Oesophageal involvement in epidermolysis bullosa

Epidermolysis bullosa dystrophica causing oesophageal stricture in two males of a family of 4 siblings--2 females and 2 males, and whose parents are not related, is reported. The stricture was treated with repeated dilatations and oral prednisolone on and off with complete success. A brief comment is also made with regards to the pathology and management of this condition.     

Corneal involvement in epidermolysis bullosa simplex

A 17-year-old boy and his mother represent the first reported cases of ocular (corneal) involvement of the simplex form of epidermolysis bullosa. Both had a ring-like configuration of fine bullous lesions in the midperiphery bilaterally at the level of deep corneal epithelium superficial to Bowman's membrane (basal cell layer), with the son manifesting symptoms when some of his bullae ruptured through to the corneal epithelial surface. Nonscarring blistering was present in three generations of this family, suggestive of dominantly inherited epidermolysis bullosa simplex, and was confirmed by electron microscopy of a skin specimen from the son. Thus, ocular involvement has now been observed in all of the major types of epidermolysis bullosa.     

LAD-1 is absent in a subset of junctional epidermolysis bullosa patients

BACKGROUND: Awareness during anaesthesia has been estimated to occur in 0.2%-0.4% of patients undergoing general surgery. In Finland, according to the Patient Injury Act, compensation is paid for an injury caused by medical treatment. We have analysed the claims for compensation involving awareness under anaesthesia filed between May, 1987 and December, 1993. METHODS: Original claims, hospital notes, and expert advisor's comments as well as the comments of the anaesthesiologist in charge of the anaesthesia, and decisions of the Patient Injury Association, were reviewed. RESULTS: A total of 23363 claims of patient injury were made during the study period. Of these, 391 considered anaesthetic treatments, and there were four cases of awareness with recall. CONCLUSION: Claims of compensation for awareness during anaesthesia were surprisingly few, possible reasons of which are discussed. Compensations paid were low in comparison with some other countries.     

Esophageal stenosis in epidermolysis bullosa hereditaria]

Benign esophageal strictures in the upper esophagus may be caused by systemic diseases. A rare reason for esophageal strictures are the mechanobullous disorders marked by blister formation following relatively minor trauma, e.g. epidermolysis bullosa. In this report we present a 63-year-old patient who had suffered from epidermolysis bullosa simplex since birth. The epicutaneous symptoms were no longer present but an esophageal stricture had developed. The stricture was treated by X-ray-controlled balloon dilation twice, with a functionally good result. We suggest managing a recurrence recidiv of stricture with balloon dilation to minimize trauma and prevent further lesions.     

Anesthesia in a patient with epidermolysis bullosa

A 6-year-old-boy with epidermolysis bullosa underwent plastic surgeries for the scar contraction of hands. Anesthesia was induced with inhalation of sevoflurane in combination with nitrous oxide and oxygen. The tracheal was not intubated. Anesthesia was maintained with sevoflurane, nitrous oxide and oxygen with continuous intravenous infusion of ketamine. The courses of anesthesia and the operations were uneventful. The most important point in the anesthetic management of the patient with this disease is to avoid mechanical stimulation to skin and mucous membrane.     

Anesthetic management of two patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS)

MELAS is a type of the mitochondrial myopathy characterized by elevation of pyruvate and lactate levels in both the blood and cerebrospinal fluid. This syndrome frequently accompanies cerebral infarction like symptoms. Recently, we experienced two patients for anesthesia with MELAS (both 11-year-old girls). V-P shunt construction and IVH reservoir implantation were conducted, respectively. Anesthesia was induced with fentanyl and midazolam, and vecuronium was used to facilitate tracheal intubation. Volatile anesthetic was avoided, and anesthesia was maintained with fentanyl, midazolam, and nitrous oxide. Arterial blood gases and pH were frequently checked, and acetated electrolyte solution was infused mainly during surgery. No complications occurred during anesthesia in both patients. In the anesthetic management for MELAS, measures to prevent malignant hyperthermia must also be considered.     

