6,705 results match your criteria Epidermolysis Bullosa


[Translated article] Effect of Drug Compounding on Quality of Life in Patients With Genodermatoses: A Cross-Sectional Study.

Actas Dermosifiliogr 2022 Jun 27;113(6):T543-T549. Epub 2022 Apr 27.

Servicio de Dermatología, Hospital Universitario de Pontevedra, Pontevedra, Spain.

Background: Cutaneous manifestations are complicated to treat in rare diseases. The main aim of this study was to analyze the impact of compounded drugs prepared by hospital pharmacists on the quality of life of patients with genodermatoses.

Material And Methods: We undertook a cross-sectional study of patients with genodermatoses treated with topical medications compounded and dispensed by the pharmacy at Complejo Hospitalario Universitario in Pontevedra, Spain. Read More

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Current and Innovated Managements for Autoimmune Bullous Skin Disorders: An Overview.

J Clin Med 2022 Jun 19;11(12). Epub 2022 Jun 19.

Department of Dermatology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung 807378, Taiwan.

Autoimmune bullous skin disorders are a group of disorders characterized by the formation of numerous blisters and erosions on the skin and/or the mucosal membrane, arising from autoantibodies against the intercellular adhesion molecules and the structural proteins. They can be classified into intraepithelial or subepithelial autoimmune bullous dermatoses based on the location of the targeted antigens. These dermatoses are extremely debilitating and fatal in certain cases, depending on the degree of cutaneous and mucosal involvement. Read More

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Transcultural Validation of a Spanish Version of the Quality of Life in Epidermolysis Bullosa Questionnaire.

Int J Environ Res Public Health 2022 Jun 9;19(12). Epub 2022 Jun 9.

Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Introduction: Epidermolysis bullosa (EB) is a relatively infrequent genodermatosis for which there is still no cure, and which impacts the quality of life of those that are affected by it. The Quality of Life evaluation in Epidermolysis Bullosa (QoLEB) questionnaire was specifically developed for English-speaking persons with EB.

Objectives: To undertake the transcultural adaptation and analysis of the psychometric properties of a Spanish version of the QoLEB questionnaire. Read More

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Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.

Diagnostics (Basel) 2022 May 27;12(6). Epub 2022 May 27.

Department of Medical Genetics, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania.

Epidermolysis bullosa is a heterogeneous group of rare genetic disorders characterized by mucocutaneous fragility and blister formation after minor friction or trauma. There are four major epidermolysis bullosa types based on the ultrastructural level of tissue cleavage: simplex, junctional, dystrophic, and Kindler epidermolysis bullosa. They are caused by mutations in genes that encode the proteins that are part of the hemidesmosomes and focal adhesion complex. Read More

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Analysis of existing "how to" manuals for the care of inpatients with epidermolysis bullosa.

Pediatr Dermatol 2022 Jun 22. Epub 2022 Jun 22.

Department of Dermatology, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA.

"How to" skin care manuals assist health care professionals caring for hospitalized patients with epidermolysis bullosa and other disorders. Manuals created by Epidermolysis Bullosa Clinical Research Consortium sites were collected and analyzed. Analysis of manuals revealed variable content. Read More

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A literature review on Janus kinase (JAK) inhibitors for the treatment of immunobullous disorders.

Int Immunopharmacol 2022 Jun 16;110:108923. Epub 2022 Jun 16.

Rasool Akram Medical Complex Clinical Research Development Center (RCRDC), School of Medicine, Iran University of Medical Sciences, Tehran, Iran; Skin and Stem Cell Research Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

Janus kinases (JAKs) are a group of intracytoplasmic tyrosine kinase proteins that bind to the cytoplasmic part of the transmembrane cytokine receptors and regulate signaling. The pathophysiology of various autoimmune and autoinflammatory conditions relies on JAK/STAT signaling and therefore, the inhibition of JAK/STAT pathways can be a promising treatment for such diseases, especially inflammatory skin conditions. The current study aimed to evaluate the efficacy of JAK inhibitors in the treatment of immunobullous diseases, including pemphigus, pemphigoid, dermatitis herpetiformis, and epidermolysis bullosa. Read More

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First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate.

