Perioperative Management of Congenital Epidermolysis Bullosa.

Congenital epidermolysis bullosa is a rare disease that causes blister formation in areas susceptible to mechanical stimulation. We present the case of a patient with congenital epidermolysis bullosa simplex who underwent thoracoscopic surgery for pneumothorax. The postoperative course was uneventful, and the patient was discharged on postoperative day 5. Crusts developed around the blistered skin, which normalized within 2 months postoperatively. General anesthesia and skin management are critical in thoracoscopic surgery for patients with congenital epidermolysis bullosa simplex.

Hand surgery and hand therapy clinical practice guideline for epidermolysis bullosa.

WHAT IS ALREADY KNOWN ABOUT THIS TOPIC?: Epidermolysis bullosa (EB) causes blistering and scarring of the hands resulting in contractures fused web spaces and altered function. Surgery is needed to release contractures and web spaces and hand therapy is essential to maintain results, approaches for both differ. WHAT DOES THIS STUDY ADD?: These guidelines aim to provide information on the surgical and conservative therapeutic hand management of children and adults diagnosed with EB. They are based on available evidence and expert consensus to assist hand surgeons and therapists in decision making, planning and treatment. They highlight the importance of a holistic multidisciplinary team (MDT) approach, where patient priorities are paramount.

Surgical management and oncological follow-up of cutaneous squamous cell carcinomas arising in epidermolysis bullosa patients.

BACKGROUND: Hereditary epidermolysis bullosa (EB) is a rare genodermatosis characterized by skin fragility and blistering of the skin and mucous membranes in reaction to minimal traumas. The development of cutaneous squamous cell carcinomas (cSCCs) is one of the most common medical complications in junctional and dystrophic forms of the disease. Complete surgical excision of cutaneous tumors represents the gold standard of treatment. However, not only recognition of cSCCs can be challenging in the affected skin but also wound closure after surgical excision poses a great therapeutic challenge in EB patients. The aim of our study was to analyze the postoperative outcomes of such patients in order to have a better knowledge of the main critical issues in their surgical management and oncological follow-up. METHODS: We retrospectively identified a cohort of five EB patients treated at Modena University Hospital. Collected data included patient age and sex, date of cSCC diagnosis, relapses/recurrences, site of the neoplasm, number of surgical interventions, use of dermal substitutes, and postoperative infections. RESULTS: A total of 26 cSCCs were detected in our cohort. Forty-one surgical interventions were necessary to achieve excision of cSCCs with clear margins, varying from 1 to 4 surgical sessions per cSCC. Dermal substitutes were used in most cases but carried a higher infectious risk. CONCLUSIONS: EB patients tend to develop numerous cSCCs that often relapse even after complete excision with clear margins. These results stress the importance of early cSCC diagnosis and strict postsurgical follow-up.

Anesthetic Management of Adults With Epidermolysis Bullosa.

Epidermolysis bullosa (EB) is a group of rare, inherited diseases characterized by skin fragility and multiorgan system involvement that presents many anesthetic challenges. Although the literature regarding anesthetic management focuses primarily on the pediatric population, as life expectancy improves, adult patients with EB are more frequently undergoing anesthesia in nonpediatric hospital settings. Safe anesthetic management of adult patients with EB requires familiarity with the complex and heterogeneous nature of this disease, especially with regard to complications that may worsen during adulthood. General, neuraxial, and regional anesthetics have all been used safely in patients with EB. A thorough preoperative evaluation is essential. Preoperative testing should be guided by EB subtype, clinical manifestations, and extracutaneous complications. Advanced planning and multidisciplinary coordination are necessary with regard to timing and operative plan. Meticulous preparation of the operating room and education of all perioperative staff members is critical. Intraoperatively, utmost care must be taken to avoid all adhesives, shear forces, and friction to the skin and mucosa. Special precautions must be taken with patient positioning, and standard anesthesia monitors must be modified. Airway management is often difficult, and progressive airway deterioration can occur in adults with EB over time. A smooth induction, emergence, and postoperative course are necessary to minimize blister formation from excess patient movement. With careful planning, preparation, and precautions, adult patients with EB can safely undergo anesthesia.

