6,074 results match your criteria Epidermolysis Bullosa
Medicine (Baltimore) 2018 Dec;97(49):e13225
Department of Obstetrics and Gynecology, Wuhan Medical & Health Center for Women and Children, Wuhan, Hubei.
Rationale: Epidermolysis bullosa (EB) refers to a group of rare inherited mechanobullous disorders that present with great clinical and genetic heterogeneity. Its severity ranges from mild blistering to life-threatening. However, the clinical symptoms of different types of EB overlap significantly, especially at an early stage. Read More
Nat Commun 2018 Dec 12;9(1):5075. Epub 2018 Dec 12.
Department of Medical and Molecular Genetics, School of Basic & Medical Biosciences, King's College London, London, SE1 9RT, UK.
Acne vulgaris is a highly heritable common, chronic inflammatory disease of the skin for which five genetic risk loci have so far been identified. Here, we perform a genome-wide association study of 3823 cases and 16,144 controls followed by meta-analysis with summary statistics from a previous study, with a total sample size of 26,722. We identify 20 independent association signals at 15 risk loci, 12 of which have not been previously implicated in the disease. Read More
Fetal Pediatr Pathol 2018 Dec 7:1-8. Epub 2018 Dec 7.
c Department of Dermatology , Pusan National University Yangsan Hospital , Yangsan , Republic of Korea.
Introduction: Bart's syndrome, a hereditary mechanobullous disorder characterized by aplasia cutis congenita (ACC) with epidermolysis bullosa (EB), has not been genotyped frequently.
Case Report: A full-term female neonate had well-demarcated absence of skin on both legs at birth, with blisters and erosive patches developing immediately after birth. Electron microscopy showed blister formation under the lamina densa layer. Read More
Int J Gen Med 2018 15;11:413-421. Epub 2018 Nov 15.
Department of Skin and Venereal Diseases, I.M. Sechenov First Moscow State Medical University, Moscow, Russia,
Purpose: The aim of this study was to evaluate the progression of a case of a patient with epidermolysis bullosa (EB) since early age who survived to adulthood, presenting with recurrent skin blisters and disfiguring scars and disabling musculoskeletal deformities.
Background: EB is a rare group of inherited diseases that affect the skin fragility causing it to blister in response to even minor trauma. Established novel treatments are limited in the literature due to its rarity, and more research is needed to set a global management approach. Read More
Matrix Biol 2018 Dec 5. Epub 2018 Dec 5.
Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy. Electronic address:
Loss-of-function mutations in the gene encoding type VII collagen underlie recessive dystrophic epidermolysis bullosa (RDEB), a disease characterized by skin and mucosal blistering, impaired wound healing, and diffuse dermal inflammation and fibrosis. Transforming growth factor-β signaling plays a crucial role in determining RDEB fibrotic microenvironment that leads to the development of disabling secondary disease manifestations, including hand and foot deformities. Experimental findings indicate that expression levels of decorin, a small leucine-rich proteoglycan and an endogenous TGF-β inhibitor, can modulate RDEB disease phenotype by contrasting dermal fibroblast fibrotic behavior. Read More
Indian Dermatol Online J 2018 Nov-Dec;9(6):445-447
Department of Pathology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.
Many drugs are known to cause systemic lupus erythematosus (SLE), however there are no well defined criteria for drug induced lupus erythematosus (DILE). We present a rare case of lamotrigine induced lupus presenting as acute syndrome of apoptotic pan epidermolysis (ASAP). Read More
Pediatr Dermatol 2018 Dec 4. Epub 2018 Dec 4.
Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Background/objectives: Epidermolysis bullosa is a group of diseases caused by mutations in skin structural proteins. Availability of genetic sequencing makes identification of causative mutations easier, and genotype-phenotype description and correlation are important. We describe six patients with a keratin 5 mutation resulting in a glutamic acid to lysine substitution at position 477 (p. Read More
Acta Derm Venereol 2018 Nov 28. Epub 2018 Nov 28.
Center for Blistering Diseases, Departments of Dermatology, University of Groningen, University Medical Center Groningen, 9700RB Groningen, The Netherlands.
J Eur Acad Dermatol Venereol 2018 Nov 25. Epub 2018 Nov 25.
"Iuliu Hatieganu" University of Medicine and Pharmacy Cluj-Napoca.
