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    5488 results match your criteria Epidermolysis Bullosa

    1 OF 110

    Evaluation of the effect and mechanism of action of local phenytoin in treatment of vitiligo.
    J Immunoassay Immunochem 2017 Jun 22. Epub 2017 Jun 22.
    b Dermatology Department, Faculty of Medicine , Menoufia University, MSA October University , Egypt.
    There are many theories explaining vitiligo such as genetic, autoimmune, neural, free radicals, biochemical, intrinsic defect, melanocytorrhagy and convergent theories. Phenytoin is a widely used anticonvulsant, which is used in cutaneous medicine for treatment of ulcers and epidermolysis bullosa. The aim of this study is to assess the effectiveness of topical phenytoin gel in treatment of vitiligo patients and explaining the underlying mechanism using immunohistochemistry for evaluation of HMB45, CD4 and CD8. Read More

    A rare occurrence of epidermolysis bullosa acquisita in a patient with retroviral disease.
    Int J STD AIDS 2017 Jan 1:956462417696433. Epub 2017 Jan 1.
    Department of Dermatology, Topiwala National Medical College & B.Y.L. Nair Ch. Hospital, Mumbai, India.
    Epidermolysis bullosa acquisita is a chronic subepidermal blistering disease associated with autoimmunity to type-VII collagen within anchoring fibrils located at the dermo-epidermal junction. This entity is rarely reported from India. It can have a variety of presentations. Read More

    BPAG1, a Distinctive Role in Skin and Neurological Diseases.
    Semin Cell Dev Biol 2017 Jun 13. Epub 2017 Jun 13.
    Laboratory for Bone Metabolism, Key Laboratory for Space Bioscience and Biotechnology, School of Life Sciences, Northwestern Polytechnical University, Xi'an, Shaanxi 710072, PR China; Shenzhen Research Institution of Northwestern Polytechnical University, Shenzhen, 518057, PR China; Northwestern Polytechnical University-Hong Kong Baptist University Joint Research Centre for Translational Medicine on Musculoskeletal Health in Space, Xi'an, 710072, PR China. Electronic address:
    Spectraplakins are multifunctional cytoskeletal linker proteins that act as important communicators, connecting cytoskeletal components with each other and to cellular junctions. Bullous pemphigoid antigen 1 (BPAG1)/dystonin is a member of spectraplakin family and expressed in various tissues. Alternative splicing of BPAG1 gene produces various isoforms with unique structure and domains. Read More

    End-stage kidney disease in patient with epidermolysis bullosa - what are the treatment options? - case report.
    BMC Nephrol 2017 Jun 14;18(1):193. Epub 2017 Jun 14.
    Department of Nephrology, Transplantation and Internal Medicine, Pomeranian Medical University, Al. Powstańców Wielkopolskich 72, 70-111, Szczecin, Poland.
    Background: Epidermolysis bullosa is a group of diseases caused by mutations in genes for proteins responsible for cells' anchorage at the dermo-epidermal junction. Their common feature are dysfunctional or even absent connections between cells. The typical clinical sign is the formation of blisters, with possible excessive scarring, in response to minimal skin irritation. Read More

    Betulin-Based Oleogel to Improve Wound Healing in Dystrophic Epidermolysis Bullosa: A Prospective Controlled Proof-of-Concept Study.
    Dermatol Res Pract 2017 22;2017:5068969. Epub 2017 May 22.
    Epidermolysis Bullosa Centre, Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany.
    Introduction: Skin fragility and recurrent wounds are hallmarks of hereditary epidermolysis bullosa (EB). Treatment options to accelerate wound healing are urgently needed. Oleogel-S10 contains a betulin-rich triterpene extract from birch bark. Read More

    Junctional Epidermolysis Bullosa (Non-Herlitz Type).
    J Coll Physicians Surg Pak 2017 May;27(5):308-310
    Department of Bioinformatics and Biotechnology, International Islamic University, Islamabad. Pakistan.
    Junctional epidermolysis bullosa (JEB) is a recessively inherited skin blistering disease and is caused due to abnormalities in proteins that hold layers of the skin. Herlitz JEB is the severe form and non-Herlitz JEB is the milder form. This report describes a case of congenitally affected male child aged 5 years, with skin blistering. Read More

