Case Of Epidermolysis Bullosa Research Articles

Epidermolysis Bullosa-A Kindler Syndrome Case Report and Short Literature Review.

Epidermolysis bullosa (EB) represents a group of rare disorders, genetically determined, characterized by skin fragility, blister formation and erosions due to minimal trauma. Depending on the ultrastructural level of skin cleavage, above or below the basement membrane, epidermolysis bullosa can be classified into four major types: simplex, junctional, dystrophic and Kindler Syndrome. In the junctional form of EB, the cleavage level is at the dermo-epidermal junction and the targeted proteins are laminin, type XVII collagen and integrins. The dystrophic form of EB is characterized by cleavage in the dermal layer, collagen VII being the targeted protein. In Kindler EB, multiple levels of cleavage have been described. The mutated gene is FERMT1. Another classification of this disease refers to phenotypic aspects such as extracutaneous lesions, severity, and distribution. The management of epidermolysis bullosa includes supportive wound treatments as well as nutritional support. We present a case of epidermolysis bullosa presented at birth, in a newborn with no family history of bullous skin conditions. The clinical presentation revealed extensive denuded areas and significant skin fragility as well as mucous and nail involvement. Prenatal diagnosis is very hard to achieve due to increased genetic heterogeneity of the disease. The short-term results were good. The importance of prenatal testing and possibilities of diagnosis are reviewed in this article. EB is a devastating disease. The presented case had a favorable evolution, with good short-term results. Significant morbidity can result from secondary infections of blisters and complications of the extracutaneous manifestations.

Staphylococcal Infections and Neonatal Skin: Data from Literature and Suggestions for the Clinical Management from Four Challenging Patients.

Staphylococcal infections in neonates might be associated with skin blistering since early antibiotic therapy has been shown to limit infection spread and positively influence outcomes; therefore, neonatologists should be aware of these conditions. This review examines the recent literature on the management of Staphylococcal infections that involve neonatal skin, discussing the most appropriate clinical approach to four cases of neonatal blistering diseases with Staphylococcal infections: a case of Staphylococcal bullous impetigo, a case of Staphylococcal scalded skin syndrome (SSSS), a case of epidermolysis bullosa with overlapping Staphylococcal infection, and a case of burns with overlapping Staphylococcal infection. In treating Staphylococcal infections involving skin in neonates, the presence or absence of systemic symptoms should be considered. In the lack of evidence-based guidelines in this age category, treatment should be individualized according to several factors including the extension of the disease or further skin comorbidities (such as skin fragility), with a multidisciplinary approach.

Diverse clinical and genetic characteristics of six cases of inherited epidermolysis bullosa.

Inherited epidermolysis bullosa (IEB) represents a group of rare genetic dermatoses comprising various phenotypes ranging from severe cutaneous and extracutaneous involvement to mild cutaneous fragility. Pathogenic variants have been identified in at least 20 genes responsible for IEB. In the present study, six cases of epidermolysis bullosa were recruited and subjected to a combination of clinical and genetic analysis. The family history of each case was surveyed. Whole exome sequencing was performed to identify the causative variation. The six patients showed typical EB symptoms. In all cases, WES detected the diagnostic variations of the COL7A1 or DST gene. A total of 10 variants were identified and verified. The findings of the present study further expanded the mutation spectrum of IEB, provided evidence for genetic counseling to the affected families, as well as highlighted the complexity of the pathogenesis of IEB.

Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia.

Epidermolysis bullosa (EB) is a rare heterogeneous genetic mechanobullous skin disorder that is characterized by increased skin fragility leading to blistering following minor trauma. EB may be inherited as an autosomal dominant or an autosomal recessive disorder and can be classified into dystrophic EB (DEB), junctional EB (JEB), and EB simplex (EBS). A total of 28 Saudi patients with EB were included in this observational, retrospective chart-review study. A consecutive non-probability sampling technique was used to approach all affected patients. Molecular analysis was done to test the patients’ genomic DNA using a custom-designed AmpliSeq panel of suspected genes. All disease-causing variants were checked against available public databases. Twelve patients (42.9%) were found to have DEB, 6 patients (21.4%) with JEB, and 10 patients (35.7%) with EBS. The molecular genetic results revealed detections of 24 various homozygous genetic variations in the genes associated with EB, of which 14 were novel mutations. The most frequent variations were detected in COL7A1 in 12 cases (42.9%), followed by LAMB3 in 5 cases (17.9%), TGM5 in 4 cases (14.3%), and other genes. Furthermore, the majority (87.5%) of EB cases were confirmed to have homozygous mutations, and few were documented with positive consanguinity history. Only 3 cases (12.5%) were found to be autosomal dominant displaying heterozygous mutations. This is the first study to establish the EB genetic profile in Saudi Arabia where DEB is the most frequent type. A total of 14 novel mutations were identified that had not been previously reported. Consanguineous marriage is clearly recognized in the Saudi population; therefore, we propose a nationwide EB program that would help extend the spectrum of the genetic profile and help in the diagnosis and better understanding of this disease.