Special aspects of anesthesia in patients with epidermolysis bullosa based on a case example

Epidermolysis bullosa hereditaria dystrophica (Hallopeau-Siemens) is a rare autosomal recessive disease characterized by extreme bullae formation of skin and mucosa. Typical dystrophic nails and flexion contractures of the joints can lead to deformities. Carious teeth and microstomia caused by scarred contractures of the lips are characteristic of the clinical picture. Depending on the form and severity of epidermolysis bullosa, the anaesthetic and surgical management requires careful planning to avoid unnecessary complications as a result of positioning, anaesthesia or surgery. In cooperation with the patient, optimal positioning on the operating table without pressure or tangential friction of the skin needs to be achieved. Wherever possible, surgical tape and adhesive electrodes should be avoided. Artificial respiration, intubation and monitoring must be adapted to the skin conditions of the patient. In particular the skin below the blood pressure cuff must be protected by adequate padding, and maximum intervals between measurements should be chosen. Nasal, oral, laryngeal and tracheal manipulations should be kept to a minimum for protection of the upper airway. Fibre optic intubation is to be preferred because of the possibility of microstomia and the need for simultaneous airway diagnosis. In addition, oro- or nasopharyngeal tubes and catheters should be avoided where possible. Depending on the course of surgery and anaesthesia, postoperative therapy in an intensive care unit should be considered.     

Oral involvement of recessive dystrophic epidermolysis bullosa inversa

The inversa subtype of autosomal recessive dystrophic epidermolysis bullosa (EBDR-I) is a rare variant characterized by lesions involving primarily the flexural areas of the body. The purpose of this investigation was to characterize the oral manifestations of this unusual dermatologic condition. Ten individuals having EBDR-I were evaluated and compared with an age and sex-matched population of unaffected individuals that served as controls. The diagnosis of EBDR-I was confirmed by skin biopsy that demonstrated tissue separation below the lamina densa and the clinical presentation of blister formation that typically localized to flexural areas. There was clinical variability in the severity and distribution of skin involvement; however, none of the affected individuals demonstrated pronounced digital webbing, severe generalized blistering or growth retardation characteristic of the Hallopeau-Siemens form of EBDR. Oral involvement was seen in all cases with ankyloglossia, loss of tongue papillae and obliteration of the oral vestibule between the lips and gingiva being typical. The oral opening was significantly reduced in older EBDR-I individuals compared with matched controls, confirming that acquired microstomia is a characteristic of EBDR-I. The teeth were not clinically abnormal or malformed and showed no evidence of generalized enamel hypoplasia. Despite this, the prevalence of dental caries in EBDR-I individuals was significantly higher than the control group. The inversa form of EBDR presents with oral findings that are similar but generally milder than those seen in the Hallopeau-Siemens variant of EBDR.     

Bloodstream infections in HIV-positive patients: a review of sixty-eight episodes

Despite adjuvant chemotherapy the prognosis of patients with breast cancer and a high number of involved axillary lymph nodes is very poor. The aim of the present study was to evaluate the efficacy of high-dose chemotherapy with autologous bone marrow support in patients with seven or more involved axillary lymph nodes. Nineteen patients underwent four courses of standard adjuvant chemotherapy, followed by high-dose busulphan/cyclophosphamide chemotherapy with autologous bone marrow support. The median age was 41.4 years and the median number of involved lymph nodes 11. Mucositis WHO grade > or = 3 was observed in 15 patients and 18 patients suffered febrile neutropenia. Transplant-related mortality was encountered in two patients, due to hepatic veno-occlusive disease and sepsis complicated by multi-organ failure, respectively. After a median follow-up period of 1490 days (range 582-2024 days) from diagnosis, nine patients have relapsed and the overall event-free survival (EFS) is 42% (95% CI 19-65%). The median EFS is 487 days. High-dose treatment with BuCy2 in high-risk breast cancer patients is a toxic regimen and does not seem to improve disease-free survival.     