    Next generation human skin constructs as advanced tools for drug development.
    Exp Biol Med (Maywood) 2017 Jan 1:1535370217712690. Epub 2017 Jan 1.
    1 Department of Dermatology, Columbia University Medical Center, New York, NY 10032, USA.
    Many diseases, as well as side effects of drugs, manifest themselves through skin symptoms. Skin is a complex tissue that hosts various specialized cell types and performs many roles including physical barrier, immune and sensory functions. Therefore, modeling skin in vitro presents technical challenges for tissue engineering. Read More

    Manufacturing of Human Extracellular Vesicle-Based Therapeutics for Clinical Use.
    Int J Mol Sci 2017 Jun 3;18(6). Epub 2017 Jun 3.
    GMP Unit, Spinal Cord Injury and Tissue Regeneration Center Salzburg (SCI-TReCS), Paracelsus Medical University (PMU), 5020 Salzburg, Austria.
    Extracellular vesicles (EVs) derived from stem and progenitor cells may have therapeutic effects comparable to their parental cells and are considered promising agents for the treatment of a variety of diseases. To this end, strategies must be designed to successfully translate EV research and to develop safe and efficacious therapies, whilst taking into account the applicable regulations. Here, we discuss the requirements for manufacturing, safety, and efficacy testing of EVs along their path from the laboratory to the patient. Read More

    The Syk tyrosine kinase is required for skin inflammation in an in vivo mouse model of epidermolysis bullosa acquisita.
    J Invest Dermatol 2017 May 30. Epub 2017 May 30.
    Department of Physiology, Semmelweis University School of Medicine, 1094 Budapest, Hungary; MTA-SE "Lendület" Inflammation Physiology Research Group of the Hungarian Academy of Sciences and Semmelweis University, 1094 Budapest, Hungary. Electronic address:
    The inflammatory form of epidermolysis bullosa acquisita is caused by autoantibodies against type VII collagen (C7), a component of the dermal-epidermal junction. We have previously shown that myeloid Src-family kinases mediate skin inflammation triggered by anti-C7 antibodies. Here we identify the Syk tyrosine kinase as a critical component of autoantibody-induced skin inflammation downstream of Src-family kinases. Read More

    A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia.
    Acta Derm Venereol 2017 May 31. Epub 2017 May 31.
    Department of Dermatology, St George Hospital, Sydney, Australia.
    Epidermolysis bullosa simplex (EBS) is a rare heritable skin fragility disorder, most commonly caused by dominant mutations in KRT5 and KRT14. EBS shows clinical heterogeneity with localised, intermediate and generalised severe forms, which tend to correlate with the location and nature of the disease causing mutations. We therefore aimed to identify the KRT5 and KRT14 mutations in patients diagnosed with EBS in Australia, and explore in depth the genotype to the phenotype correlations in patients with novel variants. Read More

    Lack of K140 immunoreactivity in junctional epidermolysis bullosa skin and keratinocytes associates with misfolded laminin EGF-like (LE) motif 2 of the β3 short arm.
    Br J Dermatol 2017 May 31. Epub 2017 May 31.
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata-IRCCS, via dei Monti di Creta, 104, 00167, Rome, Italy.
    Recessive mutations in the LAMA3A, LAMB3 and LAMC2 genes coding for laminin-332 (α3aβ3γ2) chains cause different junctional epidermolysis bullosa (JEB) subtypes. Biallelic truncating mutations in any of the three genes usually lead to lack of protein expression resulting in the severe generalized JEB subtype, while missense or splicing mutations in at least one allele lead to reduced expression typical of generalized intermediate or localized JEB. Here, we molecularly characterized an adult JEB patient showing negative skin staining for the anti-β3 chain mAb K140. Read More

    Epidermolysis bullosa simplex caused by distal truncation of BPAG1-e: an intermediate generalized phenotype with prurigo papules.
    J Invest Dermatol 2017 May 27. Epub 2017 May 27.
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

    Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4.
    Fetal Pediatr Pathol 2017 May 30:1-8. Epub 2017 May 30.
    b Division of Neonatology, Department of Pediatrics , Hacettepe University Faculty of Medicine , Ankara , Turkey.
    Background: Epidermolysis bullosa with pyloric atresia (EB-PA) is an autosomal recessive disorder due to mutations in ITGA6 and/or ITGB4, resulting in altered expression of α6β4 integrin. EB-PA can also occur with aplasia cutis.