Epidermolysis bullosa with clinical manifestations of sepsis and pneumonia: A case report.

BackgroundEpidermolysis bullosa is an inherited disease that causes bleeding blisters on the skin tissues and mucosal membranes. This study reports a case of epidermolysis bullosa with clinical manifestations of sepsis and pneumonia.Case reportA 17-month-old female with epidermolysis bullosa presented with clinical manifestations of sepsis and pneumonia, including increased body temperature, anorexia, and wheezing. Blood test results included the following: white blood cell (WBC) count, 24,000/μl; hemoglobin level, 7.9 mg/dl; erythrocyte sedimentation rate (ESR), 99 mm/h; and C-reactive protein level, +2. The patient was given ceftriaxone, vancomycin, hydrocortisone, and acetaminophen. The patient's fever resolved on the third day of hospitalization, and the ESR and WBC count reached 25 mm/h and 9900/μl, respectively.ConclusionsAccording to the report, it is recommended to consider an increase in body temperature, WBC count, and ESR, and perform the required attempts in patients with epidermolysis bullosa.

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.

COL7A1与PLEC双基因突变致大疱性表皮松解症一例国内首报

COL7A1与PLEC双基因突变致大疱性表皮松解症一例国内首报

Clinical diagnostic matrix (CDM) as a tool to diagnose subtypes of epidermolysis bullosa cases in children

Background: Epidermolysis bullosa (EB) is a rare genetic skin disease characterized by trauma-induced blisters, which appear shortly after birth. Immunofluorescence antigen mapping and mutational analysis are essential for establishing an accurate diagnosis of EB. However, in limited resource settings like in Indonesia, such techniques are not always readily available, forcing many clinicians to diagnose EB based on clinical features alone that is often inaccurate. Recently, a novel clinical diagnostic matrix (CDM) tool has been developed to improve the diagnostic accuracy of EB in such settings. Case Illustration: We examined clinical photographs and medical records of patients registered at the Dr. Moewardi hospital with a provisional diagnosis of EB since 2013 to 2017 and completed the 19 clinical manifestations required for the CDM’s electronic version. Discussion: CDM provides a diagnosis of the EB subtypes, which cannot be concluded in advance from the previous three cases, although histopathological examination have been carried out. Since immunofluorescence examination and genetic mapping are inaccessible in Indonesia, the CDM gave a brief possibility of diagnosing EB subtypes. Completing the CDM took less than five minutes and the result was available immediately after clinical features data input. Conclusion: CDM appears to be practical, easy to be used and helpful in characterizing EB, especially in limited resource settings. Moreover, it helps in clear documentation of clinical features in an EB patient that could be useful for accurate phenotype-genotype correlations in the future. Keywords : clinical diagnostic matrix, epidermolysis bullosa

Epidermolysis bullosa: an exceptional cause of dysphagia

Epidermolysis bullosa is a genetically transmitted disorder characterized by skin blistering and scarring after minor traumatism, involves also internal organs that are lined with squamous epithelium. Oesophageal stricture is a rare but often serious complication of epidermolysis bullosa causing dysphagia. We report a case of epidermolysis bullosa complicating by esophageal stricture which was successfully managed with endoscopic balloon dilatation without complications. This case illustrate an example of unusual but serious aetiology of dysphagia in children.

A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.

