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JAMA Dermatol 2019 Feb 20. Epub 2019 Feb 20.

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

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

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

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

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

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

Int J Biochem Cell Biol 2019 Feb 8. 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

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.

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

Department of Dermatology, Hospital NECKER ENFANTS-MALADES, Institut Imagine, centre de référence MAGEC, University Paris Descartes- Sorbonne Paris Cité, Paris, France.

Background: Autoimmune bullous dermatosis (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 center, by including all children affected by AIBDs. Read More

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

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

Neonatal and infantile erythroderma (NIE) represent the common clinical phenotype of heterogenous 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, neurological 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

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

Ophthalmol Ther 2019 Jan 29. 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

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 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

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

J Dermatol 2019 Jan 28. Epub 2019 Jan 28.

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

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

J Clin Anesth 2019 Jan 22;56:27. Epub 2019 Jan 22.

Department of Anesthesiology, Osaka Medical College, Japan.

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

Department of Dermatology & Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA. Electronic address:

Mutations in the gene encoding collagen VII (C7) cause the devastating blistering disease recessive dystrophic epidermolysis bullosa (RDEB). RDEB is characterized by severe skin fragility and non-healing wounds aggravated by scarring and fibrosis. We previously demonstrated that thrombospondin-1 (TSP1) is increased in RDEB fibroblasts. Read More

Acta Derm Venereol 2019 01 23. Epub 2019 Jan 23.

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

J Dermatol 2019 Jan 23. Epub 2019 Jan 23.

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

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

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

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

Sydney Children's Hospital Randwick, Dermatology, Randwick, New South Wales, Australia.

Traditionally, the diagnosis of epidermolysis bullosa (EB) was made using electron microscopy (EM), and immunofluorescence mapping (IFM). Increasingly, genomics plays a role in the diagnosis of EB, and other genetic conditions, with a result turn-around-time as little as 1-3 weeks. The rapid turn around time and accuracy of genetic testing mandates a rethink on the way that we currently assess infants and children with EB. Read More

Postepy Biochem 2018 12;64(4):351-358

Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa.

Genetically determined skin diseases, genodermatoses, are a group of rare disorders characterized by heterogeneous clinical course, prognosis and complex molecular pathology. In Epidermolysis Bullosa (EB) and Mendelian disorders of cornification (MeDOC) epidermal dysfunction occurs. Mutations in several dozen genes have been identified to be responsible for clinical symptoms of EB and MeDOC, which, in general, include: tendency to blister formation with skin fragility and abnormal keratinization, respectively. Read More

Clin Case Rep 2019 Jan 12;7(1):58-63. Epub 2018 Nov 12.

Department of Nutrition and Dietetics Guy's and St. Thomas' NHS Foundation Trust London UK.

This retrospective study looks at bone mineral density of people with recessive dystrophic epidermolysis bullosa as assessed by dual-energy x-ray absorptiometry. Data were collected in 34 patients aged 16-35 years. Statistical analysis showed immobility, low body mass index, and pubertal delay was associated with osteoporosis. Read More

J Wound Care 2019 Jan;28(1):5-14

Professor of Nursing Innovation and Technology, Florence Nightingale Faculty of Nursing, Midwifery and Palliative Care, King's College London.

Objective:: Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic skin disorder which requires intensive hand therapy to delay fusion of the digits. Existing dressings do not conform to the complex structure of the hand and are applied in patches held with additional bandages, leading to an occlusive environment. The aim was to co-design with patients a dressing glove based on their user experiences and needs. Read More

Int J Med Inform 2019 Feb 28;122:27-36. Epub 2018 Nov 28.

Bernoulli Institute for Mathematics, Computer Science, University of Groningen, The Netherlands.

Direct immunofluorescence (DIF) microscopy of a skin biopsy is used by physicians and pathologists to diagnose autoimmune bullous dermatoses (AIBD). This technique is the reference standard for diagnosis of AIBD, which is used worldwide in medical laboratories. For diagnosis of subepidermal AIBD (sAIBD), two different types of serrated pattern of immunodepositions can be recognized from DIF images, namely n- and u-serrated patterns. Read More

Dermatol Surg 2018 Dec 24. Epub 2018 Dec 24.

Department of Dermatology, Indiana University School of Medicine, Indianapolis, Indiana.

Br J Dermatol 2019 Jan;180(1):17-19

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

JAMA Dermatol 2018 Dec 26. Epub 2018 Dec 26.

Department of Pediatrics, University of Colorado School of Medicine, Aurora.

Importance: Children with epidermolysis bullosa (EB) comprise a rare population with high morbidity and mortality. An improved understanding of the clinical trajectory of patients with EB, including age at time of clinical diagnosis and major clinical events, is needed to refine best practices and improve quality of life and clinical outcomes for patients with EB.

Objectives: To describe demographics, clinical characteristics, milestone diagnostic and clinical events (such as initial esophageal dilation), and outcomes in patients with EB using the Epidermolysis Bullosa Clinical Characterization and Outcomes Database and to determine what characteristics may be associated with overall EB severity and/or disease progression. Read More

J Invest Dermatol 2019 Jan;139(1):22-24

University of Groningen, University Medical Center Groningen, Department of Dermatology, Center for Blistering Diseases, Groningen, The Netherlands. Electronic address:

KLHL24 mutations have recently been associated with epidermolysis bullosa simplex. Initial studies focused on skin fragility. However, the picture of KLHL24 mutations causing extracutaneous human disease is emerging, with dilated cardiomyopathy as a strong association. Read More

Nano Lett 2018 Dec 19. Epub 2018 Dec 19.

Delivery of functional genetic materials into fibroblast cells to manipulate the transgene expression is of great significance in skin gene therapy. Despite numerous polymeric gene delivery systems having been developed, highly safe and efficient fibroblast gene transfection has not yet been achieved. Here, through a new linear oligomer combination strategy, linear poly(β-amino ester) oligomers are connected by the branching units, forming a new type of poly(β-amino ester). Read More

Ultraschall Med 2018 Dec 14;39(6):600-601. Epub 2018 Dec 14.

Ultraschallpraxis Freie Strasse, Basel, Switzerland.

J Dermatol 2019 Feb 14;46(2):158-160. Epub 2018 Dec 14.

Department of Dermatology, No. 1 Hospital of China Medical University, Shenyang, China.

We report a 21-year-old man with recurrent bullous eruptions and severe itching on the lower legs and feet since 5 years of age. Dry, dirty brown, tile-like scales covered his lower legs with dystrophic toenails. Nodular prurigo-like lesions, scarring papules and milia remitted after the bullous eruptions. Read More

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 12 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

Pediatr Dermatol 2019 Jan 4;36(1):132-138. 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 12 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

JAAD Case Rep 2018 Nov 2;4(10):993-995. Epub 2018 Nov 2.

Department of Dermatology, Getulio Vargas University Hospital, Amazonas, Brazil.