Case Of Dystrophic Epidermolysis Bullosa Research Articles

Increased healthcare burden and comorbidity risks of pediatric patients with dystrophic epidermolysis bullosa: Analysis of Nationwide Emergency Department Sample 2015-2019.

Dystrophic epidermolysis bullosa (DEB) describes a rare genetic blistering disorder characterized by fragile skin. This study aimed to classify the frequency, demographics, cost, and comorbidities associated with emergency department (ED) visits due to DEB. The Nationwide Emergency Department Sample (NEDS) was analyzed for pediatric (age <18) ED visits from 2015 to 2019. DEB was identified with ICD-10-CM code Q81.2. Weighted frequency, prevalence, and 95% confidence intervals (CIs) of comorbidities were determined among ED visits with and without a DEB diagnosis. From 2015 to 2019, 53 (weighted 242) cases of DEB among 27,223,220 pediatric ED visits were captured. Patients with DEB were more likely to visit the ED in summer compared with those without a diagnosis of DEB (35.7% vs. 21.4%, P < .05). More than half of patients with DEB were admitted to the hospital (56.2%, 95% CI: 39.3-72.5, P < .001) versus only 3.4% (95% CI: 3.1-3.7) of other patients. For ED visits with a secondary DEB diagnosis, the top three primary diagnoses were fever, constipation, and bone marrow transplant aftercare. Patients with DEB had higher rates of hypertension, cellulitis, sepsis, acute and chronic kidney injury, esophageal obstruction, gastroesophageal reflux disease, cardiomyopathy, and anxiety, compared to patients without DEB (all P < .001). DEB is a complex blistering disorder with multisystemic manifestations. Patients with DEB have significantly higher admission rates and commonly present with infectious or gastrointestinal complications. Understanding the features of ED visits due to DEB can better prepare healthcare teams and improve patient outcomes.

Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.

Epidermolysis bullosa encompasses a group of inherited blistering skin disorders. The pathogenic mutations in 10–25% of patients with epidermolysis bullosa have not been identified by Sanger sequencing. The aims of this study were to identify the pathogenic sequence alterations in a large cohort of Chinese patients with epidermolysis bullosa and to clarify the relationship between clinical phenotypes and genotypes. Whole-exome sequencing was performed on 44 pedigrees and 13 sporadic cases. The results were further confirmed by Sanger sequencing. In total, 52 mutations, comprising 19 novel and 33 previously reported mutations, were identified in 5 genes, with a mutation detection rate of 100%. A relationship between subtypes and pathogenic genes was established: 12 cases of epidermolysis bullosa simplex were associated with mutations in KRT5/14 and PLEC; one case of junctional epidermolysis bullosa carried mutations in ITGB4; and 44 cases of dystrophic epidermolysis bullosa were caused by mutations in COL7A1. The results of this study support whole-exome sequencing as a promising tool in the genetic diagnosis of epidermolysis bullosa.

PS01.095: BENIGN ESOPHAGEAL STRICTURE: A RECAP OF OUR EXPERIENCE

Abstract Background Caustic injury remains the commonest cause of benign esophageal strictures in Asia. Others include gastroesophageal reflux, iatrogenic, radiation, autoimmune or idiopathic causes. Treatment goals are relief of dysphagia and prevention of recurrence. This study aims to evaluate the experience with benign esophageal stricture in Penang Hospital, a tertiary hospital in Northern region of Malaysia. Methods A retrospective review of 12 patients with benign esophageal strictures between year 2012 - 2017. Results The mean age was 53.5 and two thirds were female. Half of these patients were of Chinese ethnicity while the other half were Indian. The commonest cause was caustic ingestion (41.7%), followed by reflux stricture (25%) and anastomotic stricture (25%). There was one case of dystrophic epidermolysis bullosa. More than half of the patients had complex and multiple strictures. 41.7% of patients had proximal strictures that were located within 20cm from the incisors. Endoscopic dilatation was the first line treatment with either Savary Gilliard or balloon dilators. A total of 97 dilatation sessions were done with a mean dilatation frequency of 2.3 ± 1.5 times for anastomotic strictures, 8 ± 8.2 times for reflux strictures and 8.0 ± 6.6 times for corrosive strictures. The mean dilatation interval was 2.5 ± 1.2 weeks. 58.3% of patients had successful endoscopic treatment. The success rate was higher in non-corrosive stricture (83% vs 40%). There was one dilatation related complication in which the patient had pneumomediastinum without overt mediastinitis. This however, resolved with conservative management. 41.7% of patients had refractory strictures that failed endoscopic dilatation. Surgery including esophagectomy (40%), revision of anastomosis (20%) and gastrostomy (40%) were done for this group of patients. Proximal strictures, complex strictures and multiple strictures were associated with failed endoscopic dilatation (P &lt; 0.05). Conclusion Endoscopic dilatation is the first line treatment for benign esophageal strictures. Surgery is reserved for refractory strictures with failed endoscopic treatment. Predictor scoring systems for refractory stricture and individualized approaches are the key to success. Disclosure All authors have declared no conflicts of interest.