Electron microscopic observations of the conjunctiva in epidermolysis bullosa hereditaria

PURPOSE: Our purpose was to assess the effect of cryopreservation on cytoskeleton of germinal vesicle (GV) mouse oocytes and determine whether irreversible spindle damage and related digyny associated with cryopreservation of metaphase II (MII) oocytes can be avoided. METHODS: The GV oocytes were cryopreserved using a slow-cooling (0.5 degree C/min) and slow-thawing (8 degrees C/min) protocol in 1.5 M dimethylsulfoxide supplemented with 0.2 M sucrose and analyzed before and during fertilization by multiple-label fluorescence and differential interference contrast microscopy techniques. RESULTS: When examined after in vitro maturation, the vast majority (> 95%) of cryopreserved and control oocytes displayed normal microfilament and microtubule organization. With respect to barrel-shaped spindle and normal chromosome alignment, no significant differences were observed between cryopreservation (78 and 86%, respectively) and control (85 and 95%, respectively) groups. In fertilization experiments, spindle rotation, formation of the second polar body, and pronuclear migration were displayed by similar percentages of cryopreserved (96, 94, and 37%, respectively) and control (98, 97, and 45%, respectively) oocytes, indicating normal functionality of the cytoskeleton during this period. However, pronuclear formation was significantly inhibited by cryopreservation (81%) compared with controls (100%). Regarding digyny and polyspermy, no significant increase was observed after cryopreservation (3 and 10%, respectively) compared with controls (3 and 6%, respectively). CONCLUSIONS: Cryopreservation of mouse oocytes at the GV stage is particularly advantageous to circumvent the spindle damage and increased digyny noted after cryopreservation of MII oocytes.     

Remission of severe epidermolysis bullosa acquisita induced by extracorporeal photochemotherapy

We report a patient with severe epidermolysis bullosa acquisita (EBA) whose disease was refractory to conventional treatments. New bullae continued to develop over greater than 50% of his body surface area despite therapy. His course was complicated by hyperglycaemia, sepsis, hypoxia caused by pulmonary Aspergillus infection and an idiopathic cardiomyopathy. His EBA resolved after treatment with extracorporeal photochemotherapy (ECP). Hence, ECP may be effective in the treatment of severe EBA which has failed to respond to standard treatment regimens.     

Simultaneous manifestation of squamous cell carcinoma in identical twins with epidermolysis bullosa

We report a case of identical twins with recessive dystrophic epidermolysis bullosa, who developed squamous cell carcinoma in the hand at the latter half of their third decade. To our knowledge, this is the first case of manifestation of squamous cell carcinoma in identical twins and may contribute to the understanding of oncogenesis in such patients.     

Anesthetic management for bronchoscopy in patients with congenital tracheomalacia

We experienced the anesthetic management for two patients with congenital tracheomalacia. Inhaled anesthetics are considered to worsen the respiratory condition of tracheomalacia because of its bronchodilating effect. Thus we tried awake intubation in one case, but it was difficult. In another case, we used slow induction with sevoflurane and the trachea was intubated smoothly. Inhaled anesthetics have possibility of worsening the degree of tracheomalacia and have been used very carefully. However, we considered that slow induction with inhaled anesthetics in children with congenital tracheomalacia is a safe and necessary technique, under careful observation of respiratory conditions.     

Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa

OBJECTIVE: To characterize the use of the esophageal tracheal combitube (ETC) in trauma patients who fail orotracheal rapid sequence intubation (RSI). DESIGN: Prospective protocol design and retrospective chart review. MATERIALS AND METHODS: Flight nurses were trained in the use of the ETC by mannequin simulation, videotape review, and didactic sessions. ETC insertion was attempted after failure of two or more attempts at orotracheal RSI. Over a 12-month period, 12 patients had ETC insertion, and 10 cases qualified for review. Injuries, number of failed orotracheal RSI attempts, definitive airway, initial arterial blood gas results, and outcome were recorded. RESULTS: ETC insertion was successful in all 10 patients in whom it was attempted. Definitive airway control was achieved by conversion to orotracheal intubation in seven patients, emergency department cricothyroidotomy in one patient, and operative room tracheostomy in two patients. No patient died because of failure to control the airway. Seven patients requiring ETC had mandible fractures. CONCLUSION: ETC insertion is an effective method of airway control in trauma patients who fail orotracheal RSI. It may be particularly useful in the patient with maxillofacial trauma and offers a practical alternative to surgical cricothyroidotomy in difficult airway situations.