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    173 results match your criteria Kindler Syndrome

    1 OF 4

    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

    [Hereditary epidermolysis bullosa: French national guidelines (PNDS) for diagnosis and treatment].
    Ann Dermatol Venereol 2017 Jan 5;144(1):6-35. Epub 2016 Dec 5.
    Service de dermatologie, centre de référence des épidermolyses bulleuses héréditaires, hôpital l'Archet 2, CHU de Nice, 151, route Saint-Antoine-de-Ginestière, CS 23079, 06202 Nice cedex 3, France. Electronic address:
    Hereditary epidermolysis bullosa (EB) is a heterogeneous group of rare genetic diseases characterized by fragile skin and/or mucous membrane, and it may be either local or generalized. It is caused by mutations in genes encoding different proteins involved mainly in the structure and function of the dermal-epidermal junction. Nineteen genes have so far been identified. Read More

    UV-B-induced cutaneous inflammation and prospects for antioxidant treatment in Kindler syndrome.
    Hum Mol Genet 2016 Dec;25(24):5339-5352
    Department of Dermatology, Medical Center - University of Freiburg, Freiburg, Germany.
    Kindler syndrome (KS), a rare, autosomal recessive disorder comprises mechanical skin fragility and photosensitivity, which manifest early in life. The progression of the disorder is irreversible and results in tissue damage in form of cutaneous and mucosal atrophy and scarring and epithelial cancers. Here, we unravel molecular mechanisms of increased UV-B sensitivity of keratinocytes derived from KS patients. Read More

    Kindlin-1 Regulates Keratinocyte Electrotaxis.
    J Invest Dermatol 2016 Nov 15;136(11):2229-2239. Epub 2016 Jul 15.
    Department of Dermatology, No. 1 Hospital of China Medical University, Shenyang, China; School of Dentistry, College of Biomedical and Life Sciences, Cardiff University, Cardiff, UK. Electronic address:
    Kindler syndrome (KS) is an autosomal recessive blistering skin disease resulting from pathogenic mutations in FERMT1. This gene encodes kindlin-1, a focal adhesion protein involved in activation of the integrin family of extracellular matrix receptors. Most cases of KS show a marked reduction or complete absence of the kindlin-1 protein in keratinocytes, resulting in defective cell adhesion and migration. Read More

    KIND1 Loss Sensitizes Keratinocytes to UV-Induced Inflammatory Response and DNA Damage.
    J Invest Dermatol 2017 Feb 7;137(2):475-483. Epub 2016 Oct 7.
    Department of Dermatology, Duke University Medical Center, Durham, North Carolina, USA. Electronic address:
    Loss of function of KIND1, a cytoskeletal protein involved in β1-integrin function, causes Kindler syndrome, a genetic disease characterized by skin fragility, photosensitivity, and increased risk of squamous cell carcinoma. Dysregulation of β1-integrin underlies Kindler syndrome skin fragility. However, the mechanisms underlying squamous cell carcinoma susceptibility are unclear. Read More

    A Kindler syndrome-associated squamous cell carcinoma treated with radiotherapy.
    Rep Pract Oncol Radiother 2016 Nov-Dec;21(6):532-6. Epub 2016 Sep 10.
    Institute of Cancer, Hospital Mãe de Deus, Orfanotrofio Str, 299, 90840-440 Porto Alegre, Brazil.
    Kindler syndrome1, 2 is a genetic disorder mainly characterized by increased skin fragility and photosensitivity,3, 4 making the use of treatments based on radiation difficult or even prohibited. Thus, cases reporting Kindler syndrome patients treated with radiotherapy are rare. In this study, we report clinical outcomes and care provided for a rare case of a Kindler syndrome patient submitted to radiotherapy. Read More

    Kindler syndrome: a case of two Iranian sisters.
    G Ital Dermatol Venereol 2016 Jul 8. Epub 2016 Jul 8.
    Department of Surgery, Shahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences and Health Services, Yazd, Iran -
    Kindler syndrome is a rare autosomal recessive condition, characterized by multiple skin and mucosal abnormalities. Among the latter, esophageal involvement is an infrequent manifestation which may be completely asymptomatic or complicate with dysphagia. We report two sisters presenting with cutaneous features and severe dysphagia. Read More

    A Novel Nonsense Mutation in Exon 5 of KIND1 Gene in an Iranian Family with Kindler Syndrome.
    Arch Iran Med 2016 Jun;19(6):403-8
    Department of Biology, Faculty of Science, Yazd University, Yazd, Iran.
    Background: Kindler syndrome (KS) is an autosomal recessive skin disease characterized by actual blistering, photosensitivity and a progressive poikiloderma. The disorder results from rare mutations in the KIND1 gene. This gene contains 15 exons and expresses two kindlin-1 isoforms. Read More

    Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).
    Turk J Pediatr 2015 Jul-Aug;57(4):385-387
    Division of Neonatology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
    Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal- epidermal basement membrane zone. There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome. Read More

    Kindlin1 regulates microtubule function to ensure normal mitosis.
    J Mol Cell Biol 2016 Aug 18;8(4):338-48. Epub 2016 Mar 18.
    Edinburgh Cancer Research Centre, Institute of Genetics & Molecular Medicine, University of Edinburgh, Crewe Road South, Edinburgh EH4 2XR, UK
    Loss of Kindlin 1 (Kin1) results in the skin blistering disorder Kindler Syndrome (KS), whose symptoms also include skin atrophy and reduced keratinocyte proliferation. Kin1 binds to integrins to modulate their activation and more recently it has been shown to regulate mitotic spindles and cell survival in a Plk1-dependent manner. Here we report that short-term Kin1 deletion in mouse skin results in impaired mitosis, which is associated with reduced acetylated tubulin (ac-tub) levels and cell proliferation. Read More

    Ocular manifestations of genetic skin disorders.
    Clin Dermatol 2016 Mar-Apr;34(2):242-75. Epub 2015 Dec 2.
    The Vision Center, Children's Hospital Los Angeles; Department of Ophthalmology, Keck School of Medicine, University of Southern California, 4650 Sunset Blvd, MS #88, Los Angeles, CA, 90027.
    Genetic skin diseases, or genodermatoses, often have extracutaneous manifestations. Ocular manifestations in particular can have significant clinical implications, like blindness. Other manifestations, such as the corneal opacities that occur in X-linked ichthyosis, are asymptomatic but characteristic of a particular genodermatosis. Read More

    Single Amino Acid Deletion in Kindlin-1 Results in Partial Protein Degradation Which Can Be Rescued by Chaperone Treatment.
    J Invest Dermatol 2016 May 28;136(5):920-9. Epub 2016 Jan 28.
    Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany. Electronic address:
    Kindler syndrome, a distinct type of epidermolysis bullosa, is a rare disorder caused by mutations in FERMT1, encoding kindlin-1. Most FERMT1 mutations lead to premature termination codons and absence of kindlin-1. Here we investigated the molecular and cellular consequences of a naturally occurring FERMT1 mutation, c. Read More

    Oral manifestations in Kindler syndrome: case report and discussion of literature findings.
    Spec Care Dentist 2016 Jul 27;36(4):223-30. Epub 2016 Jan 27.
    Professor, Oral Medicine Department, Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
    Kindler syndrome is a rare genetic disorder showing some predominant clinical manifestations, for example, trauma-induced blisters, progressive poikiloderma, skin atrophy, and photosensitivity. Oral manifestations are not commonly described and can be often misdiagnosed. This report describes the case of a female patient diagnosed with Kindler syndrome showing the classical clinical features affecting the skin, in addition to oral lesions manifesting as keratotic plaques and ulcers affecting the buccal mucosa, floor of the mouth, alveolar ridge, hard palate, and soft palate. Read More

    The kindlin family: functions, signaling properties and implications for human disease.
    J Cell Sci 2016 Jan;129(1):17-27
    Max Planck Institute of Biochemistry, Martinsried 82152, Germany
    The kindlin (or fermitin) family of proteins comprises three members (kindlin-1,-2 and -3) of evolutionarily conserved focal adhesion (FA) proteins, whose best-known task is to increase integrin affinity for a ligand (also referred as integrin activation) through binding of β-integrin tails. The consequence of kindlin-mediated integrin activation and integrin-ligand binding is cell adhesion, spreading and migration, assembly of the extracellular matrix (ECM), cell survival, proliferation and differentiation. Another hallmark of kindlins is their involvement in disease. Read More

    Recently Identified Forms of Epidermolysis Bullosa.
    Ann Dermatol 2015 Dec 7;27(6):658-66. Epub 2015 Dec 7.
    St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
    Epidermolysis bullosa (EB) comprises a collection of clinically diverse inherited blistering diseases that affect the skin and, in some subtypes, mucous membranes and other organs. Currently classified into four main subtypes (EB simplex, junctional EB, dystrophic EB, and Kindler syndrome, mainly based on the level of skin cleavage), the spectrum of EB extends to more than 30 clinical subtypes with pathogenic mutations in at least 18 distinct genes. This review focuses on three recent additions to variants of EB: all are autosomal recessive, and result from mutations in either DST-e (coding for epidermal dystonin, also known as the 230 kDa bullous pemphigoid antigen, BP230), EXPH5 (coding for exophilin-5, also known as Slac2-b), or ITGA3 (coding for the integrin alpha-3 subunit). Read More