There is an increased interest of medical staff to have a more objective evidence of the severity of clinical picture of the patient with epidermolysis bullosa (EB), but also about the patient's quality of life. The goal of these studies is to develop a personalized treatment, based on the patients' needs. The aims of our study were to develop a validated and reliable quality of life questionnaire (QOLEB) in Romania, to assess the health-related quality of life (HRQoL) in Romanian EB patients, and to perform an objective evaluation of the clinical features of patients with EB. Read More
J Investig Dermatol Symp Proc 2018 Dec;19(2):S74-S76
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
The 2016 JID Beijing Workshop, held in the context of the 5 National Congress of Investigative Dermatology of the Chinese Society of Dermatology, had the thematic focus on "Precision Medicine in Dermatology." This theme was extremely timely, yet forward-looking, due to the fact that precision medicine is one of the fastest growing paradigms of contemporary medicine (Box 1). Read More
Matrix Biol 2018 Dec 3;74:62-76. Epub 2018 Jul 3.
Department of Dermatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany. Electronic address:
Integrin α3β1, a major epidermal adhesion receptor is critical for organization of the basement membrane during development and wound healing. Integrin α3 deficiency leads to interstitial lung disease, nephrotic syndrome and epidermolysis bullosa (ILNEB), an autosomal recessive multiorgan disease characterized by basement membrane abnormalities in skin, lung and kidney. The pathogenetic chains from ITGA3 mutation to tissue abnormalities are still unclear. Read More
J Immunol 2018 Dec 21;201(12):3793-3803. Epub 2018 Nov 21.
Department of Physiology, Semmelweis University School of Medicine, 1094 Budapest, Hungary;
Mouse strains with specific deficiency of given hematopoietic lineages provide invaluable tools for understanding blood cell function in health and disease. Whereas neutrophils are dominant leukocytes in humans and mice, there are no widely useful genetic models of neutrophil deficiency in mice. In this study, we show that myeloid-specific deletion of the Mcl-1 antiapoptotic protein in () mice leads to dramatic reduction of circulating and tissue neutrophil counts without affecting circulating lymphocyte, monocyte, or eosinophil numbers. Read More
Matrix Biol 2018 Nov 18. Epub 2018 Nov 18.
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:
Epidermolysis bullosa (EB), the paradigm of heritable skin fragility disorders, is associated with mutations in as many as 20 distinct genes. One of the clinical variants, recessive dystrophic EB (RDEB), demonstrates sub-lamina densa blistering accompanied by alterations in anchoring fibrils due to mutations in COL7A1. In this study, we characterized a patient with widespread connective tissue abnormalities including skin blistering similar to that in RDEB. Read More
Australas J Dermatol 2018 Nov 18. Epub 2018 Nov 18.
Division of Radiation Oncology and Cancer Imaging, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
Front Med (Lausanne) 2018 2;5:296. Epub 2018 Nov 2.
Department of Dermatology, University of Lübeck, Lübeck, Germany.
Autoimmune skin blistering diseases (AIBD) are characterized by autoantibodies that are directed against structural proteins in the skin and adjacent mucous membranes. Some clinical signs are typical for a specific AIBD, however, correct diagnosis requires the detection of tissue-bound or circulating autoantibodies. The gold standard for diagnosis of AIBD is the detection of autoantibodies or complement component 3 by direct immunofluorescence (DIF) microscopy of a perilesional biopsy. Read More
J Eur Acad Dermatol Venereol 2018 Nov 13. Epub 2018 Nov 13.
Department of Paediatric Dermatology, Colentina Clinical Hospital, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania.
Background: Epidermolysis bullosa (EB) may have severe impact on different aspects of patients' life. Until now there was no EB-specific quality of life (QoL) instrument for young children.
Objective: To create EB-specific proxy module of the Infants and Toddlers Dermatology Quality of Life (InToDermQoL) questionnaire. Read More
JAMA Facial Plast Surg 2018 Oct 25. Epub 2018 Oct 25.
Department of Otolaryngology-Head and Neck Surgery, University of Virginia Health System, Charlottesville.
Importance: Reconstructing Mohs defects often requires grafting in the form of full-thickness skin grafts (FTSGs) and composite grafts. These grafts can be complicated by a variable and often indeterminable survival rate. Other researchers have found that delaying FTSG reconstruction improves graft outcomes, but the optimal interval between excision and reconstruction remains unclear, and no study has examined the association between delaying composite graft reconstruction and graft survival. Read More
JAAD Case Rep 2018 Nov 2;4(10):993-995. Epub 2018 Nov 2.
