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.

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.

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.

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.

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.

Cell-based therapies for epidermolysis bullosa - from bench to bedside.

Significant progress has been made over the past two decades in molecular genetics of epidermolysis bullosa (EB), a group of heritable blistering disorders, with diagnostic and prognostic implications. More recently, novel molecular approaches have been developed towards potential treatment of EB, with emphasis on gene-, protein-, and cell-based strategies. This overview highlights cell-based approaches that have recently been tested in pilot clinical trials, attesting to the potential of regenerative medicine for blistering skin diseases.

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.

Application of the procedural consolidation concept to surgical treatment of children with epidermolysis bullosa: a retrospective analysis.

AIM: To assess the efficacy of the procedural consolidation concept (PCC) at reducing the number of sessions of general anesthesia necessary for treating children with epidermolysis bullosa (EB). METHODS: We examined the records of children treated at Children's Hospital of Zagreb between April 1999 and December 2007. Children treated before the introduction of PCC in January 2005 (n=39) and after (n=48) were analyzed in order to determine the effect of PCC on the occurrence of complications, days of hospitalization, and number of hospitalizations. RESULTS: During the study period, 53 patients underwent 220 sessions of general anesthesia for a total of 743 surgical interventions per session. Before the introduction of PCC (n=39 patients, 83 sessions), the median number of interventions per session was 2 (range 1-5), and after the introduction of PCC (n=48 patients, 137 sessions) it was 4 (range 3-7, P<0.001). After the introduction of PCC, the median number of complications per anesthesia session increased from 2 (range 0-10) to 3 (range 0-10) (P=0.027), but the median number of complications per surgical procedure decreased from 1 (range 0-10) to 0.6 (range 0-2.5) (P<0.001). PCC lengthened each anesthesia session from a median of 65 minutes (range 35-655) to 95 minutes (range 50-405), (P<0.001). Total length of hospitalization was similar before (median 1, range 1-4) and after (median 1, range 1-3) introduction of PCC (P=0.169). The number of hospitalization days per procedure was 3 times lower after the introduction of PCC (median 0.3, range 0.2-3) than before (median 1, range 0.75-1.7) (P<0.001). CONCLUSION: PCC should be considered an option in the surgical treatment of children with EB.

What's new in dermatology: epidermal stem cells.

The study of stem cells in the epidermis is a rapidly emerging field. Great advances have been made in both basic and clinical research. Advances in basic science include the ability to assay stem cells of the epidermis in vivo, new strong evidence for the existence of an independent interfollicular epidermal stem cell, and improved ability to analyze individual stem cell divisions. Advances in the clinic include recognition of the importance of stem cells for wound repair and for gene therapy and promising results have been obtained in a patient with junctional epidermolysis bullosa over a 12 month period of observation. This article discusses these recent advances in cutaneous stem cell biology.

Percutaneous interventional radiology procedures in patients with epidermolysis bullosa: modifications and challenges.

OBJECTIVE: The purpose of this study is to describe the role of interventional radiology in palliation and maintenance of nutritional support in children with epidermolysis bullosa, with a focus on safety and required procedural modifications. MATERIALS AND METHODS: This was a retrospective study of all patients diagnosed with epidermolysis bullosa who underwent interventional radiology procedures between January 1991 and December 2008 at a pediatric tertiary care institution. The type of epidermolysis bullosa, the patient's age, the indication and type of interventional radiology procedure, modifications used, and complications were recorded. RESULTS: Fifteen patients (9 boys and 6 girls) with a diagnosis of epidermolysis bullosa underwent a total of 87 procedures during 82 different patient interventional radiology visits. Twenty-seven esophageal dilatations for symptoms of dysphagia, 11 percutaneous gastrostomy tube placements resulting from failure to thrive, 30 maintenance procedures, 15 central venous access device insertions, and three other procedures (nasojejunal tube insertion, liver biopsy, and inferior vena cava filter insertion) were performed. Modifications were related to anesthetic management, access, tissue handling, and dressings. Complications were categorized according to Society of Interventional Radiology grades: Minor A (n = 6), Minor B (n = 4), Major C (n = 7), Major D (n = 2), Major E (n = 0), and Major F (n = 0). CONCLUSION: Our experience suggests that interventional radiology procedures can be done successfully and safely when utmost care is given to skin and mucosal protection. Wound healing is adequate and should not deter intervention.

Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer.

Kindler syndrome (KS) is a heritable skin disorder with a complex phenotype consisting of congenital skin blistering, photosensitivity, progressive generalized poikiloderma and extensive skin atrophy. Here we describe 2 siblings with KS, who are, to the best of our knowledge, the oldest patients reported so far in the literature. The diagnosis was established in their seventh and eighth decades of life, and confirmed by mutation analysis. Both patients were homozygous for the recurrent FERMT1 mutation, c.328C→T, p.R110X. Because of a relatively mild course of the disease, mucosal membranes in the eyes and oesophagus being predominantly affected in recent years, they had been treated under other diagnoses, such as scleroderma. Cutaneous precancerous lesions and epithelial skin cancer arose in both siblings after the age of 50 years and were treated in an early stage. Taken together, we describe the natural course of KS, the morphological abnormalities occurring in the skin of older KS patients, we discuss the differential diagnosis and the association between KS and squamous cell carcinoma.

Kindler syndrome causing severe cicatricial ectropion.

A 32-year-old female with Kindler syndrome presented with a 5-year history of lower eyelid malposition, corneal exposure, and recurrent erosions. Severe anterior lamellar cicatricial changes were noted bilaterally, with bilateral lower eyelid ectropion and retraction. Tarsal eversion was noted on the left lower eyelid. The patient had repeatedly failed conservative treatments for keratopathy and was treated surgically, with resolution of corneal disease and improved lower eyelid position. A review of Kindler syndrome is provided, geared toward the oculoplastic surgeon who may participate in the care of these patients.

Anesthetic management of epidermolysis bullosa: a review and report of two cases.

Dystrophic epidermolysis bullosa is a rare genetically mechanobullous disorder, characterized by an excessive susceptibility of the skin and mucosa to separate from the underlying tissues after mechanical trauma. Avoiding mechanical stimulation of the skin and mucous membranes is essential in the anesthetic management. These case reports describes bilateral nerve block in two patients with an anticipated airway difficulty due to epidermolysis bullosa. We report the successful applications of intraoperative indirect electrocardiogram monitoring without electrodes and bilateral axillary and midhumeral nerve block using levobupivacaine in combination with lidocaine in patients who had previously undergone repeated general anesthesia. We conclude that regional anesthesia should be preferred in patients with dystrophic epidermolysis bullosa, especially those who had previously undergone repeated general anesthetic procedures.