5,878 results match your criteria Epidermolysis Bullosa


Silver Impregnated Foam Dressings Over Circumferentially Involved Curved Surfaces in Epidermolysis Bullosa Hand Surgery.

J Am Acad Dermatol 2019 Apr 16. Epub 2019 Apr 16.

Department of Dermatology, Venereology & Leprology and Department of Histopathology, PGIMER, Chandigarh- 160012. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01909622193061
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http://dx.doi.org/10.1016/j.jaad.2019.04.026DOI Listing
April 2019
1 Read

An overview of the genetic basis of Epidermolysis Bullosa in Brazil: discovery of novel and recurrent disease-causing variants.

Clin Genet 2019 Apr 19. Epub 2019 Apr 19.

Postgraduate Program in Genetics and Molecular Biology, Department of Genetics, Biosciences Institute, Universidade Federal do Rio Grande do Sul, Brazil.

Epidermolysis Bullosa (EB) is a genodermatosis that encompasses a group of clinically and genetically heterogeneous disorders classified in four major types: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. Our aim was to characterize recurrent and novel mutations associated to EB in a sample of Brazilian patients. Eighty-seven patients (25 EBS, 4 JEB and 58 DEB) were studied. Read More

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http://dx.doi.org/10.1111/cge.13555DOI Listing

Extended Wear Bandage Contact Lenses Decrease Pain and Preserve Vision in Patients with Epidermolysis Bullosa: Case Series and Review of Literature.

Ocul Immunol Inflamm 2019 Apr 15:1-5. Epub 2019 Apr 15.

d Tufts Medical Center , Boston , MA , USA.

Purpose: To demonstrate the therapeutic benefit of extended wear bandage contact lens (BCL) use in patients with epidermolysis bullosa (EB) suffering from recurrent, painful, and slow-to-heal corneal epithelial defects.

Methods: Case reports of three patients.

Results: We report ophthalmic treatment of three pediatric patients, two with recessive dystrophic EB (RDEB) and one with junctional EB (JEB), who suffered frequently recurrent corneal abrasions and were treated with 30-day extended-wear bandage contact lenses (BCLs), replaced every month for at least 1 year. Read More

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https://www.tandfonline.com/doi/full/10.1080/09273948.2019.1
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http://dx.doi.org/10.1080/09273948.2019.1587472DOI Listing
April 2019
1 Read

Possible involvement of IgE antibody in epidermolysis bullosa acquisita: detection and correlation.

Eur J Dermatol 2019 Apr 10. Epub 2019 Apr 10.

Department of Dermatology, Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8575, Japan.

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http://dx.doi.org/10.1684/ejd.2019.3497DOI Listing

Wundheilungsstörungen während der antitumorösen Therapie mit Cetuximab bei schwerer generalisierter dystropher Epidermolysis bullosa.

J Dtsch Dermatol Ges 2019 04;17(4):448-450

Universitätsklinik für Dermatologie, Uniklinikum der Paracelsus Medizinischen Privatuniversität Salzburg, Salzburg, Österreich.

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http://dx.doi.org/10.1111/ddg.13802_gDOI Listing

Milia within resolving bullous pemphigoid lesions.

Proc (Bayl Univ Med Cent) 2019 Jan 14;32(1):90-92. Epub 2019 Jan 14.

Texas A&M College of Medicine, College StationTexas.

Bullous pemphigoid (BP) is a blistering dermatosis characterized by an autoimmune response to two hemidesmosomal proteins, BP180 and BP230. We describe a case of an 80-year-old man diagnosed with BP by clinical features, histopathology, and immunosorbent assay who developed milia within resolving BP lesions. Milia formation during recovery is common in cases of mucous membrane pemphigoid and epidermolysis bullosa acquisita but has rarely been reported in cases of BP. Read More

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http://dx.doi.org/10.1080/08998280.2018.1528962DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442898PMC
January 2019
4 Reads

Induced pluripotent stem cell (iPSC) line from an epidermolysis bullosa simplex patient heterozygous for keratin 5 E475G mutation and with the Dowling Meara phenotype.

Stem Cell Res 2019 Mar 27;37:101424. Epub 2019 Mar 27.