    Case Report: We present a newborn with EB-PA and aplasia cutis, born of consanguineous parents, with a homozygous c. Read More

    Amlexanox enhances premature termination codon read-through in COL7A1 and expression of full length type VII collagen: potential therapy for recessive dystrophic epidermolysis bullosa.
    J Invest Dermatol 2017 May 23. Epub 2017 May 23.
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:
    Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder caused by lack of functional type VII collagen, leading to skin fragility and subsequent trauma-induced separation of the epidermis from the underlying dermis. 46% of RDEB patients harbor at least one premature termination codon (PTC) mutation in COL7A1 and previous studies have shown that aminoglycosides are able to overcome RDEB PTC mutations by inducing "read-through" and incorporation of an amino acid at the PTC site. However, aminoglycoside toxicity will likely prevent widespread clinical application. Read More

    The "Kelch" Surprise: KLHL24, a New Player in the Pathogenesis of Skin Fragility.
    J Invest Dermatol 2017 Jun;137(6):1211-1212
    Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany. Electronic address:
    A new protein, kelch-like 24, has recently been associated with a distinct subtype of epidermolysis bullosa simplex, a heterogeneous group of disorders associated with mechanical fragility of epidermal keratinocytes. All mutations involve the translation initiation codon and lead to a degradation-resistant N-terminally truncated kelch-like 24. Kelch-like 24 appears to be involved in the turnover of intermediated filaments, in particular of keratin 14, in keratinocytes. Read More

    Genetic diseases associated with an increased risk of skin cancer development in childhood.
    Curr Opin Pediatr 2017 May 18. Epub 2017 May 18.
    aStanford University School of Medicine bDepartment of Dermatology cDepartment of Dermatology and Pediatrics dDivision of Pediatric Dermatology, Stanford University School of Medicine, USA.
    Purpose Of Review: Childhood skin cancers are relatively rare and may indicate an underlying genetic disorder. The increasing elucidation of genetic pathways is changing the diagnosis and management of genetic skin cancer susceptibility syndromes. In this review, we provide an overview of genetic conditions that predispose to skin cancer development in childhood and signs that providers should assess when evaluating affected individuals. Read More

    Intraepidermal Type VII Collagen by Immunofluorescence Mapping: A Specific Finding for Bullous Dermolysis of the Newborn.
    Pediatr Dermatol 2017 May;34(3):308-314
    Department of Dermatology, School of Medicine, Stanford University, Stanford, California.
    Background: Bullous dermolysis of the newborn (BDN) is a subtype of dystrophic epidermolysis bullosa (DEB) characterized by skin fragility and blister formation at birth that typically resolves within the first year of life. Abnormal intraepidermal retention of type VII collagen (C7) has been reported as a characteristic feature of BDN, but few studies have investigated the specificity of this finding.

    Methods: We retrospectively reviewed pathology reports of patients diagnosed with DEB using immunofluorescence mapping from January 2001 to January 2015. Read More

    Nitrous oxide for procedural analgesia at home in a child with epidermolysis bullosa.
    Paediatr Anaesth 2017 Jul 11;27(7):776-778. Epub 2017 May 11.
    Department of Anesthesia, Clinica Las Condes, Santiago, Chile.
    Epidermolysis bullosa comprises a range of conditions characterized by fragile skin with painful blistering induced by minor trauma and friction. The Dowling-Meara variant is a severe form characterized by disseminated painful blistering requiring lifelong skin and wound care. The natural history of the disease is characterized by a chronic course that tends to improve with advancing age. Read More

    Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs.
    PLoS One 2017 11;12(5):e0177527. Epub 2017 May 11.
    Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.
    A rare hereditary mechanobullous disorder called epidermolysis bullosa (EB) causes blistering in the skin and the mucosal membranes. To date, nineteen EB-related genes have been discovered in human and other species. We describe here a novel EB variant in dogs. Read More

    Eruptive melanocytic nevi during azathioprine therapy for antisynthetase syndrome.
    Cutis 2017 Apr;99(4):268-270
    Department of Dermatology, University of Maryland Medical Center, Baltimore, USA.
    Eruptive melanocytic nevi (EMN) are rare multiple benign melanocytic nevi that develop within a few months. The phenomenon has been associated with a variety of dermatologic and systemic conditions, including Stevens-Johnson syndrome, toxic epidermal necrolysis, epidermolysis bullosa, Addison disease, human immunodeficiency virus infection, and internal malignancy, among others. It also is commonly attributed to medications, particularly immunosuppressive and chemotherapeutic agents. Read More

    Retrospective evidence on outcomes and experiences of pregnancy and childbirth in epidermolysis bullosa in Australia and New Zealand.
    Int J Womens Dermatol 2017 Mar 16;3(1 Suppl):S1-S5. Epub 2017 Feb 16.
    Department of Dermatology, St. George Hospital, Sydney, Australia.
    Background: Pregnancy in epidermolysis bullosa (EB) has not been comprehensively studied.