BMC Med Genomics 2022 Jun 18;15(1):136. Epub 2022 Jun 18.

Center for Reproductive Medicine, Changhai Hospital, Naval Medical University, Shanghai, China.

Background: Uniparental disomy (UPD) is a condition in which both chromosomes are inherited from the same parent, except for imprinting disorders. Uniparental isodisomy (UPiD) may result in a homozygous variant contributing to an autosomal recessive disorder in the offspring of a heterozygous carrier. Junctional epidermolysis bullosa intermediate (JEB intermediate) is an autosomal recessive inherited disease that is associated with a series of gene variants, including those of COL17A1. Read More

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Hematohidrosis, Hemolacria, and "Trichorrhage": A Systematic Review.

Skin Appendage Disord 2022 May 3;8(3):179-185. Epub 2022 Jan 3.

Instituto Dermatológico de Jalisco, Guadalajara, Mexico.

Introduction: Hematohidrosis and hemolacria are 2 conditions surrounded in religiousness, mysticism, and supernatural superstitions. While the mechanism is still unclear, these cases have amazed physicians for centuries.

Methods: We performed a systematic review in PubMed from 2000 to mid-2021 accounting for 75 studies from which we included 60 cases in 53 articles which were described. Read More

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Epidermolysis bullosa acquisita.

An Bras Dermatol 2022 Jun 11. Epub 2022 Jun 11.

Department of Dermatology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

Epidermolysis bullosa acquisita is a rare autoimmune disease, characterized by the synthesis of anti-collagen VII autoantibodies, the main component of hemidesmosome anchoring fibrils. The antigen-antibody binding elicits a complex inflammatory response, which culminates in the loss of dermo-epidermal adhesion of the skin and/or mucous membranes. Skin fragility with bullae, erosions, and milia in areas of trauma characterizes the mechanobullous form of the disease. Read More

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Kinase inhibition by PKC412 prevents epithelial sheet damage in autosomal dominant epidermolysis bullosa simplex via keratin and cell contact stabilization.

J Invest Dermatol 2022 Jun 9. Epub 2022 Jun 9.

Institute of Biology, Division of Cell and Developmental Biology, Leipzig University, Leipzig, Germany.

Epidermolysis bullosa simplex (EBS) is a severe and potentially life-threatening disorder for which no adequate therapy exists. Most cases are caused by dominant mutations in keratins KRT5 or KRT14, leading to the formation of cytoplasmic keratin aggregates, profound keratinocyte fragility and cytolysis. We hypothesized that pharmacological reduction of keratin aggregates, which compromise keratinocyte integrity, represents a viable strategy for the treatment of EBS. Read More

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Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa.

Mol Ther 2022 Jun 10. Epub 2022 Jun 10.

Department of Dermatology, Gangnam Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul 06273, South Korea. Electronic address:

Recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin fragility disorder caused by loss-of-function mutations in the COL7A1 gene, which encodes type VII collagen (C7), a protein that functions in skin adherence. From 36 Korean RDEB patients, we identified a total of 69 pathogenic mutations (40 variants without recurrence), including point mutations (72.5%) and insertion/deletion mutations (27. Read More

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Oral Alterations in Heritable Epidermolysis Bullosa: A Clinical Study and Literature Review.

Biomed Res Int 2022 31;2022:6493156. Epub 2022 May 31.

Department of General Surgery and Surgical-Medical Specialties, School of Dentistry, University of Catania, AOU "Policlinico-San Marco", Via S. Sofia 78, 95124 Catania, Italy.

Epidermolysis bullosa (EB) is a group of skin disorders with skin fragility characterized by blistering from minimal mechanical trauma with rupture at the dermoepidermal junction. There are four major classical heritable EB types, due to mutations in as many as 20 distinct genes: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler EB (KEB). This study is aimed at reporting case series on patients ( = 8; males, = 5 and females, = 3, age range 12-68 years) affected by EB and performs a review of the literature on this topic. Read More

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Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes.

Indian J Dermatol 2022 Jan-Feb;67(1):45-49

Department of Cell Biology, Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, Telangana, India.

