a single intradermal injection of USSCs at a 1-cm distance to the wound edge resulted in significantly accelerated wound healing. USSC-treated wounds displayed a higher density of CD31(+) cells, and the wounds healed with a significant increase in skin appendages. These beneficial effects were demonstrated without apparent differentiation of the injected USSCs into keratinocytes or endothelial cells. In vivo bioluminescent imaging (BLI) revealed specific migration of USSCs modified with a luciferase reporter gene, from a distant intradermal injection site to the wound, as well as following systemic injection of USSCs. These data suggest that CB-derived USSCs could significantly contribute to wound repair and be potentially used in cell therapy for patients with RDEB.

We present the case of a patient suffering from dominantly inherited dystrophic epidermolysis bullosa and followed over a period of ten years. Skin lesions of this patient have been treated with multiple thin skin grafts applied over Integra®. The experience proved that, in order to have a perfect graft take, it was necessary to remove all the affected tissues, which includes an abnormally thickened dermis, and also a portion of the subcutaneous tissue., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

Purpose: To describe the rehabilitation with implants placed simultaneously with particulated bone graft in 4 patients diagnosed with recessive dystrophic epidermolysis bullosa., Materials and Methods: A retrospective study was conducted of 4 patients diagnosed with recessive dystrophic epidermolysis bullosa and treated with dental implants and simultaneous particulate bone graft from January 2005 to December 2009. All patients had marked oral involvement, with devastating alterations in the soft and hard tissues and were rehabilitated with a fixed prosthesis., Results: Eighteen implants showed dehiscence or fenestration and were placed simultaneously with particulated bone grafts to cover exposed threads: 14 received autologous bone and 4 tricalcium betaphosphate. In 16, the bone graft was covered with resorbable collagen membranes and in 2 with a nonresorbable titanium-reinforced membrane. Of the 18 implants, 8 were placed in the maxilla combining drills and osteotomes and 10 in the mandible with the conventional drilling procedure. All implants survived after a minimum follow-up of 12 months (range 12 to 48)., Conclusions: The results of this small-sample clinical study suggest that endosseous implants can be placed simultaneously with particulated bone graft, providing support for a fixed prosthesis in patients with recessive dystrophic epidermolysis bullosa and considerably improving these patients' quality of life., (Copyright © 2012 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.)

Purpose of Review: There have been many new developments in therapeutic modalities for the treatment of pediatric dermatological diseases in the past year. Advances in the treatment of atopic dermatitis, psoriasis, infantile hemangiomas and dystrophic epidermolysis bullosa will be discussed. The following review will update the reader on these exciting new possibilities for patient care and future directions for research to improve the lives of children suffering from skin diseases., Recent Findings: This review will discuss recent articles describing the use of topical tacrolimus for maintenance of remission in atopic dermatitis, utility of nurse educators in atopic dermatitis, safety and efficacy of etanercept for the treatment of psoriasis in children, narrow band ultraviolet B phototherapy for atopic dermatitis and psoriasis, use of topical timolol for infantile hemangiomas and bone marrow transplantation for dystrophic epidermolysis bullosa., Summary: There are many new interesting, potentially useful therapeutic modalities emerging in pediatric dermatology. New treatments for atopic dermatitis, psoriasis, infantile hemangiomas and dystrophic epidermolysis bullosa are reviewed.

Purpose: Recessive distrofic epidermolysis bullosa creates severe hand deformities with disabling functional limitations. Hand surgeon should perform surgery when deformity inibits function, in order to restore the pinch., Materials and Method: We present our experience on 44 patients and 58 operated hands, with the following schema: hand degloving, grafting of the first web and intraoperative dynamic splinting., Results: In 30 patient with an 8 years follow up, 25 had had good or excellent results, and the 5 remaining shows early recurrence., Conclusion: Association of a correct surgical approach and adequate intra and post-operative rehabilitation improve hand function and a slow down inevitable recurrence.