Dermal regeneration template: a new option for the repair of a large surgical defect after mohs surgery in epidermolysis bullosa

La epidermólisis ampollar es un raro trastorno hereditario caracterizado por fragilidad cutánea, formación de ampollas mucocutáneas recurrentes luego de un traumatismo mínimo y cicatrización deficiente de heridas. Además, algunas variantes se han asociado con la aparición de carcinomas espinocelulares. Presentamos el caso clínico de un paciente con epidermólisis ampollar, que presentó un extenso carcinoma espinocelular localizado en cara posterior de brazo. Este fue tratado con cirugía micrográfica de Mohs y el defecto quirúrgico resultante fue reparado aplicando una matriz de regeneración dérmica sobre la herida durante un mes. Posteriormente continuamos con curaciones y ungüento antibiótico sobre la herida dos veces al día, completando la cicatrización con un excelente resultado cosmético y funcional. Enfatizamos en el carácter novedoso de esta opción terapéutica y en su utilidad en pacientes con epidermólisis ampollar.

Epidermolysis bullosa is a rare hereditary disorder characterized by skin fragility, recurrent mucocutaneous blisters following minimal trauma, and compromised wound healing. Moreover, some variants have been associated with squamous cell carcinoma. Following, we present the clinical case of a patient with epidermolysis bullosa, who presented a large squamous cell carcinoma of the arm. It was resected using Mohs micrographic surgery, and the final defect was repaired by applying a dermal regeneration template over the wound for a month. After this period, we continued using cures and antibiotic ointment over the wound twice a day, and healing was completed with excellent cosmetic and functional results. We emphasize the novelty of this therapeutic option, and its usefulness in patients with epidermolysis bullosa.

Epidermolysis Bullosa Patients' Perception of Surgical Wound and Scar Healing.

BACKGROUND: There is limited evidence to suggest patients with epidermolysis bullosa (EB) have more postoperative wound complications than the general population. Despite this, the authors have noted reluctance among some surgeons to operate on these patients. OBJECTIVE: A cross-sectional study was designed to investigate postoperative wound and scar healing outcomes in patients with EB. METHODS: Patients were asked to complete the "Surgical Wound and Scar Healing in EB" questionnaire, and data gathered were analyzed. RESULTS: Forty-six patients completed the questionnaire for a total of 94 different surgical procedures. Five patients reported blistering at the surgical wound site. All 5 had generalized forms of EB. Four patients reported wound infections, and 1 patient reported wound dehiscence. The postoperative scar healed with keloid or hypertrophic scarring after 26% of the reported surgical procedures. CONCLUSION: Blistering at the postoperative site seems to be uncommon and particularly unlikely to occur in localized forms of EB. Postoperative wound infections and dehiscence are uncommon. Patients with EB may have a propensity to develop keloid or hypertrophic scarring. With these data, the authors hope clinicians have greater confidence in referring patients with EB for surgery, and surgeons more reassured about postoperative wound healing.

Management of a rare presentation of Kindler disease with digital constriction bands-Case report.

Kindler disease is a type of epidermolysis bullosa associated with acral blistering, diffuse cutaneous atrophy, poikiloderma, mucosal stenosis, and photosensitivity. This is the first case report in the literature to describe constriction bands associated with Kindler disease causing ischemia of the fingertips requiring urgent release and full-thickness skin grafts. Dermatologists reviewing such patients need to be aware of this condition and refer to a children's hand surgeon early to avoid leaving patients with prolonged periods of pain.

Balloon dilatation in esophageal strictures in epidermolysis bullosa and the role of anesthesia.

Esophageal involvement, which causes stricture, is a complication in epidermolysis bullosa. This causes dysphagia and malnutrition and leads to deterioration of skin lesions in these patients. The charts of 11 patients with epidermolysis bullosa and esophageal stricture who were included into dilatation program between 2003 and 2015 were retrospectively reviewed. Seven of the patients were female and four were male. The median age was 14 (2-32) years. The mean body weight of patients was 27.8 (9-51) kg. The location and number of strictured parts of the esophagus were previously evaluated with upper gastrointestinal contrast study and after that flexible endoscopy was used for dilatation. Eight patients had middle esophageal, three patients had proximal esophageal and one of them had both proximal and middle esophageal strictures. The strictures were dilated 56 times in total (mean 5 times). One patient underwent gastrostomy and was medically followed-up after a perforation occurrence during the dilatation procedure. In a 32-year-old female patient, colon interposition was performed after four dilatations since optimal nutritional and developmental status could not be achieved. The dilatation program of nine patients is still in progress. Seven of them can easily swallow solid food but two of them have some difficulties in swallowing between dilatations. One patient rejected the program and quitted, while one patient refused colon interposition and died because of complications related to amyloidosis during the dilatation program. After resolution of the swallowing problem, skin lesions were observed to heal quickly. Epidermolysis bullosa is a rare cause of dysphagia. Esophageal balloon dilatation with flexible endoscopy is a safe and efficient method in patients with this condition.

