Anaesthetic management of two different modes of delivery in patients with dystrophic epidermolysis bullosa

Dystrophic epidermolysis bullosa is an inherited severe bullous condition characterised by extreme skin fragility and blistering in response to minor trauma. We present two obstetric cases with recessive dystrophic epidermolysis bullosa, one who underwent elective caesarean section, the other who delivered vaginally. The key points in the anaesthetic management of the obstetric patient with dystrophic epidermolysis bullosa include multidisciplinary preassessment, airway management strategies and the role of regional anaesthesia.     

Mitral regurgitation due to mitral valve prolapse associated with epidermolysis bullosa: case report

Mitral valve prolapse (MVP) has been associated with several connective tissue disorders, including Marfan's syndrome, Ehlers-Danlos syndrome, and pseudoxanthoma elasticum. We present a case of MVP in a patient with epidermolysis bullosa. The authors are aware of only one previously reported case of this association. A 49-year-old man with a history of epidermolysis bullosa since childhood was admitted to our institution due to dyspnea on effort. On general examination he was observed to have alopecia, deformities in his nails, and fusions of his fingers. Transesophageal echocardiography confirmed the presence of MVP. In addition, coronary angiography showed three-vessel disease. Mitral valve replacement (ATS valve 25 mm) and coronary artery bypass grafting (left internal thoracic artery-LAD) were performed. The resected mitral valve (anterior leaflet) contained the area of the myxomatous lesion histologically. The pathological mechanism of epidermolysis bullosa is thought to be the destruction of collagen fibers due to increased levels of enzyme collagenase. Therefore there may be a common cause of MVP and epidermolysis bullosa based upon an abnormality of collagen metabolism.     

Living Donor Kidney Transplantation in a Patient With Epidermolysis Bullosa: A Case Report

Severe recessive dystrophic epidermolysis bullosa is a very rare inherited disease with excessive blisters forming starting at birth. Surgical intervention in this population creates a challenge: preventing formation of new lesions while managing previously scarred tissues.We present a case of a 27-year-old patient with end-stage renal disease caused by rapidly progressive IgA nephropathy. Living donor kidney transplantation was performed under local, spinal and epidural anesthesia.Living kidney transplantation in epidermolysis bullosa patients with end-stage renal disease should not be a contraindication for transplantation and should be considered as a viable and feasible option after careful preparation.     

Epidermolysis bullosa of the oesophagus with oesophageal web formation

Marsden, R. A., Sambrook Gowar, F. J., MacDonald, A. F., and Main, R. A. (1974).Thorax, 29, 287-295. Epidermolysis bullosa of the oesophagus with oesophageal web formation. Four members of a family are described with epidermolysis bullosa dystrophica of probable autosomal recessive inheritance. They have shown the typical blistering of the skin and oral mucosa, usually present at birth, which occurs in this uncommon condition. Lesions occur after minor injury and heal slowly with scarring. Abnormalities of the nails and teeth are also present.     

Groin dissections in epidermolysis bullosa: a report of groin dissection for the control of metastatic squamous carcinoma in patients with epidermolysis bullosa.

Epidermolysis bullosa predisposes to the development of squamous cell carcinoma. Despite regular surveillance, the majority of severely affected epidermolysis bullosa patients die from metastatic spread. There are no reports on regional control of metastatic spread. We describe our experience with two cases of groin dissection in epidermolysis bullosa. By anticipating the pitfalls in the perioperative care of patients with epidermolysis bullosa, we feel confident that they should make a full recovery.     

The urological manifestations of epidermolysis bullosa

Epidermolysis bullosa is a rare skin disorder that may at times involve the respiratory, gastrointestinal and genitourinary systems. We report 3 cases of epidermolysis bullosa involving the urinary tract. The radiographic evaluation of this entity and its relationship to other forms of obstructive uropathy are discussed along with a management plan for patients with genitourinary involvement owing to epidermolysis bullosa.     

Inherited epidermolysis bullosa: Case report of finger localization

Inherited epidermolysis bullosa is a rare condition that often present at birth with skin blisters and erosions. They are associated with defective cohesion of the dermis and epidermis. There are 3 principal types: Simple, junctional and dystrophic. The severity of the condition is quite variable. The most severe forms are incompatible with life. The most common types in our country are the severe ones such as the Hallopeau -Siemens subtype. Hands and mucosal areas can develop synechia. We report here a case of dystrophic epidermolysis bullosa in a 27-year-old woman whose finger lesion was managed surgically. This treatment consisted of complete removal of constrictions and adhesions, accompanied by use of a Hueston flap and skin graft to repair the tissue deficit. The patient''s clinical course required several repeat operations. This surgery allowed the possible total loss of hand function to be delayed but the inevitable progression of the illness made the treatment somewhat disappointing. Psychosocial implications are very significant in our setting.KEY WORDS: Congenital, epidermolysis bullosa, fingers     

Anaesthesia for children with epidermolysis bullosa: a review of 20 years' experience