    Objective: We aimed to develop a foundational database, which could provide peri-obstetric advice in EB.

    Methods: Survey questionnaires were sent to obstetricians, unaffected mothers of EB babies, and mothers with EB. Read More

    Colchicine may assist in reducing granulation tissue in junctional epidermolysis bullosa.
    Int J Womens Dermatol 2016 Jun 19;2(2):56-59. Epub 2016 May 19.
    Department of Dermatology, St George Hospital, Sydney, NSW, Australia.
    Epidermolysis bullosa (EB) is a rare, inherited blistering genodermatosis. Patients with junctional EB (JEB) due to LAMB3 mutations have widespread blisters and erosions of skin, mucosae, and nails, creating significant physical, emotional, and psychosocial burdens. Here we report the use of colchicine for ameliorating hypergranulating wounds in a 41-year-old female with JEB generalized intermediate. Read More

    Pathomechanisms of Altered Wound Healing in Recessive Dystrophic Epidermolysis Bullosa.
    Am J Pathol 2017 Jul 29;187(7):1445-1453. Epub 2017 Apr 29.
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata-IRCCS, Rome, Italy. Electronic address:
    Individuals with recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic skin disease, carry mutations in the COL7A1 gene that codes for type VII collagen, an extracellular matrix component of the basement membrane zone forming the anchoring fibrils. As a consequence, RDEB individuals manifest unremitting skin blistering that evolves into chronic wounds, inflammation, and fibrosis. These features play a central role in the development of more severe disease complications, such as mitten deformities of hands and feet and aggressive epithelial cancers. Read More

    Anesthetic Management of a Patient With Epidermolysis Bullosa Requiring Major Orthopedic Surgery: A Case Report.
    A A Case Rep 2017 Apr 28. Epub 2017 Apr 28.
    From the Department of Anesthesiology, Children's Hospital Colorado, University of Colorado, Aurora, Colorado.
    Epidermolysis bullosa (EB) encompasses a wide spectrum of rare genetic disorders in which an abnormality in collagen leads to loss or absence of normal intracellular bridges. Friction or shear forces on the skin and mucosa result in blister, bullae, and scar formation. We present our experience in the management of a patient with EB who required multiple procedures for squamous cell carcinoma of the left arm, including forequarter amputation. Read More

    Epidermolysis Bullosa Acquisita (Brunsting-Perry Pemphigoid Variant) Localized to the Face and Diagnosed With Antigen Identification Using Skin Deficient in Type VII Collagen.
    Am J Dermatopathol 2017 Jul;39(7):e90-e96
    Departments of *Dermatology, and †Cellular Pathology, St George's University Hospital, London, United Kingdom; and ‡Department of Immunodermatology, St Thomas' Hospital, London, United Kingdom.
    Brunsting-Perry pemphigoid is defined as an autoimmune vesiculobullous eruption typically localized on the head and neck region with minimal or no mucosal involvement. The disease tends to run a chronic and recurrent course with residual scarring. Histological features are characterized by subepidermal bullae and linear IgG deposits at the dermo-epidermal junction. Read More

    Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations.
    Ann Clin Lab Sci 2017 Mar;47(2):213-216
    Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
    Desmoplakin is an essential cytoplasmic plaque protein in desmosomes, and it is the major linker between intercellular junctions in the skin and heart. The role of desmoplakin is anchoring transmembrane cadherins to cytoplasmic intermediate filaments. The desmoplakin gene (DSP) is located on chromosome 6, and six common allelic disorders are associated with this gene, including autosomal-dominant or -recessive disorders that affect the skin, heart, hair, and nails. Read More

    Renal-skin syndromes.
    Cell Tissue Res 2017 Jul 22;369(1):63-73. Epub 2017 Apr 22.
    Department of Dermatology, University Medical Center Freiburg, Hauptstrasse 7, 79104, Freiburg, Germany.
    Renal-skin syndroms are a group of genetic disorders with renal and cutaneous manifestations that target molecular components present in both organs. Inherited renal-skin syndromes are mainly associated with defects of cell-matrix adhesion. We provide a non-exhaustive overview of the main molecular players at cell-matrix adhesions in mouse models and in human genetic disorders affecting kidney and skin. Read More