Long-term outcome after superficial keratectomy in an infant with epidermolysis bullosa.

A 5-month-old boy presented with a congenital whitish raised lesion in the central cornea of the left eye. The child had a tendency to develop bullous eruptions on the skin with trivial trauma. The patient's father had a similar history of skin lesions. Because the lesion was in the central visual axis, a superficial anterior keratectomy with an amniotic membrane grafting was performed. The lesion healed well, restoring the corneal transparency and resulting in good visual acuity. When the boy was 4 years of age, his cornea was clear, and best-corrected visual acuity in the left eye was 20/60. There was no recurrence of the lesion.

Dental implants in patients with oral mucosal diseases - a systematic review.

To reveal dental implants survival rates in patients with oral mucosal diseases: oral lichen planus (OLP), Sjögren's syndrome (SjS), epidermolysis bullosa (EB) and systemic sclerosis (SSc). A systematic literature search using PubMed/Medline and Embase databases, utilising MeSH and search term combinations identified publications on clinical use implant-prosthetic rehabilitation in patients with OLP, SjS, EB, SSc reporting on study design, number, gender and age of patients, follow-up period exceeding 12 months, implant survival rate, published in English between 1980 and May 2015. After a mean observation period (mOP) of 53·9 months (standard deviation [SD] ±18·3), 191 implants in 57 patients with OLP showed a survival rate (SR) of 95·3% (SD ±21·2). For 17 patients with SjS (121 implants, mOP 48·6 ± 28·7 months), 28 patients with EB (165 implants, mOP 38·3 ± 16·9 months) and five patients with SSc (38 implants, mOP 38·3 ± 16·9 months), the respective SR was 91·7 ± 5·97% (SjS), 98·5 ± 2·7% (EB) and 97·4 ± 4·8% (SSc). Heterogeneity of data structure and quality of reporting outcomes did not allow for further comparative data analysis. For implant-prosthetic rehabilitation of patients suffering from OLP, SjS, EB and SSc, no evidence-based treatment guidelines are presently available. However, no strict contraindication for the placement of implants seems to be justified in patients with OLP, SjS, EB nor SSc. Implant survival rates are comparable to those of patients without oral mucosal diseases. Treatment guidelines as for dental implantation in patients with healthy oral mucosa should be followed.

General treatment and wound management in hereditary epidermolysis bullosa: indication and experience using silver hydrofiber dressing / Tratamento geral e das feridas na epidermólise bolhosa hereditária: indicação e experiência usando curativo de hidrofibra com prata

Introduction: Hereditary epidermolysis bullosa (EB) is a rare disorder characterized by cutaneomucous fragility, with formation of blisters during minimal trauma. Treatment consists of clinical and nutritional support and management of pain and skin lesions. Silver hydrofiber (Aquacel Ag®) is a type of carboxymethylcellulose fiber dressing with silver that can be used in selected cases of EB. Objective: To review the literature on the general treatment and management of cutaneous lesions in congenital EB and evaluate the indication and experience of using silver hydrofiber dressing. Methods: The review included original articles and systematic reviews published between 2009 and 2014. We also selected two patients with congenital EB treated at the Plastic Surgery Division of Hospital das Clínicas of the Faculty of Medicine of Ribeirão Preto at the University of São Paulo. Results: There is a shortage of scientific evidence related to the treatment of skin lesions in congenital EB, with most recommendations being based on expert opinions. Hydrofiber is indicated in most consensuses for wounds with some exudation and has been shown to be more absorbent than alginate. In our experience, there was apparent improved control of pain, bleeding, and hypothermia with the use of hydrofiber, which has the advantage of not requiring daily changes and can remain on the wound for up to two weeks. Conclusions: The general and lesion treatments in EB are challenging. Hydrofiber with silver is a treatment option for wounds in hereditary EB, without the need for daily dressing changes.