Medical Center for Molecular Biology, Faculty of Medicine, University of Ljubljana, Slovenia. Electronic address:

We have generated MLi002-A, a new induced pluripotent stem cell (iPSC) line derived from keratinocytes of a skin punch biopsy of a female patient with the severe epidermolysis bullosa simplex Dowling-Meara phenotype and the keratin K5 E475G mutation. Keratinocytes were reprogrammed using non-integrating Sendai virus vectors, and xeno-free culture conditions were used throughout. The characterization of MLi002-A cell line consisted of molecular karyotyping, mutation screening using restriction enzyme digestion and Sanger sequencing, and testing of the pluripotency and differentiation potentials by immunofluorescence of associated markers both in vitro and in vivo. Read More

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http://dx.doi.org/10.1016/j.scr.2019.101424DOI Listing
March 2019
2 Reads

Time to drop the stigma: cannabinoids are drugs that may alleviate pain in people with epidermolysis bullosa.

Authors:
A E Martinez

Br J Dermatol 2019 Apr;180(4):711-712

Paediatric Dermatology, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, U.K.

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http://dx.doi.org/10.1111/bjd.17619DOI Listing

Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing.

Mol Ther 2019 Mar 15. Epub 2019 Mar 15.

Department of Biomedical Engineering, Carlos III University (UC3M), Madrid, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) U714, Madrid, Spain; Fundación Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, Madrid, Spain; Epithelial Biomedicine Division, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), Madrid, Spain. Electronic address:

Gene editing constitutes a novel approach for precisely correcting disease-causing gene mutations. Frameshift mutations in COL7A1 causing recessive dystrophic epidermolysis bullosa are amenable to open reading frame restoration by non-homologous end joining repair-based approaches. Efficient targeted deletion of faulty COL7A1 exons in polyclonal patient keratinocytes would enable the translation of this therapeutic strategy to the clinic. Read More

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http://dx.doi.org/10.1016/j.ymthe.2019.03.007DOI Listing
March 2019
3 Reads

Revertant Mosaic Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa.

Br J Dermatol 2019 Mar 29. Epub 2019 Mar 29.

Stem Cell Institute, University of Minnesota, Minneapolis, MN, U.S.A.

Background: Revertant mosaicism has been described previously in recessive dystrophic epidermolysis bullosa (RDEB), manifesting as regions of skin with normal mechanical and biological characteristics. Here we report the discovery of revertant dermal fibroblasts, unique in that all other documented cases of revertant mosaicism occur in epidermal keratinocytes.

Objectives: We sought to determine the cause of revertant mosaicism found in an RDEB patient from isolated epidermal keratinocytes and dermal fibroblasts in blister and mosaic skin regions. Read More

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http://dx.doi.org/10.1111/bjd.17943DOI Listing

Orofacial management for epidermolysis bullosa during wisdom tooth removal surgery: A technical note.

J Stomatol Oral Maxillofac Surg 2019 Mar 22. Epub 2019 Mar 22.

Department of maxillofacial surgery, university institute of the face and neck, university hospital of Nice, 31, avenue de Valombrose, 06100 Nice, France. Electronic address:

Introduction: Epidermolysis bullosa (EB) is a heterogeneous group of genetic diseases characterized by cutaneous and/or mucosal fragility. Blisters can occur spontaneously or because of minor friction on facial skin or the oral cavity. The repercussions of these dermatoses complicate the management of patients during surgery; for example, wisdom teeth removal might be complicated because of the limited mouth opening and mucosal lesions may be aggravated when the area of the wisdom teeth is being explored. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S24687855193010
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http://dx.doi.org/10.1016/j.jormas.2019.03.007DOI Listing
March 2019
8 Reads

Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta.

J Dent Res 2019 Mar 24:22034519835205. Epub 2019 Mar 24.