Dystrophic Epidermolysis Bullosa

Epidermolysis bullosa is a rare inherited blistering disease with an incidence of 8-10 per million live births. Dystrophic epidermolysis bullosa is a type of epidermolysis bullosa caused by mutation in type VII collagen, COL7A1. There are 14 subtypes of dystrophic epidermolysis bullosa and 400 mutations of COL7A1. Electron microscopy is the gold standard diagnostic test but expensive. Immunofluorescence study is a suitable diagnostic alternative. Trauma prevention along with supportive care is the mainstay of therapy. Squamous cell carcinoma develops at an early age in epidermolysis bullosa than other patients, particularly in recessive dystrophic epidermolysis bullosa subtypes. Regular follow-up is imperative in detecting and preventing complications. Gene therapy, cell therapy and bone marrow transplantation are the emerging novel therapeutic innovations. Preventing possible skin and mucosal injury in patients requiring surgery should be worked on. Here, we present a case of dystrophic epidermolysis bullosa in a 26-year-old male. Keywords: blister; dystrophic epidermolysis bullosa; epidermolysis bullosa; knee disarticulation; surgery.

Dental and Anaesthetic Challenges in a Patient with Dystrophic Epidermolysis Bullosa.

Epidermolysis bullosa is a group of rare genetic disorders characterised by skin and mucous membrane fragility and systemic manifestations of variable severity. We report a case of dystrophic epidermolysis bullosa in an 18-year-old male patient who presented to the Department of Oral Health at Sultan Qaboos University Hospital, Muscat, Oman, in 2015 with recurrent dental pain and infections. Due to the poor dental status of the patient and anticipated operative difficulties due to microstomia and limited mouth opening, the patient underwent full dental clearance under general anaesthesia. This article discusses the dental and anaesthetic challenges encountered during the management of this patient and provides a brief literature review.

Congenital dystrophic epidermolysis bullosa (DEB) in Sprague Dawley rats: a case series.

Epidermolysis bullosa is a rare skin disease caused by defects in the basement membrane and/or other dermoepidermal junction components. We describe a series of spontaneous cases of dystrophic epidermolysis bullosa (DEB) in a colony of Sprague Dawley rats investigated with histopathology, transmission electron microscopy (TEM) and inheritance pattern. Four, 4-day-old pups from a litter of Sprague Dawley rats developed blistering, haemorrhagic skin lesions and were euthanized. Age-matched controls from the same litter were normal. Several months later two more litters presented with identical findings. All three litters had the same sire, suggesting a genetic component. Skin from affected and control animals was evaluated histologically and with TEM. Unaffected sibling pairs from affected litters were bred in order to potentially reproduce the disease and determine the mode of inheritance. Histologically, there was significant dermoepidermal clefting below the basement membrane with variable amounts of haemorrhage and cellular debris within the clefts. Ultrastructurally, clefting occurred below the basement membrane with an intact lamina densa and normal hemidesmosomes. Anchoring filaments were strikingly absent. Litters produced from phenotypically unaffected sibling pairs resulted in a total of four more litters with approximately a quarter of pups affected. Based on the gross lesions, histopathological features and TEM determination of separation below the lamina densa and lack of normal anchoring fibrils, these cases are most consistent with DEB. This is the first report of naturally occurring, localized and reproducible recessive DEB in Sprague Dawley rats.

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Scanning electron microscopy of a blister roof in dystrophic epidermolysis bullosa

In dystrophic epidermolysis bullosa the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane, with its consequent loss. We performed scanning electron microscopy of an inverted blister roof of a case of dystrophic epidermolysis bullosa, confirmed by immunomapping and gene sequencing. With a magnification of 2000 times a net attached to the blister roof could be easily identified. This net was composed of intertwined flat fibers. With higher magnifications, different fiber sizes could be observed, some thin fibers measuring around 80 nm and thicker ones measuring between 200 and 300 nm.

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.

A Case of Dystrophic Epidermolysis Bullosa Improved with Etanercept for Concomitant Psoriatic Arthritis

Epidermolysis bullosa is a group of inherited, chronic, non-inflammatory skin disorders, and dystrophic epidermolysis bullosa (DEB) is one of the most severe variants. The role of tumour necrosis factor alpha (TNFalpha) has not been reported in the pathogenesis of DEB. A DEB case is reported that appears to have responded well to the TNFalpha inhibitor etanercept given for the treatment of concomitant psoriatic arthritis. A progressive improvement in DEB was apparent over the first 3 months of treatment and persistent good control of DEB was noted over 3 years of therapy. A correlation between DEB improvement and etanercept has not been made, but the case may provide insight into the causal mechanisms of DEB.