Background: Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited blistering skin disorder caused by mutations in COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils in the dermo-epidermal junction. The development of cutaneous squamous cell carcinoma (SCC) is one of the most serious complications of this disease. We report herein a Chinese patient with the severe generalized subtype of RDEB (RDEB-sev gen) complicated by SCC., Methods: Skin biopsies were examined for histology, basement membrane ultrastructure, and type VII collagen expression. Genomic DNA was extracted from the peripheral blood samples and subjected to polymerase chain reaction amplification and direct automated DNA sequencing., Results: Histopathological examination of the patient's skin revealed an undetectable expression of type VII collagen polypeptides in the basement membrane zone. Mutation analysis identified a novel splice site mutation in intron 64 (IVS64+5g->a) of COL7A1 gene, which resulted in an in-frame deletion of exon 64 in both alleles., Conclusions: This report contributes to the expanding database of COL7A1 mutations and emphasizes the need to elucidate the underlying genetic mechanisms associated with the increased incidence of SCC in RDEB patients., (© 2011 The International Society of Dermatology.)

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.

Surgical treatment of hand contractures and pseudosyndactyly in Epidermolysis bullosa poses numerous medical and hospital management problems. For instance, the exceptional fragility of genetically defective epidermis may contribute to iatrogenic trauma or hamper and prolong healing. The interval between unavoidable contracture recurrences rarely exceeds 2 years; therefore, a search for quick treatment completion should be considered by the surgical teams. Because this goal is rarely achieved, even efforts aimed at facilitating operative procedures and improving patient comfort are often quite valuable. This study presents the initial results on the use of the Biobrane dressing in six cases with various degrees of hand contracture. Application of the product in the form of gloves was fast and easy, promoted epithelialisation and substantially reduced the risk of iatrogenic trauma during replacement of the dressings. The use of Biobrane also enabled rapid elimination of additional protective dressing layers, exposure of the healing skin and prevention of further epidermal maceration. However, the time and number of necessary procedures under anaesthesia was dependent upon the degree of hand deformity rather than on Biobrane use, so this treatment did not shorten the healing time to less than 4 weeks., (Copyright 2009 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.)

Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited skin disorder caused by mutations in the COL7A1 gene, which encodes collagen VII (COL7). Skin ulcers in RDEB patients are sometimes slow to heal. We describe here the therapeutic response of intractable skin ulcers in two patients with generalized RDEB to treatment with an allogeneic cultured dermal substitute (CDS). Skin ulcers in both patients epithelialized by 3-4 weeks after this treatment. Immunohistochemical studies demonstrated that the COL7 expression level remained reduced with respect to the control skin and that it did not differ significantly between graft-treated and untreated areas. Electron microscopy showed aberrant anchoring fibrils beneath the lamina densa of both specimens. In conclusion, CDS is a promising modality for treatment of intractable skin ulcers in patients with RDEB, even though it does not appear to increase COL7 expression.

This is a review of the management of squamous cell carcinoma in 2 adult patients with recessive dystrophic epidermolysis bullosa. The 2 have undergone 32 excisions of squamous cell carcinoma of the skin and soft tissue with subsequent reconstruction. Multiple strategies for wound closure have been described in this population. We highlight the usefulness of full thickness cadaveric allograft alone, to close wounds in situations when primary closure or donor site availability of autograft is limited or suboptimal.

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.

Recessive dystrophic epidermolysis bullosa (RDEB) is an uncommon and severe disorder characterised by trauma-induced blisters, intractable skin ulcers, scarring, milia, and nail dystrophy. We report the good result of both surgical release of fingers allowing spontaneous epithelisation without skin grafting and post-operative meticulous skin care without splinting, followed-up for one year.