Historically, diagnosis of epidermolysis bullosa has required skin biopsies for electron microscopy, direct immunofluorescence to determine which gene(s) to choose for genetic testing, or both. To avoid these invasive tests, we developed a high-throughput next-generation sequencing (NGS)-based diagnostic assay called EBSEQ that allows simultaneous detection of mutations in 21 genes with known roles in epidermolysis bullosa pathogenicity. Mutations are confirmed with traditional Sanger sequencing. We present our EBSEQ assay and preliminary studies on the first 43 subjects tested. We identified 11 cases of epidermolysis bullosa simplex, five cases of junctional epidermolysis bullosa, 11 cases of dominant dystrophic epidermolysis bullosa, 15 cases of recessive dystrophic epidermolysis bullosa, and one case that remains without diagnosis. We also found an additional 52 variants of uncertain clinical significance in 17 of the 21 epidermolysis bullosa-associated genes tested. Three of the variants of uncertain clinical significance were also found in three other patients, for a total of 49 unique variants of uncertain clinical significance. We found the clinical sensitivity of the assay to be 75% to 98% and the analytical sensitivity to be 99% in identifying base substitutions and small deletions and duplications. Turnaround time was 3 to 6 weeks. EBSEQ is a sensitive, relatively rapid, minimally invasive, comprehensive genetic assay for the diagnosis of epidermolysis bullosa.

Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre.

Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing as a rapid and efficient diagnostic strategy in several genodermatoses. The aim of this study was to explore the potential of molecular studies in dystrophic epidermolysis bullosa (DEB) in India. Whole exome sequencing was performed using genomic DNA from each case of epidermolysis bullosa, followed by massively parallel sequencing. Resulting reads were mapped to the human reference genome hg19. Sanger sequencing subsequently confirmed the potentially pathogenic mutations. Whole exome sequencing of 18 patients with DEB from 17 unrelated Indian families revealed 20 distinct sequence variants in the COL7A1 gene including 2 widely prevalent mutations. Dominant inheritance was seen in 7 patients, while 11 patients showed a highly variable recessive DEB. This preliminary study using exome sequencing is clearly encouraging and will serve as the basis for future large-scale molecular studies to actively identify and understand DEB in the Indian population.

Сoncomitant conditions in children’s clinical allergist practice. Difficult patients

The article presents the clinical case of epidermolysis bullosa and atopic dermatitis in child. Such patients require in-patient treatment due to severe progressive course of the disease and the ineffectiveness of therapy.

Oh my… look at those blisters!

How an independent consultant helped a friend with an extreme case of epidermolysis bullosa

The key role of ultrasound examination in the prenatal diagnosis of epidermolysis bullosa with pyloric atresia

What's already known about this topic? In de novo cases of genodermatoses, direct prenatal ultrasound may lead to a strong suspicion in only very few cases, mainly represented by the most severe form of congenital ichthyosis. For others, including epidermolysis bullosa and disorders of pigmentation, fetal skin lesions are not accessible to prenatal ultrasound examination.What does this study add? Certain prenatal diagnosis of de novo cases of epidermolysis bullosa is feasible when all biological and clinical patterns are present without the need for histological confirmation. These cardinal signs are represented by (1) unexplained polyhydramnios with high AFP levels in the amniotic fluid (>20 MoM), (2) the presence of an unusual addition slow band on acetylcholinesterase electrophoresis and (3) the presence of a dilated stomach suggestive of pyloric atresia.

Junctional epidermolysis bullosa in a calf

A case of epidermolysis bullosa in a calf descendent from a Gir bull and a Gir crossbreed cow is reported. The calf presented with exungulation of all hooves, widespread erosions and crusts on the skin, and ulcers in the oral cavity. Histologically, the skin showed subepidermal separation with clefts occasionally filled with eosinophilic clear fluid, cellular debris, or neutrophils. Ultrastructurally, there was epidermal-dermal separation at the level of the lamina lucida, with the lamina densa attached to the papillary dermis. The hemidesmosomes were poorly defined and small. The clinical, histological, and ultrastructural findings are characteristic of junctional epidermolysis bullosa.

An unusual case of epidermolysis bullosa complicated by persistent oligoarticular juvenile idiopathic arthritis; lessons to be learned

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare and severe hereditary skin disease. Oligoarticular Juvenile Idiopathic Arthritis (JIA) although infrequent in the general paediatric population, is the most frequent type of autoimmune joint disease in children. While different in aetiology, both diseases are characterized by gradual deterioration in mobility and function. We report a female patient, diagnosed with RDEB at birth, who presented with inflammatory bowel disease (IBD) at the age of four years, and subsequently developed oligoarticular JIA at seven years of age, and discuss the diagnostic and treatment challenges of this unusual case. This report, besides presenting a unique case, also highlights the important issues that need to be taken into account when assessing and managing patients with such complex conditions.