7 School of Dentistry, University of Leeds, Leeds, UK.

Amelogenesis imperfecta (AI) is a heterogeneous group of inherited disorders characterized by abnormal formation of dental enamel, either in isolation or as part of a syndrome. Heterozygous variants in laminin subunit beta 3 ( LAMB3) cause AI with dominant inheritance in the absence of other cosegregating clinical features. In contrast, biallelic loss-of-function variants in LAMB3 cause recessive junctional epidermolysis bullosa, characterized by life-threatening skin fragility. Read More

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http://dx.doi.org/10.1177/0022034519835205DOI Listing

Impact of Painful Wound Care in Epidermolysis Bullosa During Childhood: An Interview Study with Adult Patients and Parents.

Acta Derm Venereol 2019 Mar 21. Epub 2019 Mar 21.

Department of Dermatology, University Medical Center Groningen, Hanzeplein 1, NL-9700 RB Groningen, The Netherlands.

Epidermolysis bullosa (EB) is a group of rare inherited bullous skin disorders that differ in nature and severity. Currently, there is no cure for the disease. One of the complex problems of EB is the repetitive and painful care of skin wounds. Read More

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http://dx.doi.org/10.2340/00015555-3179DOI Listing
March 2019
1 Read

[Epidermolysis bullosa acquisita].

Hautarzt 2019 Apr;70(4):265-270

Universitäts-Hautklinik Kiel, Klinik für Dermatologie, Venerologie und Allergologie, UKSH Kiel, Kiel, Deutschland.

Epidermolysis bullosa acquisita (EBA) is a rare acquired subepidermal bullous autoimmune dermatosis, associated with autoantibodies against collagen type VII, the most important component of dermal anchoring fibrils. Blister induction occurs after binding of autoantibodies to collagen type VII, leading to complement activation, recruitment of neutrophils and secretion of proteases. Clinically, the disease is mostly characterized by tense blisters on trauma-exposed body areas which heal with scarring (mechanobullous form of EBA). Read More

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http://dx.doi.org/10.1007/s00105-019-4387-7DOI Listing
April 2019
1 Read

Laryngeal lesion associated with epidermolysis bullosa secondary to congenital plectin deficiency.

Eur Ann Otorhinolaryngol Head Neck Dis 2019 Mar 14. Epub 2019 Mar 14.

ORL et chirurgie cervicofaciale pédiatrique, hôpital Jeanne-de-Flandre, CHRU Lille, avenue Eugène-Avinée, 59037 Lille cedex, France. Electronic address:

Introduction: Epidermolysis bullosa (EB) is a congenital disease characterized by fragility of epithelial structures. The skin is the organ primarily affected, resulting in the formation of skin blisters. Some forms of EB may also present mucosal lesions. Read More

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http://dx.doi.org/10.1016/j.anorl.2019.02.009DOI Listing

Epidemiology and natural history of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients: 20 years' experience of a reference centre in Spain.

Clin Transl Oncol 2019 Mar 12. Epub 2019 Mar 12.

Department of Dermatology, La Paz University Hospital, Madrid, Spain.

Background: Cutaneous squamous cell carcinoma (cSCC) is the leading cause of death in patients with recessive dystrophic epidermolysis bullosa (RDEB). We provide the management and prognosis of cSCC in RDEB patients at a Spanish reference center.

Materials And Methods: We retrospectively included patients with RDEB attended in La Paz University Hospital from November 1988 to October 2018. Read More

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http://dx.doi.org/10.1007/s12094-019-02073-3DOI Listing

A nutrition-based approach to epidermolysis bullosa: Causes, assessments, requirements and management.

Clin Nutr 2019 Feb 21. Epub 2019 Feb 21.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatria Alta Intensità di Cura, 20122, Milano, Italy.

Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of rare diseases characterized by skin and mucous membrane fragility. EB primarily involves the skin and, in specific subtypes, the mucous membrane, resulting in complications which can strongly affect nutritional status (e.g. Read More

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http://dx.doi.org/10.1016/j.clnu.2019.02.023DOI Listing
February 2019
2 Reads

The Wound Healing Properties of Betulin from Birch Bark from Bench to Bedside.

Authors:
Armin Scheffler

Planta Med 2019 Mar 11. Epub 2019 Mar 11.

Niefern-Öschelbronn, Germany.