Epidermolysis bullosa (EB) is a group of rare inherited conditions that results in blistering of the skin and mucous membranes. Mutations in the PLEC gene cause epidermolysis bullosa simplex (EBS). Mutations in type VII collagen, encoded by COL7A1 lead to epidermolysis bullosa dystrophica (EBD). Read More

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Serological Biomarkers and Their Detection in Autoimmune Bullous Skin Diseases.

Dermatol Pract Concept 2022 May 1;12(2):e2022116. Epub 2022 Apr 1.

EUROIMMUN US Inc, 1 Bloomfield Ave, Mountain Lakes, New Jersey, United States.

Autoimmune bullous diseases (AIBDs) are a group of skin-related disorders that involve damage to structures maintaining cell-cell adhesion, such as desmosomes and hemidesmosomes. Key AIBDs include pemphigus related diseases, pemphigoid related conditions, acquired epidermolysis bullosa (EBA), and dermatitis herpetiformis (DH). Each group of conditions exhibits characteristic clinical lesion patterns and is associated with specific autoantibodies targeting epidermal and dermal structures involved in cell-cell adhesion and skin integrity. Read More

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Integrated Management Strategies for Epidermolysis Bullosa: Current Insights.

Int J Gen Med 2022 24;15:5133-5144. Epub 2022 May 24.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Epidermolysis bullosa (EB) is a group of rare genodermatoses that is characterized by skin fragility resulting from minor trauma. There are four major subtypes, namely, EB simplex, junctional EB, dystrophic EB and Kindler EB, depending upon the localization of defective protein and resulting plane of blister formation. The phenotype is heterogeneous in terms of severity and majority of them present at birth or neonatal period. Read More

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T-cell activation and bacterial infection in skin wounds of recessive dystrophic epidermolysis bullosa patients.

Exp Dermatol 2022 May 27. Epub 2022 May 27.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

Recessive dystrophic epidermolysis bullosa (RDEB) patients develop poorly healing skin wounds that are frequently colonized with microbiota. Because T cells play an important role in clearing such pathogens, we aimed to define the status of adaptive T cell-mediated immunity in RDEB wounds. Using a non-invasive approach for sampling of wound-associated constituents, we evaluated microbial contaminants in cellular fraction and exudates obtained from RDED wounds. Read More

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Assessing quality of life in patients with autoimmune bullous diseases using the Persian version of Treatment of Autoimmune Bullous Disease Quality of Life questionnaire finds similar effects in women as men.

Int J Womens Dermatol 2022 Mar 21;8(1):e004. Epub 2022 Mar 21.

Autoimmune Bullous Disease Research Center, Razi Hospital, Department of Dermatology, Tehran University of Medical Sciences, Tehran, Iran.

In autoimmune bullous diseases (AIBDs), autoantibodies loosen molecular adhesions in the skin and/or mucosa and lead to blisters and erosions. Immunosuppressive drugs reduce mortality of the AIBD; therefore, patients will have to live longer with comorbidities.

Objective: This study aims to determine the quality of life of AIBD patients undergoing systemic treatment while investigating the survey's relationship with various factors. Read More

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The association of six autoimmune bullous diseases with thyroid disorders: a population-based study.

J Eur Acad Dermatol Venereol 2022 May 25. Epub 2022 May 25.

Lűbeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.

Background: The association of autoimmune bullous diseases (AIBDs) with thyroid disorders remains to be profoundly investigated.

Objective: To evaluate the epidemiological association between six AIBDs and thyroid disorders.

Methods: A population-based cross-sectional study enrolled patients with bullous pemphigoid (BP), mucous membrane pemphigoid (MMP), epidermolysis bullosa acquisita (EBA), pemphigoid gestationis (PG), pemphigus vulgaris (PV) and pemphigus foliaceus (PF). Read More

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Reply to 'A case of dystrophic epidermolysis bullosa pruriginosa treated with dupilumab' by Caroppo et al.

J Eur Acad Dermatol Venereol 2022 May 23. Epub 2022 May 23.

Dermatology Unit, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.

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Stomatological management and implant-supported rehabilitation in a patient with recessive dystrophic epidermolysis bullosa.

Clin Case Rep 2022 May 16;10(5):e05813. Epub 2022 May 16.