Case of Epidermolysis Bullosa with Pyloric Atresia

Epidermolysis bullosa (EB) is a rare hereditary disorder characterized by formation of blisters following minor trauma. It has been traditionally categorized by the level of basement membrane zone separation into EB simplex (EBS), junctional EB (JEB), and dystrophic EB (DEB). Recently, hemidesmosomal EB has been proposed as a fourth category, which includes EB with muscular dystrophy and EB with pyloric atresia. We report here on a case of concomitant occurrence of EB and pyloric atresia, a rare form of EB.

Junctional epidermolysis bullosa in a female Nigerian child: a case report

To report the case of Junctional Epidermolysis bullosa seen in the University of Calabar Teaching Hospital, Calabar and to draw attention to the existence of this condition among Nigerians. A Nigerian female infant, normal at birth, developed extensive blistering skin eruptions from the age of ten days. The lesions involved the face, neck, shoulders, upper trunk and the buccal mucosa of the lower lip sparing the limbs. The cornea were cloudy. The history, type and distribution of the lesions were consistent with Junctional Epidermolysis bullosa (EB). This was confirmed by skin biopsy and histology. Various medications including systemic and topical steroids, antibiotics and other topical creams only produce transient relief with frequent relapses. The Junctional EB type is known to be autosomal recessive in inheritance though there was no positive family history. Avoidance of heat, warm bath and trauma and genetic counseling can be helpful in reducing frequent relapses of the condition that has no specific treatment. This appears to be the first case of Epidermolysis bullosa to be reported from Calabar, south eastern Nigeria. This case report shows that this rare condition does affect people in the tropics. Efforts should always be made to reach a definitive diagnosis whenever unusual conditions are encountered in clinical practice.

Doenças da pele em caprinos e ovinos no semi-árido brasileiro

Foi realizado um estudo das doenças de pele diagnosticadas em ovinos e caprinos, no semi-árido dos Estados da Paraíba, Pernambuco e Rio Grande do Norte. De janeiro de 2000 a novembro de 2006 foram registrados no Hospital Veterinário da Universidade Federal de Campina Grande, em Patos, Paraíba, 656 diagnósticos em caprinos e 324 em ovinos, além do estudo de espécimes de necropsia ou biópsia da pele de 31 em caprinos e 45 em ovinos enviados para exame histológico. Dos casos atendidos 80 (8,16%) apresentavam alterações na pele, destes 35 ocorreram em caprinos (5,33% do total de casos diagnosticados nesta espécie) e 45 em ovinos (13,88% dos casos diagnosticados nesta espécie). Das doenças de pele, a mais freqüente foi a miíase (10 casos em caprinos e 7 em ovinos) seguida do ectima contagioso (8 casos em caprinos e 2 em ovinos), carcinoma epidermoide (4 casos em caprinos e 5 em ovinos), dermatofilose (8 casos em ovinos), dermatite alérgica (1 caso em ovino e 1 em caprino). Além disso, foram diagnosticados dois casos de pitiose em ovinos, dois casos de epidermólise bolhosa em caprinos, um caso de intoxicação por Brachiaria brizantha (fotossensibilização) e outro de intoxicação por Leucaena leucocephala (alopecia) em ovinos e um caso de papilomatose, um de pênfigo foliáceo, um de prototecose e um de rabdomiossarcoma em caprinos. Em 4 casos em ovinos e 19 em caprinos não foi realizado diagnóstico etiológico da doença. A informação gerada sobre a ocorrência e epidemiologia das doenças de pele permite estabelecer medidas adequadas de controle.

Aspects pédiatriques de l’épidémie de Chikungunya à l’île de la Réunion

During the southern-hemispheric 2005-2006 summer, Reunion Island was struck by an epidemic of Chikungunya (Chik), which affected more than a third of the overall population. Our objective was to describe pediatric cases of Chick. We conducted a retrospective descriptive monocentric study of confirmed pediatric cases of Chik recruited at Saint-Denis' departmental hospital during the peak of the epidemic (January 1st to April 30th 2006). Eighty-six children aged 10 days to 18 years were included. In addition to the typical clinical presentation, we observed other phenotypes. Well-known complicated forms with neurologic, cardiac, gastro-intestinal (plus dehydration) involvement were thoroughly investigated using modern medical technology. We observed 2 fatal cases of acute disease in 9-year-old children: death resulted from a central nervous system insult in one case, and multisystemic neurological, cardiac, haemorrhagic involvement in another. Severe acute presentations requiring hospital admission involved mainly children aged less than 6 months, and those with cardiac, skin and neurologic impairment. The study identified 3 cases of epidermolysis bullosa, which to our knowledge, have never been described previously. Chik in children warrants further research in order to propose early and appropriate treatments to avoid complications.