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.     

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.     

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.     

Ultrastructural studies in epidermolysis bullosa hereditaria. III. Recessive dystrophic types with dermolytic blistering (Hallopeau-Siemens types and inverse type)

In this paper the authors describe and analyse results that they obtained by infection of the guinea pig organism carried out by subcutaneous or intratracheal application with five mycobacterial strains, namely Myco bovis BCG-Praha, Myco the H37Ra, Myco Kansasii, Myco fortuitum and Myco smegmatis. At predetermined time intervals following subcutaneously or intratracheally performed infection (on 7th, 16th, 28th and 56th day after infection) transplantation of a Deals' guinea pig sarcoma cell suspension was carried out in guinea pigs by the intraltracheal route. As it appears from the results gained the applied mycobacteria exhibit a partial inhibition of growth od Deals' guinea pig sarcoma cells of different character. From among the utilized strains the Myco bovis BCP-Praha and the Myco tbc H37Ra exhibited the highest, Myco fortuitum and Myco smegmatis the lowest inhibitory activity. Intratracheally performed infections yielded in general better results on the growth inhibition than infections carried out with the same strain but by the subcutaneous route. Furthermore, in the experiments reported on in the present paper the authors could verify their earlier experience, namely that inhibition of growth of sarcoma cells is most pronounced at the time of maximal biological activity (logarithmic phase of multiplication) of the applied mycobacterium.     

Electron microscopic observations on sperm penetration in cytochalasin-treated eggs of the rose bitterling

The influence of Aloe vera (L.) Burman f. on the glycosaminoglycan (GAG) components of the matrix in a healing wound was studied. Wound healing is a dynamic and complex sequence of events of which the major one is the synthesis of extracellular matrix components. The early stage of wound healing is characterized by the laying down of a provisional matrix, which is then followed by the formation of granulation tissue and synthesis of collagen and elastin. The provisional matrix or the ground substance consists of GAGs and proteoglycans (PGs), which are protein GAG conjugates. In the present work, we have studied the influence of Aloe vera on the content of GAG and its types in the granulation tissue of healing wounds. We have also reported the levels of a few enzymes involved in matrix metabolism. The amount of ground substance synthesized was found to be higher in the treated wounds, and in particular, hyaluronic acid and dermatan sulphate levels were increased. The levels of the reported glycohydrolases were elevated on treatment with Aloe vera, indicating increased turnover of the matrix. Both topical and oral treatments with Aloe vera were found to have a positive influence on the synthesis of GAGs and thereby beneficially modulate wound healing.     

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.     

Epidermolysis bullosa acquisita diagnosed by direct immunoelectron microscopy of the conjunctiva

OBJECTIVE: To describe for the first time the direct immunoelectron microscopic pattern of immune deposits on the conjunctival basement membrane in epidermolysis bullosa acquisita (EBA). DESIGN: Case reports. PARTICIPANTS: Two patients. INTERVENTION: Epidermolysis bullosa acquisita associated with cicatrizing conjunctivitis. MAIN OUTCOME MEASURES: Direct immunofluorescence and direct immunoelectron microscopy without freezing on conjunctival and skin biopsy specimens, indirect immunofluorescence, Western immunoblot analysis. RESULTS: Results of direct immunoelectron microscopic examination of the conjunctiva showed the presence of immune deposits in the anchoring fibril zone, just beneath the lamina densa, in both patients. This finding was the same as the direct immunoelectron microscopic pattern shown in the skin of these patients, which is known to be very specific for EBA. Direct immunofluorescence was positive in the conjunctiva of only one patient. Indirect immunofluorescence and Western immunoblot analysis failed to detect circulating autoantibodies. CONCLUSIONS: Direct immunoelectron microscopy on the conjunctiva is a useful diagnostic tool to differentiate EBA from other related autoimmune mucocutaneous blistering diseases.     

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation

Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant skin diseases characterized by blistering, due to mechanical stress-induced degeneration of basal epidermal cells. It is now well-established that the three major subtypes of EBS are genetic disorders of the basal epidermal keratins, keratin 5 (K5) and keratin 14 (K14). Here we show that a rare subtype, referred to as EBS with mottled pigmentation (MP), is also a disorder of these keratins. Affected members of two seemingly unrelated families with EBS-MP had a C to T point mutation in the second base position of codon 24 of one of two K5 alleles, leading to a Pro: Leu mutation. This mutation was not present in unaffected members nor in 100 alleles from normal individuals. Linkage analyses mapped the defect to this type II keratin gene (peak logarithm of odds score at phi = 0 of 3.9), which is located on chromosome 12q11-q13. This provides strong evidence that this mutation is responsible for the EBS-MP phenotype. Only conserved between K5 and K6, and not among any of the other type II keratins, Pro-24 is in the nonhelical head domain of K5, and only mildly perturbs the length of 10-nm keratin filaments assembled in vitro. However, this part of the K5 head domain is likely to protrude on the filament surface, perhaps leading to additional aberrations in intermediate filament architecture and/or in melanosome distribution that are seen ultrastructurally in patients with the mutation.     

Electron microscopic observations on the elimination of the oocyte through the peritoneal epithelium in the neonatal mouse ovary

Six girls and one boy with cronic active hepatitis (CAH) of unknown etiology were between 9 and 15 years at the clinical onset of their illness. After beginning immunosuppressive therapy the course of their disease was followed from one to ten years. All had markedly increased IgG, high titres of smooth muscle antibodies (SMA) and antinuclear antibodies of IgG class in the earliest serum specimens tested. Therapy resulted in an improved sense of well-being and a decrease in SGOT, IgG and titres of SMA. Very high titres of measles antibodies were observed in all cases. In one of the cases CAH manifested itself after measles and in another after rubella infection. The first case in our series of patients died of liver failure after 5 years of illness. The other patients have survived and are able to live a normal life. The possibility of CAH should be considered when children develop symptoms of hepatitis. Longterm immunosuppressive treatment with regular clinical and laboratory evaluation is important. Estimation of titres of SMA is an additional parameter of value in following of the activity of CAH in these young patients.     

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.     

Electron microscopic observations on the formation of elastic fibers in primary cultures of aortic smooth muscle cells

Increasing experimental concern with locomotion and its neural control prompted the construction of a motor-driven treadmill for cats. The apparatus was designed for kinematic analysis of gait from 16 mm movie film, but it will also permit a variety of other records to be taken. A box, or base, houses two large drums and the belt drive. Space is provided on top of the base for a closed locomotion compartment that is transparent on the filming side. There is also sufficient space on top of the base for support apparatus, operator controls, and animal exits. Cats may be trained to work for food reward alone, as delivered from the front by the operator. Alternatively, they can be trained to stay near the front of the treadmill belt in order to avoid an aversive jet of air or electric shock, either of which can be delivered at the rear of the test chamber. The operator can maintain forward belt velocity at fixed levels between 0.5 and 6 m/sec, or he can vary velocity continuously. Displays of a tachometer and a special timing device are large enough to be clearly visible on the film. These various features in combination provide a controlled and varsatile stepping environment, in which the cat can move without physical restraints.     

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.