    Measuring the impact of dermatological conditions on family and caregivers: a review of dermatology-specific instruments.
    J Eur Acad Dermatol Venereol 2017 Apr 20. Epub 2017 Apr 20.
    Clinical Epidemiology Unit, Istituto Dermopatico dell'Immacolata (IDI)-IRCCS FLMM, Rome, Italy.
    The patient is the centre of a web of relationships, and the impact of his/her disease on family members and caregivers must be taken into account. The aim of this study was to identify the specific instruments that measure the impact of a dermatological disease on the quality of life (QoL) of family members, by performing a systematic search of the literature. Fifteen papers were identified, describing the creation and validation of nine instruments. Read More

    What's new with common genetic skin disorders?
    Minerva Pediatr 2017 Aug 20;69(4):288-297. Epub 2017 Apr 20.
    Department of Dermatology, Rochester, MN, USA -
    Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated. Read More

    "Nails Only" Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex.
    Pediatr Dermatol 2017 Apr 19. Epub 2017 Apr 19.
    Department of Dermatology, Complejo Hospitalario de Toledo, Toledo, Spain.
    Epidermolysis bullosa (EB) is a heterogeneous group of rare, chronic, inherited skin disorders characterized by marked mechanical fragility of epithelial tissues, with blistering and erosions after minor trauma. We present the first report of a nails-only phenotype in two patients with epidermolysis bullosa simplex (EBS) and a heterozygous pGlu170Lys mutation and the second reported case of EBS associated with a homozygous p.Glu170Lys mutation in the KRT5 gene. Read More

    Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.
    J Dermatol Case Rep 2016 Nov 30;10(3):39-48. Epub 2016 Nov 30.
    Centre of Molecular Biology and Gene Therapy, University Hospital Brno and Masaryk University Brno, Brno, Czech Republic.
    Background: Epidermolysis bullosa simplex associated with muscular dystrophy is a genetic skin disease caused by plectin deficiency. A case of a 19-year-old Czech patient affected with this disease and a review all previously published clinical cases are presented.

    Main Observations: In our patient, skin signs of the disease developed after birth. Read More

    [Rehabilitation of Children and Adolescents with Chronic Skin Diseases].
    Rehabilitation (Stuttg) 2017 Apr 10;56(2):127-140. Epub 2017 Apr 10.
    Chronic skin diseases are a common indication for inpatient rehabilitation in children and adolescents. Atopic eczema and psoriasis play the most important role. But other rare congenital dermatoses such as ichthyoses or epidermolysis bullosa can also be rehabilitated. Read More


    Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy.
    Brain 2017 Mar 28. Epub 2017 Mar 28.
    Departamento de Fisiología, Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile, Chile.
    Small fibres in the skin are vulnerable to damage in metabolic or toxic conditions such as diabetes mellitus or chemotherapy resulting in small fibre neuropathy and associated neuropathic pain. Whether injury to the most distal portion of sensory small fibres due to a primary dermatological disorder can cause neuropathic pain is still unclear. Recessive dystrophic epidermolysis bullosa (RDEB) is a rare condition in which mutations of proteins of the dermo-epidermal junction lead to cycles of blistering followed by regeneration of the skin. Read More

    Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa.
    Hum Mol Genet 2017 Feb;26(3):479-488
    Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany.
    The function and stability of collagens depend on the accurate triple helix formation of three distinct polypeptide chains. Disruption of this triple-helical structure can result in connective-tissue disorders. Triple helix formation is thought to depend on three-stranded coiled-coil oligomerization sites within non-collagenous domains. Read More

    Cardiomyopathy in Patients With Hereditary Bullous Epidermolysis.
    Actas Dermosifiliogr 2017 Mar 29. Epub 2017 Mar 29.
    Servicio de Dermatología, Hospital Sant Joan de Déu, Barcelona, España.
    Introduction And Objective: In recent decades, an association has been reported between epidermolysis bullosa (EB) and dilated cardiomyopathy (DC). DC is typically in an advanced phase when detected, leading to a poorer prognosis. Our objective was to determine the prevalence of DC in patients with EB seen in Hospital San Joan de Déu in Barcelona, Spain, between May 1986 and April 2015. Read More

    Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa.
    Intractable Rare Dis Res 2017 Feb;6(1):6-20
    St. John's Institute of Dermatology, King's College London, London, United Kingdom.
    Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of inherited blistering diseases that affects ∼ 500,000 people worldwide. Clinically, individuals with EB have fragile skin and are susceptible to blistering following minimal trauma, with mucous membrane and other organ involvement in some subtypes. Within the spectrum of EB, ∼ 5% of affected individuals have the clinically more severe recessive dystrophic (RDEB) variant with a prevalence of 8 per one million of the population. Read More