BACKGROUND AND OBJECTIVE: Epidermolysis bullosa is a rare, genetically determined disorder characterized by excessive susceptibility of the skin and mucosa to separate from the underlying tissues after mechanical trauma. Patients suffering from this disease may have multiple medical problems, but the risk of anaesthesia is attributed mainly to oropharyngeal involvement; airway management may be hazardous and preservation of mucosa and skin integrity problematical. There is a paucity of data in the literature concerning the perioperative management of children with epidermolysis bullosa. We present our experience of managing 54 general anaesthetics (and two local anaesthetics) over the past 20 years. METHODS: The case notes of 16 children with epidermolysis bullosa were reviewed. The children underwent surgical procedures under local or general anaesthesia over a 20-year period. RESULTS: Fifty-four general and two local anaesthetics were administered for 58 procedures in 10 children (mean age 12.6 years). Surgical procedures included oesophageal dilatation (24), insertion/revision of gastrostomy (16), dental procedures (10), hand surgery (2), skin biopsy (2) and others (4). Anaesthesia was induced by inhalation in 73.4% of patients and the airway was maintained with an endotracheal tube in 64.8%. Monitoring of anaesthesia was performed with pulse oximetry (89%), whereas electrocardiography and non-invasive blood pressure monitoring were used in 16.6% of cases each. The mean duration of anaesthesia was 64 min. Tracheal intubation was difficult in two of the five children who were intubated. Mucocutaneous blistering occurred in three children, otherwise there was no attributable morbidity. CONCLUSION: With maximal skin and mucous membrane protection, anaesthesia in children with epidermolysis bullosa may be undertaken with few sequelae.     

Squamous cell carcinoma in epidermolysis bullosa

Epidermolysis bullosa (EB) is a group of inherited blistering disorders that are divided into three categories based on the plane of cleavage of the blister, mode of inheritance, and the presence or absence of scars. Squamous cell carcinoma developing in epidermolysis bullosa is rare and presents a therapeutic dilemma. The authors report a case of congenital epidermolysis bullosa with locally advanced squamous cell carcinoma.     

Genitourinary complications of epidermolysis bullosa

Epidermolysis bullosa is a rare inherited bullous disorder of the skin that occasionally involves the urinary tract. We describe a child with a history of epidermolysis bullosa who presented with hematuria, urgency, and dysuria. On radiographic investigation, bladder wall lesions were found. On cystoscopy, these were bullous lesions on the urinary bladder that at biopsy were shown to have inflammatory changes without evidence of malignancy. This is consistent with rare involvement of the bladder in epidermolysis bullosa. Symptomatic treatment resolved this patient's urologic complaints.     

Bruxism secondary to brain injury treated with Botulinum toxin-A: a case report

Polyp originating within a concha bullosa is uncommon; we report only the third such case in the English literature. A 45-year-old man presented with nasal obstruction and headache. Examination of the nose revealed right septal deviation and a hypertrophic left middle concha. Computed tomography confirmed right septal deviation and identified left concha bullosa with thickening of the mucosa covering this lesion. The lateral lamella of the affected turbinate was removed and a mass was excised. Histopathologic examination of the excised mass revealed polypoid hyperplasia. The rare finding of polyp in concha bullosa is discussed with a review of the literature. In any case of concha bullosa, computed tomography images should be carefully evaluated before surgery to check for other pathologies that might have arisen within the lesion.     

Management of urinary tract in children with epidermolysis bullosa.

Epidermolysis bullosa is a group of rare genetic disorders characterized by noninflammatory blistering lesions of the skin occurring after minor mechanical trauma. In association with junctional epidermolysis bullosa, a syndrome of pyloric atresia has occasionally been noted in the literature. Several infants who had this combined disorder have been reported to have severe genitourinary tract involvement. Most of these patients have died at an early age because of severe urinary tract involvement. We describe a rare survivor who was initially treated with urinary diversion. Subsequent attempts at undiversion of this patient were unsuccessful. He is presently stable following rediversion. The entities of e. bullosa and e. bullosa/pyloric atresia are reviewed with emphasis on urologic associations.     

Congenital pyloric atresia and epidermolysis bullosa letalis in premature siblings

Epidermolysis bullosa letalis has been associated with congenital pyloric atresia in an autosomal recessive syndrome. This report documents the second occurrence in premature siblings. Our review indicates that it is a lethal condition with death due to the septic complications of epidermolysis bullosa letalis. Surgical management of pyloric atresia should be withheld until the severity of the epidermolysis is known. Skin biopsy to document the type of epidermolysis bullosa is imperative as only the letalis form is documented to be lethal. The risk for subsequent siblings is 25% and parents should undergo genetic counseling. Prenatal diagnosis of epidermolysis bullosa letalis can be made by fetoscopic skin biopsy. We suggest nonoperative management of pyloric atresia unless the skin disease is responsive to treatment.     