Department of Stomatology, Oral and Maxillofacial Surgery Hôpital Erasme Université libre de Bruxelles Brussels Belgium.

Inherited epidermolysis bullosa (EB) is a disease that causes epithelium fragility due to a protein anomaly caused by a genetic mutation. Epidermolysis bullosa clinical manifestations are bullae and cutaneous-mucosal erosions. Epidermolysis bullosa is a rare disease, with different clinical presentations depending on the type and subtype. Read More

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The joint battle to tackle epidermolysis bullosa through gene therapy.

Trends Mol Med 2022 Jul 19;28(7):533-535. Epub 2022 May 19.

Centre for Regenerative Medicine 'Stefano Ferrari', University of Modena and Reggio Emilia, Modena, Italy. Electronic address:

Efforts are dedicated to definitively tackle skin lesions plaguing patients with epidermolysis bullosa (EB), a devastating genetic disorder affecting the integumentary system. Both in vivo gene therapy, as recently reported by Gurevich et al., and combined ex vivo cell and gene therapy strategies are under investigation. Read More

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[Variation of COL7A1 gene in dystrophic epidermolysis bullosa pruriginosa].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2022 May;39(5):518-521

Department of Dermatology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Henan University People's Hospital, Zhengzhou, Henan 450003, China.

Objective: To perform gene mutation analysis in a Chinese pedigree with dystrophic epidermolysis bullosa pruriginosa (DEB-Pr), and explore phetotype, genotype, and genotypes-phenotypes relationship of DEB-Pr.

Methods: Potential variants of the COL7A1 gene were detected by skin targeted sequencing panel and verified by Sanger sequencing. The pathogenicity of the variation was analyzed. Read More

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Purified oral cannabidiol for pain management in severe recessive dystrophic epidermolysis bullosa.

Indian J Dermatol Venereol Leprol 2022 May 9:1-2. Epub 2022 May 9.

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

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Restoring type VII collagen in skin.

Med (N Y) 2022 05 13;3(5):273-275. Epub 2022 May 13.

St John's Institute of Dermatology, King's College London (Guy's Campus), London SE1 9RT, UK. Electronic address:

New therapeutic hope is emerging for people with the rare inherited blistering skin disease recessive dystrophic epidermolysis bullosa (RDEB). Gurevich et al. have reported early-phase clinical trial data evaluating a topical herpes simplex virus 1 vector to restore missing type VII collagen in RDEB skin and heal wounds. Read More

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A rare homozygous missense mutation of COL7A1 in a Vietnamese family.

Hum Genome Var 2022 May 17;9(1):13. Epub 2022 May 17.

Yokohama City University Graduate School of Medicine, Yokohama, Japan.

We present a homozygous missense mutation in the COL7A1 gene (NM_000094.4: c.6262G>A, p. Read More

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Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India.

Am J Med Genet A 2022 May 17. Epub 2022 May 17.

Centre for Human Genetics, Biotech Park, Bangalore, Karnataka, India.

Epidermolysis bullosa simplex (EBS) with plectin mutations is a very rare subtype of EB usually associated with pyloric atresia (PA) or muscular dystrophy (MD). We report six unrelated children between ages 4 and 14 years from India with varied clinical manifestations. Only one had PA, and none has developed MD to date. Read More

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Characterization of the epidermal-dermal junction in hiPSC-derived skin organoids.

Stem Cell Reports 2022 Jun 12;17(6):1279-1288. Epub 2022 May 12.

Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, the Netherlands; LUMC hiPSC Hotel, Leiden University Medical Center, Leiden, the Netherlands; University of Grenoble Alpes, CEA, INSERM, IRIG-BIOMICS, Grenoble, France. Electronic address:

Human induced pluripotent stem cell (hiPSC)-derived hair-bearing skin organoids offer exciting new possibilities for modeling diseases like epidermolysis bullosa (EB). These inherited diseases affect 1 in 30,000 people worldwide and result from perturbed expression and/or structure of components of the epidermal-dermal junction (EDJ). To establish whether hiPSC-derived skin organoids might be able to capture salient features of EB, it is thus important to characterize their EDJ. Read More

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