Introdução: Epidermólise bolhosa (EB) hereditária é uma desordem rara caracterizada pela fragilidade cutaneomucosa, com formação de bolhas ao mínimo trauma. O tratamento consiste em suporte clínico, nutricional, manejo da dor e das lesões cutâneas. A hidrofibra com prata (Aquacel Ag®) é um tipo de curativo de fibra de carboximetilcelulose e prata que pode ser utilizada em casos selecionados de EB. Objetivo: Revisão da literatura sobre o tratamento geral e o manejo das lesões cutâneas na EB congênita, além de avaliar a indicação e experiência usando curativo de hidrofibra com prata. Métodos: A revisão incluiu artigos originais e revisões sistemáticas, publicados entre 2009 e 2014. Selecionamos ainda dois pacientes com EB congênita tratados na Divisão de Cirurgia Plástica do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo. Resultados: Há escassez de evidências científicas relacionadas ao tratamento das lesões cutâneas na EB congênita, sendo a maioria das recomendações baseadas em opiniões de especialistas. A hidrofibra está indicada na maioria dos consensos para feridas com alguma exsudação e mostrou-se mais absorvente que o alginato. Em nossa experiência, houve aparente melhor controle da dor, do sangramento e da hipotermia com o uso da hidrofibra, que apresenta a vantagem de não necessitar de trocas diárias, podendo permanecer na ferida por até duas semanas. Conclusões: O tratamento geral e das lesões na EB é um desafio. A hidrofibra com prata é uma opção de tratamento para as feridas na EB hereditária, sem necessidade de trocas diárias de curativo.

Management of digestive lesions associated to congenital epidermolysis bullosa.

BACKGROUND: Congenital epidermolysis bullosa (CEB) is a rare genodermatosis. The digestive system is very frequently associated with skin manifestations. Pyloric atresia (PA) and oesophageal stenosis (OS) are considered the most serious digestive lesions to occur.The aim of this work is to study the management and the outcome of digestive lesions associated to CEB in four children and to compare our results to the literature. PATIENTS AND METHODS: A retrospective study of four observations: Two cases of PA and two cases of OS associated to CEB managed in the Paediatric Surgery Department of Fattouma Bourguiba Teaching Hospital in Monastir, Tunisia. RESULTS: Four patients, two of them are 11 and 8 years old, diagnosed as having a dystrophic epidermolysis bullosa since the neonatal period. They were admitted for the investigation of progressive dysphagia. Oesophageal stenosis was confirmed by an upper contrast study. Pneumatic dilation was the advocated therapeutic method for both patients with a favourable outcome. The two other patients are newborns, diagnosed to have a CEB because of association of PA with bullous skin lesions with erosive scars. Both patients had a complete diaphragm excision with pyloroplasty. They died at the age of 4 and 3 months of severe diarrhoea resistant to medical treatment. CONCLUSION: Digestive lesions associated to CEB represent an aggravating factor of a serious disease. OS complicating CEB is severe with difficult management. Pneumatic dilatation is the gold standard treatment method. However, the mortality rate in PA with CEB is high. Prenatal diagnosis of PA is possible, and it can help avoiding lethal forms.

Visual Recovery and Endothelial Cell Survival After Descemet Stripping Automated Endothelial Keratoplasty for Failed Penetrating Keratoplasty Grafts­A Cohort Study.

PURPOSE: To assess visual recovery and donor cell survival after Descemet stripping automated endothelial keratoplasty (DSAEK) for the repair of failed penetrating keratoplasty (PK) grafts. METHODS: Best spectacle-corrected Snellen visual acuity results after DSAEK were compared with best-ever documented visual acuity (BDVA) results obtained with the previous PK graft in a prospective cohort study. Donor cell survival after DSAEK for PK repair was compared with cell survival after DSAEK for Fuchs endothelial dystrophy and pseudophakic bullous keratopathy. Differences in the logMAR best spectacle-corrected Snellen visual acuity and endothelial cell loss rates were calculated. RESULTS: Twenty-eight eyes with DSAEK for PK repair were identified, 21 of which lacked vision-limiting comorbidities. The mean follow-up was 18.4 ± 10.6 months. At 3 months postoperatively, 10/21 eyes (48%) regained their BDVA. By 24 months, only 14% remained with 0.2 logMAR below their BDVA. Endothelial cell counts decreased significantly faster in patients with DSAEK for failed PK (P = 0.024) or pseudophakic bullous keratopathy (P = 0.018) than in patients with DSAEK for Fuchs endothelial dystrophy. CONCLUSIONS: DSAEK for the restoration of failed PK grafts promotes rapid visual recovery within the visual limits of the previous PK graft. Increased endothelial cell loss is noted relative to other DSAEK indications, which may result in earlier endothelial graft failure in renovated PK.