Endoscopic intranasal control of hemorrhage from unexpected ethmoidal hemangioma during conchoplasty: A case report

Introduction and importanceHemangiomas of paranasal sinuses are rare. Unexpected hemangiomas of this region can bleed profusely leading to operative morbidity and mortality. Hemangiomas of paranasal sinuses may be associated with concha bullosa.Case presentationWe report a case of 41-year-old female who presented with difficulty in nose breathing and headache since two years. She was diagnosed with concha bullosa with deviated nasal septum and was planned for endoscopic septoplasty and conchoplasty. During the procedure, profuse, unexpected hemorrhage resulted from the undiagnosed hemangioma which was managed by endoscopic intranasal cauterization of anterior ethmoidal artery.DiscussionHemangiomas of paranasal sinuses such as ethmoidal sinus are rare. These are slow growing tumors and may be radiologically silent. Due to high vascularity of these lesions, it may be very difficult to manage associated bleeding. A sound knowledge of vascular anatomy of this area is important in managing intraoperative complications. Until now, only a few cases of ethmoidal hemangiomas have been reported in association with concha bullosa. Screening for these lesions may be important in patients with concha bullosa.ConclusionSound knowledge of surgical anatomy forms the basis of managing intraoperative complications in endoscopic sinus surgery. Further research should be carried out to find out the association between concha bullosa and ethmoidal hemangioma and patients with concha bullosa should be screened with advanced imaging techniques for such vascular lesions where feasible.     

Pyloric atresia associated with epidermolysis bullosa--three cases presenting in three months

Three neonates presenting with pyloric atresia and epidermolysis bullosa are described in this report. Two babies underwent surgery for pyloric atresia, and 1 of these has survived until 3 months of age with no complications. The clinical presentation and complications of the pyloric atresia-epidermolysis bullosa syndrome are discussed with a brief review of literature.     

CT evaluation of the paranasal sinuses in symptomatic and asymptomatic populations

The frequency of concha bullosa, paradoxical middle turbinate, and septal deviation on coronal computed tomographic scans evaluating sinus disease is known, but the incidence in normal subjects is unknown. We compared 100 consecutive scans performed for evaluation of sinus disease with 82 consecutive scans performed for evaluation of orbital pathology. Patients with sinus disease had significantly more frequent findings of disease in the osteomeatal complex and all sinuses. Concha bullosa was more common in patients with sinus disease (p less than 0.05), as was septal deviation (p less than 0.01). Paradoxical turbinate was equally common. Concha bullosa was associated with anterior ethmoid disease (p less than 0.04). Septal deviation was associated with osteomeatal complex disease (p less than 0.01) and with anterior (p less than 0.04) and posterior (p less than 0.04) ethmoid disease. Paradoxical turbinate was not associated with sinus abnormalities. These data imply a possible causal relationship between concha bullosa or septal deviation and sinus disease.     

Pseudosyndactyly and musculoskeletal contractures in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry, 1986-2002

Mitten deformities of the hands and feet occur in nearly every patient with the most severe subtype (Hallopeau-Siemens) of recessive dystrophic epidermolysis bullosa, and in at least 40-50% of all other recessive dystrophic epidermolysis bullosa patients. Smaller numbers of patients with dominant dystrophic, junctional, and simplex types of epidermolysis bullosa are also at risk of this complication. Surgical intervention is commonly performed to correct these deformities, but recurrence and the need for repeated surgery are common. Higher numbers of epidermolysis bullosa patients also develop musculoskeletal contractures in other anatomic sites, further impairing overall function. Lifetable analyses not only better project the cumulative risk of mitten deformities and other contractures but also emphasize the need for early surveillance and intervention, since both of these musculoskeletal complications may occur within the first year of life.     

Aplasia cutis congenita with epidermolysis bullosa: a case report.

A child with epidermolysis bullosa and aplasia cutis congenita is presented. This is a very rare condition that represents an unusual manifestation of epidermolysis bullosa. Management of aplasia cutis congenita is controversial and may be conservative, surgical, or a combination of the two. In this patient, surgical treatment with split-thickness skin grafts failed, and conservative treatment using silver-sulfadiazine cream dressings was instituted.     

Successful Breast Conservation in a Patient with Epidermolysis Bullosa Simplex

Abstract: Before breast conservation can be offered to a woman with breast cancer one must understand both the indications and contraindications to such an approach. Factors that play a role in this decision include tumor-related factors and factors related to the expected cosmetic outcome following breast conservation. Here we present a case of a woman with epidermolysis bullosa simplex (EBS), a rare skin disorder that is characterized by blister formation following minor trauma, who underwent successful breast conservation.     

Anaesthetic management in patients with epidermolysis bullosa dystrophica

Successful anaesthetic management of two patients with severe epidermolysis bullosa dystrophica was accomplished with the use of ketamine-diazepam dissociative anaesthesia in one and brachial plexus block in the other. The classification and pathology of epidermolysis bullosa is considered, and the problems associated with anaesthesia in patients with this disease are discussed.