Department of Dermatology, Getulio Vargas University Hospital, Amazonas, Brazil.
Skinmed 2018 9;16(5):361-362. Epub 2018 Nov 9.
Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL.
Skin Appendage Disord 2018 Oct 22;4(4):339-341. Epub 2017 Dec 22.
Department of Dermatology, Hospital das Clínicas da Universidade de São Paulo, Teresina, Brazil.
Skin Appendage Disord 2018 Oct 20;4(4):308-311. Epub 2018 Apr 20.
Universidade Federal Fluminense, Niterói, Brazil.
Brunsting-Perry type pemphigoid (BPP) is a rare subepidermal blistering disease and a cause of secondary cicatricial alopecia. It was originally described by Brunsting and Perry in 1957 as a rare variant of cicatricial pemphigoid, characterized by bullous lesions limited to the head, neck, scalp, and upper trunk with mild or no mucosal involvement. We report 2 cases of BPP cicatricial alopecia with histopathology of subepidermal blister formation, different clinical presentation, and different salt-split test results. Read More
Orphanet J Rare Dis 2018 Nov 8;13(1):197. Epub 2018 Nov 8.
Department of Paediatric Dermatology, Children's Hospital AUF DER BULT, Janusz-Korczak-Allee 12, 30173, Hannover, Germany.
Background: Rare diseases affect approximately 30 million people in the European Union and present a major health issue. Over 1000 rare skin diseases are known, many of which are of genetic origin and manifest in childhood. One of these diseases is epidermolysis bullosa (EB), a genodermatosis presenting with skin fragility and blistering. Read More
J Wound Care 2018 Nov;27(11):768-771
Associate Professor, Haydarpasa Numune Training and Research Hospital, Department of Pediatric Clinic, Istanbul, Turkey.
Bart syndrome consists of aplasia cutis congenita (ACC) and dominant or recessive dystrophic epidermolysis bullosa (DEB), associated with skin fragility and nail dysplasia. ACC in DEB is thought to be caused by trauma, the most cited cause being in utero formation of bullae consequent to friction of the limbs. Epidermolysis bullosa (EB) refers to a hereditary mechanobullous disease following trauma, characterised by formation of blisters on the skin and mucous membranes. Read More
J Dtsch Dermatol Ges 2018 Nov;16(11):1339-1358
Department of Dermatology and Allergology, Marburg University Medical Center, Marburg, Germany.
Pathophysiologically, bullous autoimmune dermatoses are caused by autoantibodies directed against adhesion molecules or structural proteins of the skin and mucous membranes, clinically resulting in blister formation. Depending on the respective target proteins of the autoimmune response and their location in the skin, a distinction is made between intraepidermal (pemphigus disorders), junctional (pemphigoid disorders), and subepidermal (epidermolysis bullosa acquisita, dermatitis herpetiformis) autoimmune blistering diseases. The most common bullous autoimmune dermatosis, bullous pemphigoid is characterized by marked clinical variability and intense pruritus. Read More
J Invest Dermatol 2018 Oct 27. Epub 2018 Oct 27.
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address:
The heritable forms of epidermolysis bullosa (EB), a phenotypically heterogeneous group of skin fragility disorders, is currently associated with mutations in as many as 21 distinct genes. EB is primarily a disorder affecting the epithelial layers of skin and mucous membranes, without extracutaneous manifestations, and thus being non-syndromic. However, recent demonstrations of skin blistering in the spectrum of EB in multisystem disorders with single gene defects highlight the concept of syndromic EB. Read More
Orphanet J Rare Dis 2018 Nov 1;13(1):193. Epub 2018 Nov 1.
EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology, University Hospital of the Paracelsus Medical University Salzburg, Muellner Hauptstrasse 48, 5020, Salzburg, Austria.
Generalized severe epidermolysis bullosa simplex (EBS-gen sev) is caused by mutations within either the KRT5 or KRT14 gene, phenotypically resulting in blistering and wounding of the skin and mucous membranes after minor mechanical friction. In a clinical phase 2/3 trial, diacerein has recently been shown to significantly reduce blister numbers upon topical application. In this study we addressed basic pharmacokinetic parameters of locally applied diacerein in vitro and in vivo. Read More
J Cutan Med Surg 2018 Oct 31:1203475418808761. Epub 2018 Oct 31.
