6,387 results match your criteria Epidermolysis Bullosa

Kidney and Urinary Tract Involvement in Epidermolysis Bullosa: Is Routine Follow-Up Necessary?

Dermatol Pract Concept 2021 May 20;11(3):e2021051. Epub 2021 May 20.

Department of Pediatric Nephrology, Marmara University School of Medicine, Istanbul, Turkey.

Background: Several renal and urinary tract complications have been reported in patients with epidermolysis bullosa.

Objective: This study investigated kidney and urinary tract involvement in patients with epidermolysis bullosa.

Patients And Methods: Patients with epidermolysis bullosa in treatment at the Dermatology Unit were included in the study. Read More

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Gastrostomy for infants with severe epidermolysis bullosa simplex in neonatal intensive care.

Orphanet J Rare Dis 2021 Jun 11;16(1):271. Epub 2021 Jun 11.

Department of Dermatology, CRMRPM-Sud, Université Côte d'Azur, Centre Hospitalier Universitaire de Nice, 06200, Nice, France.

Introduction: Severe epidermolysis bullosa simplex (EBS sev) is a rare genodermatosis characterized by congenital generalized blistering and mucosal involvement. Increased needs and decreased intake quickly lead to nutritional imbalance. Enteral nutrition support is proposed, but classical nasogastric tubes are not well tolerated in these patients and gastrostomy is preferred. Read More

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Clinical Perspectives of Gene-Targeted Therapies for Epidermolysis Bullosa.

Dermatol Ther (Heidelb) 2021 Jun 10. Epub 2021 Jun 10.

Department of Dermatology and Allergology and EB House Austria, University Hospital of the Paracelsus Medical University, Salzburg, Austria.

New insights into molecular genetics and pathomechanisms in epidermolysis bullosa (EB), methodological and technological advances in molecular biology as well as designated funding initiatives and facilitated approval procedures for orphan drugs have boosted translational research perspectives for this devastating disease. This is echoed by the increasing number of clinical trials assessing innovative molecular therapies in the field of EB. Despite remarkable progress, gene-corrective modalities, aimed at sustained or permanent restoration of functional protein expression, still await broad clinical availability. Read More

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Hair follicle stem cell progeny heal blisters while pausing skin development.

EMBO Rep 2021 Jun 4:e50882. Epub 2021 Jun 4.

Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.

Injury in adult tissue generally reactivates developmental programs to foster regeneration, but it is not known whether this paradigm applies to growing tissue. Here, by employing blisters, we show that epidermal wounds heal at the expense of skin development. The regenerated epidermis suppresses the expression of tissue morphogenesis genes accompanied by delayed hair follicle (HF) growth. Read More

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Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease.

Dis Model Mech 2021 Jun 4;14(6). Epub 2021 Jun 4.

Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.

Heterozygous missense mutations in the human COL7A1 gene - coding for collagen VII - lead to the rare, dominantly inherited skin disorder dominant dystrophic epidermolysis bullosa (DDEB), which is characterised by skin fragility, blistering, scarring and nail dystrophy. To better understand the pathophysiology of DDEB and develop more effective treatments, suitable mouse models for DDEB are required but to date none have existed. We identified the two most common COL7A1 mutations in DDEB patients (p. Read More

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Blood high mobility group box 1 levels are not a suitable biomarker for disease activity or severity in non-segmental vitiligo.

Clin Exp Dermatol 2021 Jun 3. Epub 2021 Jun 3.

Department of Dermatology and Cutaneous Biology Research Institute, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.

High mobility group box 1 (HMGB1) is one of intracellular damage associated molecular patterns which is released from keratinocytes in response to external stressors and affects neighboring melanocytes by inducing apoptosis and suppressing melanogenesis. HMGB1 levels in the blood and its expression in skin tissues are increased in psoriasis, alopecia areata, dystrophic epidermolysis bullosa, and vitiligo. Read More

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A Review of Acquired Autoimmune Blistering Diseases in Inherited Epidermolysis Bullosa: Implications for the Future of Gene Therapy.

Antibodies (Basel) 2021 May 17;10(2). Epub 2021 May 17.

Rush University Medical Center, Division of Dermatology, Department of Otorhinolaryngology-Head and Neck Surgery, Rush University, Chicago, IL 60612, USA.

