Reconstruction with free jejunal flap in dystrophic epidermolysis bullosa complicated with hypopharyngeal cancer: A case report.

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.

[Anesthesia for dental care management in children with dystrophic epidermolysis bullosa]. / Anesteziologicheskoe obespechenie stomatologicheskikh vmeshatel'stv u detei s distroficheskim bulleznym epidermolizom.

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.

Hand surgery in recessive dystrophic epidermolysis bullosa: Our experience with dermal substitutes.

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.

Transplantation of autologous single hair units heals chronic wounds in autosomal recessive dystrophic epidermolysis bullosa: A proof-of-concept study.

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.

Surgical management of hand deformities in patients with recessive dystrophic epidermolysis bullosa.

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.

Cultured Epidermal Autografts from Clinically Revertant Skin as a Potential Wound Treatment for Recessive Dystrophic Epidermolysis Bullosa.

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.

Effectiveness of gastrostomy for improving nutritional status and quality of life in patients with epidermolysis bullosa: a systematic review.

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.

Long-Term Follow-Up of Amniotic Membrane Graft for the Treatment of Symblepharon in a Patient With Recessive Dystrophic Epidermolysis Bullosa.

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.

Feasibility, efficacy, and safety of ultrasound-guided axillary plexus blockade in pediatric patients with epidermolysis bullosa dystrophica.

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.

Management of inflammatory corneal melt leading to central perforation in children: a retrospective study and review of literature.

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.

Case report: rapidly healing epidermolysis bullosa wound after ablative fractional resurfacing.

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.

Urological surgery in epidermolysis bullosa: tactical planning for surgery and anesthesia.

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.

Urological surgery in epidermolysis bullosa: tactical planning for surgery and anesthesia

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.

Epidermólise bolhosa distrófica: aspectos dermatológicos e cirúrgicos / Dystrophic epidermolysis bullosa: dermatological and surgical aspects

A epidermólise bolhosa é uma doença hereditária que causa alterações em proteínas estruturais da pele e consequente fragilidade da epiderme. Manifesta-se por surgimento de flictenas por todo o corpo e deformidades funcionais de membros, especialmente nas mãos, sendo que as formas mais características são pseudossindactilia e contraturas. Neste trabalho, descrevemos o caso de um paciente de 12 anos com deformidades nas mãos e flictenas pelo corpo que foi submetido à cirurgia da mão para recuperação da movimentação funcional (AU)

Epidermolysis bullosa is a hereditary disease that causes changes in structural proteins of the skin and consequent fragility of the epidermis. It is manifested by the appearance of blisters all over the body and functional deformities of limbs, especially the hands, and the most characteristic forms are pseudosyndactyly and contractures. In this paper, we describe the case of a 12-year-old patient with deformities in his hands and blisters over the body who underwent hand surgery for recovery of functional movement (AU)

Suprathel(®) -assisted surgical treatment of the hand in a dystrophic epidermolysis bullosa patient.

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.