1 Division of Dermatology, Department of Medicine, University of Ottawa and The Ottawa Hospital, Ottawa, ON, Canada.
There is a growing interest in the use of medical cannabis for a variety of dermatologic conditions. Despite the lack of evidence to validate the effectiveness and safety of marijuana, it is approved to treat a variety of dermatologic conditions in the United States. Furthermore, medical cannabis dispensaries have been making unsubstantiated claims about medical cannabis. Read More
J Eur Acad Dermatol Venereol 2018 Oct 25. Epub 2018 Oct 25.
Department of Dermatology, University of Lübeck, Lübeck, Germany.
J Eur Acad Dermatol Venereol 2018 Oct 25. Epub 2018 Oct 25.
Dermatology Unit, University of Modena and Reggio Emilia, Modena, Italy.
Br J Dermatol 2018 Oct 22. Epub 2018 Oct 22.
Department of Dermatology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Epidermolysis bullosa (EB) is a genetic blistering disorder characterized by intense pain related to disease pathology and care-based interventions. Opioid-based therapies underpin pain care in EB; however, they are unable to provide adequate analgesia in a significant proportion of patients. Cannabinoid-based medicines (CBMs) have been studied increasingly for pain conditions of various aetiologies and pose as a novel dimension for pain care in EB. Read More
Pediatr Dermatol 2018 Oct 18. Epub 2018 Oct 18.
Department of Dermatology, Vanderbilt University Medical Center, Nashville, Tennessee.
We report the case of an infant born with perioral vesicles that rapidly spread to involve his mouth and the majority of his body. Histopathology, immunofluorescence, and enzyme-linked immunohistochemistry assays confirmed a diagnosis of epidermolysis bullosa acquisita (EBA). His mother had no history of EBA, and serum indirect immunofluorescence was negative. Read More
Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi 2018 Aug;36(8):628-629
Matrix Biol 2018 Oct 12. Epub 2018 Oct 12.
Department of Dermatology, Faculty of Medicine and Medical Center, University of Freiburg, Germany; Institute for Prevention and Cancer Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Germany. Electronic address:
The behavior of a cell depends on how its adhesion molecules interact with the cellular microenvironment. Hemidesmosomal collagen XVII essentially contributes to cell adhesion and modulates keratinocyte directionality and proliferation during skin regeneration, however only little is known about the involved interactions. Here, we used keratinocytes from patients with junctional epidermolysis bullosa with late onset, which exclusively produce a collagen XVII mutant with the p. Read More
J Geriatr Oncol 2018 Oct 9. Epub 2018 Oct 9.
Radiation Oncology Section, Department of Surgical and Biomedical Science, University of Perugia and Perugia General Hospital, Perugia, Italy.
Objective: Non-melanoma skin cancer (NMSC) has been rapidly increasing in incidence over the past 30 years. Mainstays of treatment remain surgery and radiotherapy, particularly in older and/or frail patients (≥75 years old) that often require a personalized treatment strategy using innovative biotechnologies. High-dose-rate interventional radiotherapy (HDR-IRT) seems to be an excellent option for NMSC. Read More
Br J Dermatol 2018 Oct 11. Epub 2018 Oct 11.
Department of Dermatology, Kurume University School of Medicine, Fukuoka, Japan.
Background: Epidermolysis bullosa acquisita (EBA) is a rare pemphigoid disease involving autoantibodies to type VII collagen (COL7), a major structural component of anchoring fibrils. IgE autoantibodies to type XVII collagen (BP180) have been identified in bullous pemphigoid (BP), the prototype of pemphigoid diseases. Although the pathogenic relevance of IgG anti-COL7 has been investigated, that of IgE in EBA remains unclear. Read More
JAAD Case Rep 2018 Oct 3;4(9):877-879. Epub 2018 Oct 3.
University of Texas Southwestern Medical Center, Dallas, Texas.
Clin Exp Dermatol 2018 Oct 4. Epub 2018 Oct 4.
Department of Dermatology, Japan Red Cross Maebashi Hospital, Maebashi, Japan.
Dermatol Ther 2018 Nov 3;31(6):e12726. Epub 2018 Oct 3.
Department of Medicine, Health Sciences Campus at Lake Nona, Orlando, FL.