Gene therapy serves as a promising therapy in the pipeline for treatment of epidermolysis bullosa (EB). However, with great promise, the risk of autoimmunity must be considered. While EB is a group of inherited blistering disorders caused by mutations in various skin proteins, autoimmune blistering diseases (AIBD) have a similar clinical phenotype and are caused by autoantibodies targeting skin antigens. Read More

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Impaired Wound Healing, Fibrosis, and Cancer: The Paradigm of Recessive Dystrophic Epidermolysis Bullosa.

Int J Mol Sci 2021 May 12;22(10). Epub 2021 May 12.

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, 233 S. 10th Street, BLSB 406, Philadelphia, PA 19107, USA.

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a devastating skin blistering disease caused by mutations in the gene encoding type VII collagen (C7), leading to epidermal fragility, trauma-induced blistering, and long term, hard-to-heal wounds. Fibrosis develops rapidly in RDEB skin and contributes to both chronic wounds, which emerge after cycles of repetitive wound and scar formation, and squamous cell carcinoma-the single biggest cause of death in this patient group. The molecular pathways disrupted in a broad spectrum of fibrotic disease are also disrupted in RDEB, and squamous cell carcinomas arising in RDEB are thus far molecularly indistinct from other sub-types of aggressive squamous cell carcinoma (SCC). Read More

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A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops.

Genes (Basel) 2021 May 11;12(5). Epub 2021 May 11.

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

Junctional epidermolysis bullosa (JEB) is a clinically and genetically heterogeneous skin fragility disorder frequently caused by mutations in genes encoding the epithelial laminin isoform, laminin-332. JEB patients also present mucosal involvement, including painful corneal lesions. Recurrent corneal abrasions may lead to corneal opacities and visual impairment. Read More

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Pathogenetic Therapy of Epidermolysis Bullosa: Current State and Prospects.

Bull Exp Biol Med 2021 May 29;171(1):109-121. Epub 2021 May 29.

V. I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russian Federation, Moscow, Russia.

Epidermolysis bullosa is a severe hereditary disease caused by mutations in genes encoding cutaneous basement membrane proteins. These mutations lead to dermal-epidermal junction failure and, as a result, to disturbances in the morphological integrity of the skin. Clinically, it manifests in the formation of blisters on the skin or mucosa that in some cases can turn into non-healing chronic wounds, which not only impairs patient's quality of life, but also is a live-threatening condition. Read More

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Advances in gene therapy and their application to skin diseases: A review.

Satoru Shinkuma

J Dermatol Sci 2021 May 21. Epub 2021 May 21.

Department of Dermatology, Nara Medical University School of Medicine, Kashihara, Japan. Electronic address:

With recent advances in genetic engineering technology, gene therapy is now being considered as a treatment not only for congenital diseases but also acquired diseases, such as cancer. Gene therapeutic agents for hereditary immune disorders, haemophilia, retinal diseases, neurodegenerative diseases, and lymphoma have been approved in the United States and Europe. In the field of dermatology, clinical trials of gene therapy have been conducted, because the skin is an easily accessible organ that represents an attractive tissue for gene therapy. Read More

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Prevalence and antimicrobial resistance profile of Staphylococcus aureus in inherited epidermolysis bullosa: a cross-sectional multicenter study in Brazil.

Int J Dermatol 2021 May 28. Epub 2021 May 28.

Service of Dermatology, Irmandade Santa Casa de Misericórdia de Porto Alegre/Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil.

Background: Infection is an important complication of epidermolysis bullosa (EB), and Staphylococcus aureus has been pointed out as the most common pathogen among this population. The objective of this study was to investigate the prevalence and antimicrobial resistance profile of S. aureus colonizing EB patients in Brazil. Read More

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

Acta Derm Venereol 2021 May 27. Epub 2021 May 27.

Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, China.

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. Read More

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Epidermolysis bullosa: Pediatric perspectives.

Curr Pediatr Rev 2021 May 25. Epub 2021 May 25.

Department of Pediatrics, The University of Calgary, and The Alberta Children's Hospital, Calgary, Alberta, Canada.