Study Objective: To review anesthesia and pain management in pediatric patients with recessive dystrophic epidermolysis bullosa (RDEB)., Study Design: Retrospective study., Setting: University-affiliated pediatric hospital., Patients: 25 pediatric patients with RDEB had a total of 121 surgical procedures., Measurements and Main Results: Pediatric patients with RDEB could have vesicles and bullae formation in the skin in response to trauma, friction, or pressure. The common surgical procedures for patients with RDEB were balloon dilation of esophageal strictures (38%), pseudosyndactyly release with or without skin graft (27%), postsurgical or skin care related dressing changes (21%), percutaneous endoscopic gastrostomy tube placement (8%), and circumcision (2%). Our anesthetic techniques included general inhalational anesthesia using mask (21%), general anesthesia using endotracheal tube (48%), and intravenous sedation (31%). No death or other major perioperative anesthetic complications occurred in these reported cases., Conclusions: Patients with RDEB can present considerable management issues for the anesthesiologists. Anesthesia and pain management can be carefully delivered with proper preoperative evaluation and preparation for pediatric patients with RDEB.

Dystrophic epidermolysis bullosa is an inherited, blister-forming skin disease. The Hallopeau-Siemens syndrome type is one of the most severe forms. Even minimal trauma to the skin leads to excessive blister formation that always heals with scars because the defect is located in the dermis at the dermoepidermal junction. A genetic defect of collagen VII leads to insufficient or missing anchoring fibrils. The patients suffer from protein loss, anaemia, secondary infections, oesophageal strictures, malignant transformation and hand deformities. These present as pseudosyndactyly, flexion contractures and, in advanced stages, as a mitten-like deformity. This results in the complete loss of function of the hands and consequently to severe psychosocial problems for the young patients. There is no cure for this disease at present, so surgical treatment of the hand deformities is the only option. From 1998 to 2002 seven hands in four patients were operated on in our clinic. Operations included pseudosyndactyly separation, arthrolysis with Kirschner-wire fixation of finger joints, as well as "metacarpolysis" of the thumb. Redressing splints/dressings were applied. Spontaneous epithelialisation was awaited and was complete within four weeks without problems. Afterwards customised silicon splints and cotton gloves are complimented by intensive physiotherapy. There were no serious complications. Recurrence is unavoidable, but we could restore basic hand functions for at least 2.5 years. Postoperative care is important to postpone reoperations. We prefer the most simple operative procedure as described without skin grafts, flaps or keratinocyte transplants, because a comparable outcome is achieved with less trauma and stress for the patients.

Epidermolysis bullosa (EB) is a heterogeneous group of genetically determined skin fragility disorders in which minor trauma leads to blister formation on the skin. One of the most severe forms is Hallopeau-Siemens recessive dystrophic EB which main cause of mortality is squamous cell carcinoma (SCC). Exeresis of SCC leads to a difficult problem about treating the surgical wound. Most of the time, achieving a split-thickness skin graft on these severely affected EB patients is either too difficult or gives poor quality results. In some cases, flaps could be performed but they represent a too aggressive solution. However cutaneous pinch grafting is really adapted to the healing of these wounds. We have reported 4 cases of patients with recessive dystrophic EB complicated with SCC from 30 mm to 270 mm. After surgical excision of these SCC, dressings have been applied until obtaining a good enough floor for achieving a skin graft. The four patients have been treated by cutaneous pinch grafting. Airway management and monitoring have required particular precautions for avoiding anaesthetic related morbidity. We have noticed no adverse effect. A complete healing of good quality has been obtained in all cases (3 to 16 months of follow-up). No recurrence of SCC has been noticed and donors sites have had got a good healing. Relating to the healing of wounds after exeresis of SCC in case of dystrophic EB, cutaneous pinch grafting represents the most reliable solution with a minimum of physical traumatism.

