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.

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.

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.

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.

Hand surgery for dystrophic epidermolysis bullosa.

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.

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.

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.

[Importance of thorough removal of all affected tissues before grafting epidermolysis bullosa lesions: ten-year follow-up of one patient with multiple grafts]. / Nécessité d'une exérèse complète des tissus lésés dans les épidermolyses bulleuses : suivi sur dix ans d'une patiente multigreffée.

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.

Implants placed simultaneously with particulated bone graft in patients diagnosed with recessive dystrophic epidermolysis bullosa.

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.

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.

New therapies in pediatric dermatology.

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.

[Hand management in recessive dystrophic bullous epydermolysis]. / Il trattamento della mano nel paziente affetto da epidermolisi bollosa distrofica recessiva.

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.

Response of intractable skin ulcers in recessive dystrophic epidermolysis bullosa patients to an allogeneic cultured dermal substitute.

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.

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.

Cadaveric allograft for wound closure after resection of squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa: a report of 32 resections and repairs in 2 patients.

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.

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.