Epidermolysis bullosa acquisita (EBA) is a rare, subepidermal blistering disease affecting the skin and mucous membranes that often remains refractory to standard immunosuppressive therapy. We present three original cases and a review of the literature of 20 cases of refractory EBA treated with rituximab as monotherapy or in combination with other agents. Complete control (with or without therapy) and remission were seen in 56% of patients treated with rituximab monotherapy and 75% of patients treated with rituximab and immunoadsorption (IA). Read More
J Dermatolog Treat 2018 Oct 3:1-14. Epub 2018 Oct 3.
b The Chinese University of Hong Kong - Baylor College of Medicine Joint Center for Medical Genetics , Hong Kong.
Epidermolysis Bullosa (EB) is a heterogeneous group of congenital blistering diseases that usually presents in the neonatal period. EB is classified into three major categories, each with many subtypes based on the precise location at which separation or blistering occurs, namely epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB) and dystrophic epidermolysis bullosa (DEB). We describe genetics of neonatal EB in Hong Kong. Read More
Ugeskr Laeger 2018 Oct;180(40)
Epidermiolysis bullosa (EB) is a rare group of genetic disorders, which are characterised by bullae and erosions on skin and mucosa. This case report describes a patient, who was born at full term without any complications. Both crurae were affected by aplasia cutis. Read More
Stem Cells 2018 Dec 24;36(12):1839-1850. Epub 2018 Sep 24.
Department of Pediatrics, New York Medical College, Valhalla, New York.
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin fragility disorder caused by mutations in the Col7a1 gene. Patients with RDEB suffer from recurrent erosions in skin and mucous membranes and have a high risk for developing cutaneous squamous cell carcinoma (cSCCs). TGFβ signaling has been associated with fibrosis and malignancy in RDEB. Read More
Exp Dermatol 2018 Sep 21. Epub 2018 Sep 21.
Department of Dermatology, Venereology and Allergology, Medical University of Gdańsk, Poland.
Epidermolysis bullosa is a group of inherited blistering skin diseases resulting in most cases from missense mutations in KRT5 and KRT14 genes encoding the basal epidermal keratins 5 and 14. Here, we present a patient diagnosed with a localized subtype of epidermolysis bullosa simplex caused by a heterozygous mutation p.Ala428Asp in the KRT5 gene, that has not been previously identified. Read More
Australas J Dermatol 2018 Sep 19. Epub 2018 Sep 19.
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Acta Derm Venereol 2018 Sep 18. Epub 2018 Sep 18.
Pediatr Dermatol 2018 09;35(5):732-735
Indian J Dermatol 2018 Sep-Oct;63(5):445-448
Department of Dermatology, Rambam Health Care Campus, Haifa, Israel. E-mail:
J Biomed Mater Res A 2018 Dec 12;106(12):3231-3238. Epub 2018 Sep 12.
Department of Biomedical Engineering, University of Minnesota-Twin Cities, Minneapolis, Minnesota.
Recessive dystrophic Epidermolysis Bullosa (RDEB) is caused by mutations in collagen-type VII gene critical for the dermoepidermal junction (DEJ) formation. Neither tissues of animal models nor currently available in vitro models are amenable to the quantitative assessment of mechanical adhesion between dermal and epidermal layers. Here, we created a 3D in vitro DEJ model using extracellular matrix (ECM) proteins of the DEJ anchored to a poly(ethylene glycol)-based slab (termed ECM composites) and seeded with human keratinocytes and dermal fibroblasts. Read More
Dermatol Surg 2018 Sep 10. Epub 2018 Sep 10.
Department of Dermatology, St. George Hospital, Sydney, Australia.
Background: There is limited evidence to suggest patients with epidermolysis bullosa (EB) have more postoperative wound complications than the general population. Despite this, the authors have noted reluctance among some surgeons to operate on these patients.
Objective: A cross-sectional study was designed to investigate postoperative wound and scar healing outcomes in patients with EB. Read More
J Wound Care 2018 09;27(9):558-562
Dermatology Unit, Surgical, Medical and Dental Department of Morphological Sciences Related to Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.
The reconstruction of complex wounds in patients with comorbidities in the lower extremities is a challenging problem for surgeons. Skin grafting is frequently used to cover large skin defects, but it has several limits, including unwanted outcomes resulting from scars, poor elasticity and limitations in joint movement due to contractures. Locoregional flaps, particularly in the lower limbs, have limited application due to the size of the defect. Read More