Quality of life among adults with epidermolysis bullosa living with a gastrostomy tube since childhood.

Epidermolysis bullosa (EB) is a rare genetic condition characterized by blistering to the skin and internal mucous membranes arising from mild mechanical trauma. The impact on those affected can be significant. They might have increased nutritional requirements because of blistering, chronic wounds, infection, and loss of exudates, and nutritional intake might be compromised because of oropharyngeal blistering and strictures, resulting in malnutrition in many patients. Placement of gastrostomy tubes can help some patients meet nutritional requirements. We report a recent study on how EB patients and their families approached the issue of whether to have a gastrostomy tube placed and how such tubes affect quality of life. Our findings include important insights for clinicians and families about how patients experience life with a gastrostomy. We show how the process of consent can be improved and how patients with a gastrostomy tube can feel more in control of their lives.

Use of a novel laparoscopic gastrostomy technique in children with severe epidermolysis bullosa.

OBJECTIVE: Supplementing nutrition in children with severe epidermolysis bullosa (EB) is challenging because of skin and mucosal fragility. Percutaneous endoscopic gastrostomy is contraindicated in EB, whereas more invasive open surgical gastrostomy placement can be complicated by chronic leakage. The aim of the study was to review the efficacy and acceptability, in children with severe EB, of our modified 2-port laparoscopic approach using the Seldinger technique with serial dilatation and tube insertion through a peel-away sheath. METHODS: Retrospective review of children with EB who underwent laparoscopic feeding gastrostomy at our centre since 2009. RESULTS: Seven children (6 severe generalised recessive dystrophic EB, 1 non-Herlitz junctional EB; 2 girls, 5 boys) underwent modified laparoscopic gastrostomy placement at median age 4.85 years (range 1.0-8.8), with fundoplication for gastro-oesophageal reflux in 1 case, with follow-up for 0.3 to 3.9 years. The procedure was well tolerated with oral feeds usually given after 4 hours and whole protein gastrostomy feeds within 24 hours in 6 patients. Improved growth was reflected in mean weight and height z scores: -1.36 (range -2.6 to 0.5) to -0.61 (range -2.34 to 2.0) and -1.09 (range -2.42 to 1.0) to 0.71 (range -1.86 to 1.0), respectively. Postoperatively, 5 patients experienced minor local complications: minimal leakage without skin damage in 3 and transient peristomal granulation rapidly responsive to topical treatment in 2; this followed acute gastrostomy site infection in 1. There was no leakage after the immediate postoperative period. CONCLUSIONS: We conclude that our less-invasive laparoscopic gastrostomy technique is effective and better tolerated in children with severe EB, at least in the medium term, than open gastrostomy placement. Longer follow-up is required.

Incontinencia pigmentaria asociada a fisura palatina. Reporte de un caso / Incontinentia pigmenti associated with cleft palate. Report of a case

La incontinencia pigmentaria (IP2, síndrome de Block-Sulzberger) es un raro caso de genodermatosis de herencia ligado a X dominante, afectando en su mayoría a mujeres. Consiste en una serie de manifestaciones de la piel, desordenes dentarios, oculares, neurológicos, y otros. Nosotros presentamos un caso de incontinencia pigmentaria con las clásicas manifestaciones cutáneas asociado a fisura palatina(AU)

Incontinentia pigmenti (IP2, Block-Sulzberger Syndrome) is a rare x-linked dominant genodermatosis mainly affecting females. It consists of characteristic skin manifestations and dental, ocular, neurological, and other disorders. We present a case report with classical cutaneous features diagnosed with incontinentia pigmenti associated with a cleft palate(AU)