    Human Orf complicated by Epidermolysis Bullosa Acquisita.
    Br J Dermatol 2017 Mar 24. Epub 2017 Mar 24.
    Dermatology Department, Saint-Louis Hospital, Paris, France.
    Orf is a DNA parapoxvirus transmitted to humans by contact with infected goats and sheep. Many complications have been reported after Orf infection including erythema multiforme. A few cases of auto-immune bullous dermatosis complicating Orf disease have been reported to date, usually characterized by tense blisters eruptions with or without mucosal involvement, linear deposition of C3, IgG and/or IgA along the basement membrane and negativity of indirect immunofluorescence analysis and ELISA assays (performed in 4 of 11 reported cases) against target antigens of bullous pemphigoid, mucous membrane pemphigoid or epidermolysis bullosa acquisita, except one case of mucosal pemphigoid with antilaminin-332 antibodies. Read More

    Complement Component C3 and Complement Factor B Promote Growth of Cutaneous Squamous Cell Carcinoma.
    Am J Pathol 2017 May 17;187(5):1186-1197. Epub 2017 Mar 17.
    Department of Dermatology, University of Turku and Turku University Hospital, Turku, Finland; MediCity Research Laboratory, University of Turku, Turku, Finland. Electronic address:
    Cutaneous squamous cell carcinoma (cSCC) is one of the most common metastatic skin cancers with increasing incidence. We examined the roles of complement component C3 and complement factor B (CFB) in the growth of cSCC. Analysis of cSCC cell lines (n = 8) and normal human epidermal keratinocytes (n = 11) with real-time quantitative PCR and Western blotting revealed up-regulation of C3 and CFB expression in cSCC cells. Read More

    Botanicals With Dermatologic Properties Derived From First Nations Healing.
    J Cutan Med Surg 2017 Feb 1:1203475417690306. Epub 2017 Feb 1.
    2 Department of Dermatology & Skin Science, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
    Introduction: First Nations people have a long history of working with medicinal plants used to treat skin diseases. The purpose was to assess the dermatologic therapeutic potential of western red cedar, white spruce, birch, balsam poplar, and black spruce.

    Methods: Based on expert recommendations, 5 trees were selected that were used in First Nations medicine for cutaneous healing and have potential and/or current application to dermatology today. Read More

    Compound Heterozygosity of Dominant and Recessive COL7A Alleles in a Severely Affected Patient with a Family History of Dystrophic Epidermolysis Bullosa: Clinical Findings, Genetic Testing, and Treatment Implications.
    Pediatr Dermatol 2017 Mar;34(2):166-171
    Department of Dermatology, Mayo Clinic, Rochester, Minnesota.
    An 8-year-old girl born to a family with more than three generations of dominant dystrophic epidermolysis bullosa (DDEB) presented with life-threatening confluent skin erosions, mitten hand deformity, and failure to thrive. Reassessment of her family history and genetic testing showed compound heterozygous COL7A mutations, one inherited from her DDEB-affected mother and one from her unaffected, healthy father. This family illustrates the risk of unexpected, severe, autosomal recessive epidermolysis bullosa (EB) in a family with milder, multigenerational autosomal dominant EB. Read More

    Gene editing for skin diseases: designer nucleases as tools for gene therapy of skin fragility disorders.
    Exp Physiol 2017 Mar 7. Epub 2017 Mar 7.
    EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology, University Hospital of the Paracelsus Medical University, Salzburg, Austria.
    New Findings: What is the topic of this review? This review concerns current gene editing strategies for blistering skin diseases with respect to individual genetic constellations and distinct conditions. What advances does it highlight? Specificity and safety dominate the discussion of gene editing applications for gene therapy, where a number of tools are implemented. Recent developments in this rapidly progressing field pose further questions regarding which tool is best suited for each particular use. Read More

    Signalling and targeted therapy of inflammatory cells in epidermolysis bullosa acquisita.
    Exp Dermatol 2017 Mar 7. Epub 2017 Mar 7.
    Lübeck Institute of Experimental Dermatology and Department of Dermatology, University of Lübeck, Lübeck, Germany.
    Pemphigoid diseases (PDs) are chronic and life-threatening autoimmune diseases of the skin and mucous membranes. PDs are characterized and caused by autoantibodies targeting components of the basement membrane. In the PD epidermolysis bullosa acquisita (EBA), the target autoantigen is type VII collagen. Read More

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