Epidermolysis bullosa (EB) is a group of rare congenital genetic conditions that result in painful blistering of the skin and mucous membranes which occur with minor trauma or friction. There are many types and subtypes of EB that need to be distinguished, as the management and prognosis of each can vary significantly. We aim to perform an up-to-date literature review on congenital EB for healthcare providers in pediatrics. Read More

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Dapsone Suppresses Disease in Preclinical Murine Models of Pemphigoid Diseases.

J Invest Dermatol 2021 May 23. Epub 2021 May 23.

Department of Dermatology, Allergology, and Venereology, University of Lübeck, Lübeck, Germany; Center for Research on Inflammation of the Skin (CRIS), University of Lübeck, Lübeck, Germany. Electronic address:

Epidermolysis bullosa acquisita and mucous membrane pemphigoid are autoimmune blistering diseases characterized by mucocutaneous blisters elicited by an autoantibody-mediated immune response against specific proteins of the epidermal basement membrane. The antibiotic dapsone is frequently used to treat both diseases, but its therapeutic effectiveness is uncertain, and its mode of action in these diseases is largely unknown. We evaluated the effect of dapsone in antibody transfer mouse models of epidermolysis bullosa acquisita and mucous membrane pemphigoid, which do not allow the drawing of conclusions on clinical treatment regimens but can be instrumental to partially uncover the mode(s) of action of dapsone in these diseases. Read More

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Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB).

J Invest Dermatol 2021 May 20. Epub 2021 May 20.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.

Matrix Biol 2021 May 15. Epub 2021 May 15.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, United States; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, United States. Electronic address:

Epidermolysis bullosa (EB) is a genotypically heterogeneous group of disorders characterized by cutaneous blistering and erosions with a tremendous spectrum of severity. One of the distinct forms of EB, Kindler EB (KEB), manifests with blistering and poikiloderma; this subtype of EB is caused by mutations in the FERMT1 gene encoding kindlin-1. In this study, we investigated a patient clinically diagnosed as KEB with reduced FERMT1 gene expression and intensity of immunostaining for kindlin-1. Read More

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Immunobullous disease.

Clin Med (Lond) 2021 05;21(3):162-165

St John's Institute of Dermatology, London, UK

Immunobullous diseases are blistering cutaneous disorders that are caused by pathogenic antibodies binding to protein targets within the skin. There are a range of immunobullous disorders with characteristic morphology that relates to the structural properties of the target protein. In this article we will describe the pathogenesis, clinical features and treatment of the most common immunobullous disorders. Read More

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A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa.

Eur J Dermatol 2021 Apr;31(2):267-269

Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan, Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan, International Center for Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan.

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Novel mutations of epidermolysis bullosa identified using whole-exome sequencing in Indonesian Javanese patients.

Intractable Rare Dis Res 2021 May;10(2):88-94

Doctoral Study Program, Faculty of Medicine, Public Health and Nursing Universitas Gadjah Mada, Yogyakarta, Indonesia.

Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases known to have heterogenicity of phenotypes and genotypes. There are four main types of EB: simplex, junctional, dystrophic, and Kindler syndrome, which are further classified into 34 distinct subtypes. Twenty different gene mutations are responsible for the loss of function and integrity of the basal membrane zone. Read More

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Anesthetic Challenges of an Adolescent Patient with Epidermolysis Bullosa and Gitelman's Syndrome Undergoing Posterior Spinal Fusion Surgery.

J Pediatr Genet 2021 Jun 25;10(2):152-155. Epub 2020 Apr 25.

Department of Anesthesiology and Pain Management, UT Southwestern Medical Center, Dallas, Texas, United States.

Surgical correction for scoliosis is undertaken to avoid progression to cardiopulmonary compromise as well as improve the patient's overall quality of life. In this case report, we presented a case of a 14-year-old girl with epidermolysis bullosa simplex and Gitelman's syndrome who underwent posterior spinal fusion for scoliosis. The perioperative planning and intraoperative management of a patient with this unique combination of comorbidities undergoing a complex, high-risk surgical procedure were not previously chronicled in the literature. Read More

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Gene Replacement Therapies for Genodermatoses: A .

Front Genet 2021 30;12:658295. Epub 2021 Apr 30.

EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, Salzburg, Austria.

Epidermolysis bullosa (EB) is a genodermatosis, characterized by the formation of extended blisters and lesions on the skin and mucous membranes upon minimal mechanical trauma. The disease is caused by mutations in genes encoding proteins that are essential for skin stability. Functional impairment, reduction, or absence of one of these proteins results in skin fragility due to reduced connectivity between dermis and epidermis. Read More

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Epidermolysis Bullosa in Spain: Observational Study of a Cohort of Patients Treated in a National Referral Center.