With central European approval in January 2016 for a betulin-oleogel (Episalvan), used to accelerate wound closure in partial thickness wounds, the herbal active ingredient triterpene dry extract (betulin), from birch bark, was introduced into therapy for the first time. Clinical evidence of accelerated wound healing was provided in a new study design by means of intraindividual comparison of split-thickness skin graft donor wounds and burn wounds. Clinical results of a phase II study evidencing accelerated wound healing in the rare disease epidermolysis bullosa are also available, and a pivotal multi-centre phase III study is currently being conducted. Read More

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http://dx.doi.org/10.1055/a-0850-0224DOI Listing
March 2019
2 Reads

Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma.

Clin Cancer Res 2019 Mar 7. Epub 2019 Mar 7.

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania.

Squamous cell carcinoma (SCC) of the skin is the leading cause of death in patients with the severe generalized form of the genetic disease recessive dystrophic epidermolysis bullosa (RDEB). Although emerging data are identifying why patients suffer this fatal complication, therapies for treatment of RDEB SCC are in urgent need. We previously identified polo-like kinase 1 (PLK1) as a therapeutic target in skin SCC, including RDEB SCC. Read More

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http://dx.doi.org/10.1158/1078-0432.CCR-18-2661DOI Listing
March 2019
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Bone marrow transplant with post-transplant cyclophosphamide for recessive dystrophic epidermolysis bullosa expands the related donor pool and permits tolerance of non-hematopoietic cellular grafts.

Br J Dermatol 2019 Mar 6. Epub 2019 Mar 6.

Division of Blood and Marrow Transplantation, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, MN, USA.

Background: Recessive dystrophic epidermolysis bullosa (RDEB) is a severe systemic genodermatosis lacking therapies beyond supportive care for its extensive, life-limiting manifestations.

Objectives: We report the safety and preliminary responses of 10 RDEB patients to bone marrow transplant with post-transplant cyclophosphamide (PTCy BMT) following reduced-intensity conditioning with subsequent infusions of immunomodulatory donor-derived mesenchymal stromal cells (median follow-up of 16 months).

Methods: BMT toxicities, donor blood and skin engraftment, skin biopsies, medical photography, and dynamic assessments of RDEB disease activity by providers and parents were obtained at intervals from pre- to 1 year post-BMT. Read More

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http://dx.doi.org/10.1111/bjd.17858DOI Listing
March 2019
1 Read

Cloning and Mutagenesis Strategies for Large Collagens.

Methods Mol Biol 2019 ;1944:3-15

Department of Dermatology, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany.

The size and relatively high GC content of cDNAs are challenges for efficient targeted engineering of large collagens. There are both basic biological and therapeutic interests in the ability to modify collagens, as this would allow for studies precisely describing interactions of collagens with specific interaction partners, addressing consequences of individual disease-causing mutations, and assessing therapeutic applicability of precision medicine approaches. Using collagen VII as an example, we will here describe a strategy for rapid and simple modification of cDNAs encoding large collagens. Read More

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http://link.springer.com/10.1007/978-1-4939-9095-5_1
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http://dx.doi.org/10.1007/978-1-4939-9095-5_1DOI Listing
January 2019
1 Read

Type I leucocyte adhesion deficiency in Yemenian family managed with appropriate treatment: A case series.

Dermatol Ther 2019 Mar 5:e12864. Epub 2019 Mar 5.

Department of dermatology, University of Science and Technology Hospital, Sana'a, Yemen.

Primary immunodeficiencies are rare, inherited diseases, characterized by altered function or absence of immune cells. Among them is leukocyte adhesion deficiency Type I (LAD-I), an autosomal recessive disorder characterized by primary immunodeficiency, caused by mutations in the ITGB2 gene which produces inability of leucocytes to migrate toward the area of inflammation and is associated with recurrent life-threatening bacterial and fungal infections. Pyoderma gangrenosum (PG) is an uncommon noninfectious neutrophilic dermatosis, characterized by recurrent, necrotic ulcers. Read More

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http://dx.doi.org/10.1111/dth.12864DOI Listing
March 2019
5 Reads

Efficient gene reframing therapy for recessive dystrophic epidermolysis bullosa using CRISPR/Cas9.

J Invest Dermatol 2019 Mar 1. Epub 2019 Mar 1.