Background: Epidermolysis bullosa (EB) is a family of 23 genetic skin disorders for which treatments are mainly supportive. Graftskin is a bilayered living human skin construct characterized by a normal expression profile of all the genes reported as mutant in EB., Objective: The objective of this study was to evaluate the efficiency and durability of graftskin in the treatment of EB., Methods: A total of 9 children with EB were treated with graftskin. These include EB simplex: Dowling-Meara type (n = 2); Weber-Cockayne type (n = 1); junctional EB-Herlitz type (n = 1); and recessive dystrophic EB (n = 5). Lesions were debrided of epidermis and crusts followed by application of fenestrated graftskin under sterile conditions. Syndactyly hand release for "mitten deformity" was performed after removal of all epidermis under general anesthesia. All treatment sites were dressed with a nonadherent contact layer followed by absorbent foam dressing, roll gauze, and a compression wrap covering and were left intact for 1 week. Graft take was assessed clinically at weeks 1, 2, 4, 12, and 20 to 28. Graft persistence was assessed by electron microscopy and polymerase chain reaction analysis at weeks 4 and 12, and between weeks 20 and 28 on selected cases., Results: A total of 96 sites were treated with 90% to 100% healing observed by 5 to 7 days, and many sites appearing as normal skin by 10 to 14 days. Finger and hand lesions showed 50% to 90% improvement in range of motion over baseline. Two children learned to walk after graftskin treatment of chronic plantar lesions. Two children had improvement in their chronic anemia after graftskin treatment. All patients and/or parents reported rapid pain resolution. Immunologic and genetic studies of graft persistence revealed evidence of donor DNA up to 28 weeks after graftskin application. None of the samples from female patients demonstrated Y chromosome-specific sequence when analyzed by the method of short tandem repeat., Conclusion: The encouraging results reported herein support the hypothesis that graftskin is more than a simple bandage or a source of growth factors to stimulate autologous closure of EB wounds. The improved quality of life and rapid achievement of growth/development milestones we have observed makes this an exciting step forward in the care of the patient with EB.

Dystrophic epidermolysis bullosa (Hallopeau-Siemens, recessive dystrophic epidermolysis bullosa) is a rare inherited disorder of the skin and mucosa, characterized by blistering in response to the slightest mechanical trauma. Healing is associated with scarring and the formation of contractures and milia. Following repetitive trauma (friction), this process leads to severe hand deformities with digits contracted in flexion, the thumb contracted in adduction and pseudo-syndactyly. In advanced cases (as described here), the hands show a mitten-like deformity and digits are encased in an epidermal "cocoon". This results in complete loss of function with major consequences for both the patient's (children's) daily life and their psychosocial development. We demonstrate the advantages of the (simplified) surgical procedure including "de-cocooning"/degloving, syndactyly-release, release of the thumb and the digital joint contractures and Kirschner-wire stabilization. Spontaneous epithelialisation of skin defects proved to be unproblematic and advantageous compared to skin transplantations, flaps, keratinocyte transplantations and other more ambitious procedures. Reviewing the published long-term results of other methods, we favour the procedure described because it simplifies and accelerates the overall treatment. From 1998 to 2001, we treated three children with recessive dystrophic epidermolysis bullosa and five hands were operated. A total number of 23 interventions was necessary (21 x using face masks, 2 x oral intubation). Pseudo-syndactyly (digits II - V, partially or totally) occurred in four hands after six to ten months. Flexion contractures of the digits occurred in two hands after eight to ten months. Limitating adduction contracture of the thumb occurred in two hands after eight to twelve months. Digital function (pinch and grasp) was actually preserved in two hands for 15 to 30 months. An active surgical approach is justified by the gain in functional improvement of the hand - even if only temporary - and, consecutively, by the positive effect on the child's development.

Recessive dystrophic epidermolysis bullosa is still a difficult challenge for surgeons and doctors. Hand retractions are different from burns. The medical team must have a good knowledge of the disease. Surgery must be performed with the collaboration of every member of the team, as well as the family. In young children, complete correction of the retractions is possible. On the other hand, when retractions are present for a long time in children and adolescents, surgery is purely functional. Static and dynamic splints delay recurrences, but their prolonged use presents psychological obstacles in adolescents and adults.

The term epidermolysis bullosa refers to a group of disorders characterized by skin blistering following minor trauma. The hands, because of constant use during normal daily activity, are especially exposed to blistering, with secondary scarring leading to pseudosyndactyly, adduction contracture of the thumb, and flexion or extension contracture of the fingers. The standard surgical approach for the correction of these deformities is based on the incisional release of pseudosyndactyly and contractures, and split skin grafting of the secondary wounds. A simplified approach without skin grafting is presented in this paper. Four children (8 hands) underwent 25 operations over two decades. The results, in terms of postoperative healing and recurrence, were comparable with those of the standard approach involving skin grafting.

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.