Actas Dermosifiliogr 2021 May 10. Epub 2021 May 10.

Servicio de Dermatología, Hospital Universitario La Paz, Madrid, España.

Background And Objective: Epidermolysis bullosa (EB) is a heterogeneous group of inherited disorders characterized by a high degree of mucocutaneous fragility. This study aimed to describe the clinical and epidemiologic characteristics of patients with EB treated in Hospital Universitario La Paz, a national referral center for inherited EB.

Material And Methods: Observational, retrospective, single-center study. Read More

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Genodermatoses in Las Tunas Province, Cuba, 1989-2019.

MEDICC Rev 2021 04 30;23(2):34. Epub 2021 Apr 30.

Provincial Medical Genetics Department, Las Tunas, Cuba.

Introduction: INTRODUCTION Genodermatoses are a group of genetic diseases that affect the skin and adjoining tissues. They represent 15% of genetic diseases worldwide. Cuba established a National Program for the Diagnosis, Care and Prevention of Genetic Diseases and Congenital Abnormalities in 1980, which was implemented in Las Tunas in 1989. Read More

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Recent advances in the induced pluripotent stem cell-based skin regeneration.

Wound Repair Regen 2021 May 10. Epub 2021 May 10.

Department of Applied Biology, Council of Scientific & Industrial Research-Indian Institute of Chemical Technology (CSIR-IICT), Hyderabad, India.

Skin regeneration has been a challenging clinical problem especially in cases of chronic wounds such as diabetic foot ulcers, and epidermolysis bullosa-related skin blisters. Prolonged non-healing wounds often lead to bacterial infections increasing the severity of wounds. Current treatment strategies for chronic wounds include debridement of wounds along with antibiotics, growth factors, and stem cell transplantation therapies. Read More

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Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.

Clin Chem 2021 Jun;67(6):876-888

Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.

Background: Among the approximately 8000 Mendelian disorders, >1000 have cutaneous manifestations. In many of these conditions, the underlying mutated genes have been identified by DNA-based techniques which, however, can overlook certain types of mutations, such as exonic-synonymous and deep-intronic sequence variants. Whole-transcriptome sequencing by RNA sequencing (RNA-seq) can identify such mutations and provide information about their consequences. Read More

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Misdiagnosed dystrophic epidermolysis bullosa pruriginosa: A case report.

World J Clin Cases 2021 May;9(13):3090-3094

Department of Dermatology, Dongzhimen Hospital Affiliated to Beijing University of Chinese Medicine, Beijing 100000, China.

Background: Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of DEB, characterized by recurrent pruritus of the extremities, pruritus papules, nodules, and mossy-like plaques. To date, fewer than 100 cases have been reported. We report a misdiagnosed 30-year-old man with sporadic late-onset DEB-Pr who responded well to tacrolimus treatment, thereby serving as a guide to correct diagnosis and treatment. Read More

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Notch-ing up knowledge on molecular mechanisms of skin fibrosis: focus on the multifaceted Notch signalling pathway.

J Biomed Sci 2021 May 9;28(1):36. Epub 2021 May 9.

Laboratory of Molecular and Cell Biology, IDI-IRCCS, via Monti di Creta 104, 00167, Rome, Italy.

Fibrosis can be defined as an excessive and deregulated deposition of extracellular matrix proteins, causing loss of physiological architecture and dysfunction of different tissues and organs. In the skin, fibrosis represents the hallmark of several acquired (e.g. Read More

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Laminin 332 Is Indispensable for Homeostatic Epidermal Differentiation Programs.

J Invest Dermatol 2021 May 7. Epub 2021 May 7.

Center for Biochemistry, Faculty of Medicine, University of Cologne, Cologne, Germany. Electronic address:

The skin epidermis is attached to the underlying dermis by a laminin 332 (Lm332)-rich basement membrane. Consequently, loss of Lm332 leads to the severe blistering disorder epidermolysis bullosa junctionalis in humans and animals. Owing to the indispensable role of Lm332 in keratinocyte adhesion in vivo, the severity of the disease has limited research into other functions of the protein. Read More

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