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

The CRISPR/Cas9 system induces site-specific double-strand breaks (DSBs), which stimulate cellular DNA repair through either the homologous recombination (HR) or non-homologous end-joining (NHEJ) pathways. The NHEJ pathway, which is activated more frequently than HR, is prone to introducing small insertions and/or deletions at the DSB site, leading to changes in the reading frame. We hypothesized that the NHEJ pathway is applicable to genetic diseases caused by a frameshift mutation through restoration of the reading frame. Read More

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http://dx.doi.org/10.1016/j.jid.2019.02.015DOI Listing
March 2019
4 Reads

Wound healing deficits in severe generalized recessive dystrophic epidermolysis bullosa along anticancer treatment with cetuximab.

J Dtsch Dermatol Ges 2019 04 1;17(4):448-450. Epub 2019 Mar 1.

Department of Dermatology, University Hospital of the Paracelsus Medical University Salzburg, Salzburg, Austria.

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http://dx.doi.org/10.1111/ddg.13802DOI Listing

Image Gallery: Multiple localized lipoatrophy in recessive dystrophic epidermolysis bullosa.

Br J Dermatol 2019 Mar;180(3):e64

Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, North 15 West 7, Kita-ku, Sapporo, 060-8638, Japan.

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http://dx.doi.org/10.1111/bjd.17356DOI Listing

Implants in patients with oral manifestations of autoimmune or muco-cutaneous diseases - A systematic review.

Med Oral Patol Oral Cir Bucal 2019 Mar 1;24(2):e217-e230. Epub 2019 Mar 1.

Charité - Universitaetsmedizin Berlin, Charité Centre 3 for Dental, Oral, and Maxillary Medicine, Department for Oral Medicine Dental Radiology, and Oral Surgery, Assmannshauser Str. 4-6, 14197 Berlin, Germany,

Background: To give an overview on implant survival rates in patients with oral manifestations of systemic autoimmune (oral Lichen planus (oLp), Pemphigus (Pe)), muco-cutaneous (Epidermolysis bullosa (EB)), autoimmune multisystemic rheumatic diseases (Sjögren's syndrome (SjS), systemic Lupus erythematosus (sLE), or systemic Sclerosis (sSc)).

Material And Methods: Systematic literature review (PubMed/Medline, Embase) using MESH and search term combinations, published between 1980 and August 2018 in English language reporting on dental implant-prosthetic rehabilitation of patients with oLp, Pe, EB, SjS, sLE, sSc, study design, age, gender, follow-up period (≥ 12 months), implant survival rate. Implant-related weighed mean values of implant survival rate (wmSR) were calculated. Read More

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http://www.medicinaoral.com/medoralfree01/aop/22786.pdf
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http://dx.doi.org/10.4317/medoral.22786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6441598PMC
March 2019
7 Reads

miR-145-5p regulates fibrotic features of recessive dystrophic epidermolysis bullosa skin fibroblasts.

Br J Dermatol 2019 Feb 28. Epub 2019 Feb 28.

Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy.

Background: Recessive dystrophic epidermolysis bullosa (RDEB) is a skin fragility disorder caused by mutations in the COL7A1 gene encoding type VII collagen, a cutaneous basement membrane component essential for epidermal-dermal adhesion. Hallmarks of the disease are unremitting blistering and chronic wounds with severe inflammation and fibrosis. microRNAs are post-transcriptional regulators of gene expression also implicated in fibrotic processes. Read More

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http://dx.doi.org/10.1111/bjd.17840DOI Listing
February 2019
1 Read

Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work.

J Dermatol 2019 Feb 27. Epub 2019 Feb 27.

Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

A Chinese female infant presented with ectodermal dysplasia, cleft palate and severe skin erosions at birth. Although all the typical clinical features of ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome were present, the ankyloblepharon was not very marked. We misdiagnosed epidermolysis bullosa and congenital ichthyosiform erythroderma at first and confirmed the diagnosis of AEC syndrome only when she presented with the typical clinical manifestation of recurrent infected scalp erosions at 1 year of age. Read More

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http://dx.doi.org/10.1111/1346-8138.14837DOI Listing
February 2019
2 Reads

A Nonjunctional, Nonsyndromic Case of Junctional Epidermolysis Bullosa With Renal and Respiratory Involvement.