Dystrophic Epidermolysis Bullosa with One Dominant and One Recessive Mutation of the COL7A1 Gene in a Child with Deafness

Dystrophic epidermolysis bullosa can be inherited in autosomal dominant and recessive forms, the former usually expressed as a milder phenotype, although mild forms of recessive dystrophic epidermolysis bullosa can occur. We present a patient who was found to be a compound heterozygote, inheriting a dominant mutation from his father and a recessive mutation from his mother, resulting in a clinically severe case of dystrophic epidermolysis bullosa. Mutations in the gene for collagen VII (COL7A1) have been documented in both types of dystrophic epidermolysis bullosa. Our patient has also been diagnosed with bilateral auditory neuropathy, a disorder coincidentally also mapped to a nearby gene on chromosome 3p21 (the transmembrane inner ear expressed gene, TMIE).

Structural Organization of the Human Type VII Collagen Gene (COL7A1), Composed of More Exons Than Any Previously Characterized Gene

The human type VII collagen (COL7A1) gene is the locus for mutations in at least some cases of dystrophic epidermolysis bullosa. Here we describe the entire intron/exon organization of COL7A1, which is shown to have 118 exons, more than any previously described gent. Despite this complexity, COL7A1 is compact. Consisting of 31,132 bp from transcription start site to polyadenylation site, it is only about three times the size of type VII collagen mRNA. Thus, COL7A1 introns are small. A 71-nucleotide COL7A1 intron is the smallest intron yet reported in a collagen gene, and only one COL7A1 intron is greater than 1 kb in length. All exons in the COL7A1 triple helix coding region that do not begin with sequences corresponding to imperfections of the triple helix begin with intact codons for Gly residues of Gly-X-Y repeats. This is reminiscent of the structure of fibrillar rather than other nonfibrillar collagen genes. In addition, the COL7A1 triple helix coding region contains many exons of recurring sizes (e.g., 25 exons are 36 bp, 12 exons are 45 bp, 8 exons are 63 bp), suggesting an evolutionary origin distinct from those of other nonfibrillar collagen genes. Sequences from the 5′ portion of COL7A1 are presented along with the 3766-bp intergenic sequence, which separates COL7A1 from the upstream gene encoding the core I protein of the cytochrome bc 1 complex. The COL7A1 promoter region is found to lack extensive homologies with promoter regions of other genes expressed primarily in skin.

Complicating systemic amyloidosis in dystrophic epidermolysis bullosa, recessive type

An autopsy case of dystrophic epidermolysis bullosa, recessive type, complicated by systemic secondary amyloidosis is described. The patient had developed multiple bullous lesions and erosions from birth, followed by repeated infection. At autopsy, chronic persistent inflammation was observed in the skin and in various visceral organs, accompanied by systemic amyloidosis. By the peroxidase-antiperoxidase (PAP) method, amyloid deposits stained positively for anti-AA-protein antiserum. In the present case, we concluded that the systemic amyloidosis was of the AA type, and developed secondarily to the chronic persistent inflammation in the prolonged course of dystrophic epidermolysis bullosa, recessive type.

Vitamin E Therapy in Dystrophic Epidermolysis Bullosa

To the Editor.— Dystrophic epidermolysis bullosa, a rare hereditary disorder, is characterized by the formation of bullae over the sites of friction. The clinical features of the condition have been described elsewhere. 1,2 Various drugs, like corticosteroids, 3 amino acids, 4 and chloroquine phosphate, 5 have been used but without beneficial effects. Vitamin E therapy in a case of dystrophic epidermolysis bullosa was first suggested by Price, 6 later on commended by Wilson, 7 and by Ayers and Mihan. 8 A trial of vitamin E, (DL-alpha tocopheryl [Ephynal]) acetate therapy was undertaken in three cases of dystrophic epidermolysis bullosa with beneficial results. Report of Cases Vitamin E acetate was administered in oral dosages of 300 to 600 international units (IU) daily in these cases. The treatment was started May 21, 1971, and continued until Sept 29. A remarkable improvement was evident by the regression of the existing skin lesions

Cutaneous acid mucopolysaccharides in some dermatoses.

Summary.— Quantitative chemical analysis for hyaluronic acid (HA) and derMatan sulphate (DS) was performed on biopsies from 9 healthy volunteers and from the lesions of 30 patients with skin disease. The following observations were made: (1) Values for both HA and DS in the skin of healthy volunteers were higher than those reported previously for post-mortem material. (2) A striking decrease was found in the HA, together with a less marked reduction in the DS level, in lesions of discoid L.E. and scleroderma. (3) A very low DS level was found in a single case of dystrophic epidermolysis bullosa.

Extra-articular ankylosis as a complication of dystrophic epidermolysis bullosa

A case of dystrophic epidermolysis bullosa is described in which there was marked improvement in the opening of the mouth following excision of fibrous scar bands in the retromolar regions.