JAMA Dermatol 2019 Feb 20. Epub 2019 Feb 20.

Bruce and Ruth Rappaport Faculty of Medicine, Technion, Haifa, Israel.

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http://dx.doi.org/10.1001/jamadermatol.2018.5368DOI Listing
February 2019
1 Read

Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine.

Front Med (Lausanne) 2018 29;5:363. Epub 2019 Jan 29.

Department of Dermatology and Venerology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Junctional epidermolysis bullosa (JEB) is a hereditary blistering disease caused by reduced dermal-epidermal adhesion due to deficiencies of one of the proteins, laminin-332, type XVII collagen, integrin α6β4 or integrin α3. Significant progress has been achieved in the development of therapies for EB, such as bone-marrow transplantation, local or systemic injections with fibroblasts or mesenchymal stromal cells, readthrough of premature termination codons, or exon skipping. These were tailored in particular for dystrophic EB, which is caused by type VII collagen deficiency and have not yet reached broad clinical practice. Read More

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http://dx.doi.org/10.3389/fmed.2018.00363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362712PMC
January 2019

Anaesthetic management of a rare case of paediatric epidermolysis bullosa.

Indian J Anaesth 2019 Jan;63(1):73-74

Department of Anaesthesiology and Critical Care, Armed Forces Medical College, Pune, Maharashtra, India.

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http://dx.doi.org/10.4103/ija.IJA_595_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341888PMC
January 2019
1 Read

Junctional Epidermolysis Bullosa in a Neonate.

Indian Pediatr 2018 Dec;55(12):1107-1108

Pediatric Neurology Unit, Department of Pediatrics, PGIMER, Chandigarh, India.

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December 2018
1.014 Impact Factor

Extracellular matrix-mediated regulation of cancer stem cells and chemoresistance.

Int J Biochem Cell Biol 2019 Apr 8;109:90-104. Epub 2019 Feb 8.

Gynecology Oncology Research Group, School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan, NSW, Australia; Hunter Medical Research Institute, New Lambton Heights, NSW, Australia. Electronic address:

The identity of cancer stem cells (CSCs) remains an enigma, with the question outstanding of whether CSCs are fixed entities or plastic cell states in response to microenvironmental cues. Recent evidence highlights the power of the tumor microenvironment to dictate CSC functionality and spatiotemporal regulation that gives rise to tumor heterogeneity. This microenvironmental regulation of CSCs parallels that of normal tissues, whereby resident stem cells reside within specialized microenvironments or 'niches', which provide the cellular and molecular signals that wire every aspect of stem cell behavior and fate. Read More

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http://dx.doi.org/10.1016/j.biocel.2019.02.002DOI Listing
April 2019
7 Reads

Potential therapeutic targeting of inflammation in epidermolysis bullosa simplex.

Authors:
J E Mellerio

Br J Dermatol 2019 Feb;180(2):258-260

St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, SE1 7EH, U.K.

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http://dx.doi.org/10.1111/bjd.17106DOI Listing
February 2019

Long-term evolving profile of childhood autoimmune blistering diseases: Retrospective study on 38 children.

J Eur Acad Dermatol Venereol 2019 Jan 31. Epub 2019 Jan 31.

Department of Dermatology and Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC), Hôpital Universitaire Necker-Enfants Malades, Assistance publique-Hôpitaux de Paris, Université Paris Descartes - Sorbonne Paris Cité, Paris, France.

Background: Autoimmune bullous dermatoses (AIBDs) in children are uncommon, and their long-term evolution remains unknown.

Objective: The aim of this retrospective study was to characterize the long-term prognosis of AIBDs that started during childhood.

Methods: We conducted a monocentric retrospective study, in the French dermatology centre, by including all children affected by AIBDs. Read More

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http://dx.doi.org/10.1111/jdv.15456DOI Listing
January 2019

Guidance for assessment of erythroderma in neonates and infants for the pediatric immunologist.

Authors:
Hagen Ott

Pediatr Allergy Immunol 2019 Jan 31. Epub 2019 Jan 31.

Division of Pediatric Dermatology, Children's Hospital AUF DER BULT, Hannover, Germany.

Neonatal and infantile erythroderma (NIE) represents the common clinical phenotype of heterogeneous diseases ranging from benign and transient skin conditions to fatal multiorgan disorders. NIE regularly demands a comprehensive diagnostic workup in a multiprofessional setting, especially if newborns and young infants with the disease develop a failure to thrive and concomitant infectious, neurologic, or metabolic complications. By obtaining a detailed medical history and performing a thorough clinical examination, targeted diagnostic steps can be scheduled for most affected children. Read More

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http://dx.doi.org/10.1111/pai.13032DOI Listing
January 2019
6 Reads

Validity of first-time diagnoses of congenital epidermolysis bullosa in the Danish National Patient Registry and the Danish Pathology Registry.

Clin Epidemiol 2019 17;11:115-124. Epub 2019 Jan 17.

Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark,

Purpose: Congenital epidermolysis bullosa (CEB) is a group of rare monogenic genodermatoses. Phenotypically, the diseases vary in both severity and dissemination, which complicates studies of their epidemiology. To investigate the potential of using the Danish National Patient Registry (DNPR) for epidemiological research on CEB, we examined the positive predictive value (PPV) of a first-time diagnosis of CEB. Read More

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http://dx.doi.org/10.2147/CLEP.S184742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340365PMC
January 2019

Ocular Mucous Membrane Pemphigoid: Current State of Pathophysiology, Diagnostics and Treatment.

Ophthalmol Ther 2019 Mar 29;8(1):5-17. Epub 2019 Jan 29.

Department of Ophthalmology, Basel University Hospital, Basel, Switzerland.

Mucous membrane pemphigoid (MMP) is a systemic cicatrizing autoimmune disease that primarily affects orificial mucous membranes, such as the conjunctiva, the nasal cavity, the oropharynx, and the genitalia. Ocular involvement occurs in about 70% of all MMP cases. Ocular MMP (OcMMP) also encompasses the conditions linear immunoglobulin A disease, mucosal dominated epidermolysis bullosa acquisita, and anti-laminin 332/anti-epiligrin/anti-laminin 5 pemphigoid. Read More

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http://dx.doi.org/10.1007/s40123-019-0164-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393250PMC
March 2019
3 Reads

Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses.

Br J Dermatol 2019 Jan 28. Epub 2019 Jan 28.

Department of Bioengineering, Universidad Carlos III de Madrid, Madrid, Spain.

Background: Recessive dystrophic epidermolysis bullosa (RDEB), Kindler syndrome (KS) and xeroderma pigmentosum complementation group C (XPC) are three cancer-prone genodermatoses whose causal genetic mutations cannot fully explain, on their own, the array of associated phenotypic manifestations. Recent evidence highlights the role of the stromal microenvironment in the pathology of these disorders.

Objectives: To investigate, by means of comparative gene expression analysis, the role played by dermal fibroblasts in the pathogenesis of RDEB, KS and XPC. Read More

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http://dx.doi.org/10.1111/bjd.17698DOI Listing
January 2019
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Steroid-induced Diabetes Complicating Treatment of Epidermolysis Bullosa Acquisita: A Preventable Treatment Complication Stresses the Importance of Primary Care Follow-up.

Cureus 2018 Nov 19;10(11):e3608. Epub 2018 Nov 19.

Internal Medicine, Louis Stokes Cleveland VA Medical Center/Case Western Reserve University School of Medicine, Cleveland, USA.

Epidermolysis bullosa acquisita is a rare autoimmune bullous disease involving the skin and mucosa, most commonly treated with systemic corticosteroids. This case illustrates the importance of counseling patients on medication side effects and ensuring close physician follow-up during an extended course of steroids. A 46-year-old man presented to the emergency department with weakness, fatigue, dizziness and polyuria in the setting of eight weeks of prednisone therapy for a flare-up of his bullous disease. Read More

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http://dx.doi.org/10.7759/cureus.3608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343862PMC
November 2018
2 Reads

Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT5.

J Dermatol 2019 Jan 28. Epub 2019 Jan 28.

Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan.

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http://dx.doi.org/10.1111/1346-8138.14788DOI Listing
January 2019
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Epidermolysis Bullosa Acquisita: The 2019 Update.

Front Med (Lausanne) 2018 10;5:362. Epub 2019 Jan 10.

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

Epidermolysis bullosa acquisita (EBA) is an orphan autoimmune disease. Patients with EBA suffer from chronic inflammation as well as blistering and scarring of the skin and mucous membranes. Current treatment options rely on non-specific immunosuppression, which in many cases, does not lead to a remission of treatment. Read More

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http://dx.doi.org/10.3389/fmed.2018.00362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335340PMC
January 2019
16 Reads

Thrombospondin-1 Is a Major Activator of TGF-β Signaling in Recessive Dystrophic Epidermolysis Bullosa Fibroblasts.

J Invest Dermatol 2019 Jan 23. Epub 2019 Jan 23.

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

Mutations in the gene encoding collagen VII cause the devastating blistering disease recessive dystrophic epidermolysis bullosa (RDEB). RDEB is characterized by severe skin fragility and nonhealing wounds aggravated by scarring and fibrosis. We previously showed that TSP1 is increased in RDEB fibroblasts. Read More

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http://dx.doi.org/10.1016/j.jid.2019.01.011DOI Listing
January 2019
4 Reads

A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa.

Acta Derm Venereol 2019 Apr;99(4):460-461

Department of Dermatology, University of Freiburg, Faculty of Medicine, DE-79104 Freiburg, Germany.

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http://dx.doi.org/10.2340/00015555-3133DOI Listing

Elevation of serum interleukin-21 in patients with epidermolysis bullosa acquisita.

J Dermatol 2019 Mar 23;46(3):279-280. Epub 2019 Jan 23.

Department of Dermatology, Gangnam Severance Hospital, Seoul, Korea.

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http://doi.wiley.com/10.1111/1346-8138.14789
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http://dx.doi.org/10.1111/1346-8138.14789DOI Listing
March 2019
9 Reads

Carmi Syndrome in a Preterm Neonate: A Multidisciplinary Approach and Ethical Challenge.

Case Rep Pediatr 2018 20;2018:4548194. Epub 2018 Dec 20.

Department of Neonatology, Children's Hospital of Orange County, Orange, CA, USA.

Epidermolysis bullosa (EB) is characterized by blistering of the skin and mucosal erosions caused by hemidesmosomal abnormalities. EB is divided into 3 major subgroups depending on the particular location of tissue separation: EB simplex, dystrophic EB, and junctional EB. Junctional EB (JEB) can further be broken down into Herlitz, non-Herlitz, and JEB with pyloric atresia (Carmi syndrome) depending on genetic and histologic testing. Read More

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http://dx.doi.org/10.1155/2018/4548194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317128PMC
December 2018
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A Case Report of the Use of Rituximab and the Epidermolysis Bullosa Disease Activity Scoring Index (EBDASI) in a Patient with Epidermolysis Bullosa Acquisita with Extensive Esophageal Involvement.

Acta Dermatovenerol Croat 2018 Dec;26(4):325-328

Professor Dedee F. Murrell, MA, BM, FAAD, MD, FACD FRCP (Edin), Department of Dermatology St. George Hospital University of NSW Gray St, Kogarah, Sydney, Australia;

A 49-year-old man with recalcitrant mechanobullous epidermolysis bullosa acquisita (EBA) with significant esophageal involvement was treated with rituximab. EBA is a chronic autoimmune subepidermal bullous disease. It is characterized by skin fragility and scarring caused by circulating and tissue bound antibodies to type VII collagen. Read More

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December 2018
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A retrospective cohort study evaluating the accuracy of clinical diagnosis compared with immunofluorescence and electron microscopy in children with inherited epidermolysis bullosa.

Br J Dermatol 2019 Jan 18. Epub 2019 Jan 18.

Department of Dermatology, Sydney Children's Hospital Randwick, Randwick, NSW, Australia.

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http://dx.doi.org/10.1111/bjd.17648DOI Listing
January 2019
2 Reads