    Nailfold capillaroscopic changes in Kindler syndrome.
    Intractable Rare Dis Res 2015 Nov;4(4):214-6
    Department of Dermatology and Venereology, Medical University, Plovdiv, Bulgaria.
    Kindler syndrome (KS), the fourth major type of hereditary epidermolysis bullosa (HEB), is a rare, autosomal recessive disorder characterized by skin fragility and blistering at birth followed by development of marked photosensitivity and progressive poikilodermatous skin changes in later years. We reported here the case of a 54-year-old woman, who fulfills the diagnostic criteria of KS type of HEB, putting accent on the nailfold capillaroscopic changes. Using videocapillaroscopy we observed pronounced alterations in finger nail capillaries including reduction in capillary density, features of neoangiogenesis (architectural derangement, elongated loops, extremely tortuous, bushy or branching capillaries, thin, branching and interconnected capillaries), enlarged and giant capillaries. Read More

    A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome.
    J Zhejiang Univ Sci B 2015 Nov;16(11):957-62
    Capital Institute of Pediatrics, Beijing 100020, China.
    Kindler syndrome (KS; OMIM 173650) is a rare autosomal recessive skin disorder, which results in symptoms including blistering, epidermal atrophy, increased risk of cancer, and poor wound healing. The majority of mutations of the disease-determining gene (FERMT1 gene) are single nucleotide substitutions, including missense mutations, nonsense mutations, etc. Large deletion mutations are seldom reported. Read More

    Kindler syndrome with palmoplantar hyperhidrosis and blonde hair.
    Indian Dermatol Online J 2015 Sep-Oct;6(5):330-2
    Department of Dermatology, Venereology and Leprology, Sawai Man Singh Medical College, Jaipur, Rajasthan, India.
    Kindler syndrome (KS) is a very rare genodermatosis characterized by acral blistering starting in infancy along with photosensitivity, progressive poikiloderma, cutaneous atrophy, and a variable degree of mucosal involvement. A large number of other cutaneous and extracutaneous features have been described, which aid in diagnosing it. Generally KS has been found to be associated with hypohidrosis/anhidrosis. Read More

    Is adermatoglyphia an additional feature of Kindler Syndrome?
    An Bras Dermatol 2015 Jul-Aug;90(4):592-3
    Research Laboratories, St John's Institute of Dermatology, London, GB.
    A typical feature of Kindler Syndrome is skin fragility; this condition in currently classified as a form of epidermolysis bullosa. We describe a rarely reported feature of two cases, one sporadic and one familial; both patients noticed acquired adermatoglyphia. The loss of dermatoglyphics could be an additional feature of this syndrome. Read More

    Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran.
    Int J Dermatol 2015 Oct 28;54(10):e416-23. Epub 2015 Jul 28.
    Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Background: Immunofluorescence antigen mapping (IFM), is a newly introduced technique for diagnosis and classification of epidermolysis bullosa (EB) disease. The precise level of skin cleavage can be determined using monoclonal antibodies to EB-specific basement membrane zone protein.

    Objective: To apply IFM technique in diagnosis and classification of EB and to identify utility and limitation of this method in our clinical setting. Read More

    Kindler syndrome protein Kindlin-1 is mainly expressed in adult tissues originating from ectoderm/endoderm.
    Sci China Life Sci 2015 May 15;58(5):432-41. Epub 2015 Jan 15.
    Key Laboratory of Carcinogenesis and Translational Research, Ministry of Education, State Key Laboratory of Natural and Biomimetic Drugs, Peking University Health Science Center, Beijing, 100191, China.
    Mutations of integrin-interacting protein Kindlin-1 cause Kindler syndrome and deregulation of Kindlin-1 is implicated in human cancers. The Kindlin-1-related diseases are confined in limited tissue types. However, Kindlin-1 tissue distribution and the dogma that governs Kindlin-1 expression in normal human body are elusive. Read More

    Oxidative stress and mitochondrial dysfunction in Kindler syndrome.
    Orphanet J Rare Dis 2014 Dec 21;9:211. Epub 2014 Dec 21.
    Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Valencia, Spain.
    Background: Kindler Syndrome (KS) is an autosomal recessive skin disorder characterized by skin blistering, photosensitivity, premature aging, and propensity to skin cancer. In spite of the knowledge underlying cause of this disease involving mutations of FERMT1 (fermitin family member 1), and efforts to characterize genotype-phenotype correlations, the clinical variability of this genodermatosis is still poorly understood. In addition, several pathognomonic features of KS, not related to skin fragility such as aging, inflammation and cancer predisposition have been strongly associated with oxidative stress. Read More

    Kindler syndrome with severe mucosal involvement in a large Palestinian pedigree.
    Eur J Dermatol 2015 Jan-Feb;25(1):14-9
    Dermatology Section, Shifa Hospital, Shifa Street, Gaza, Gaza Strip.
    Background: Kindler syndrome (KS) is a rare autosomal recessive disease of skin fragility, photosensitivity and progressive poikiloderma. Mucous membranes may also be involved. KS is caused by mutations in the FERMT1 gene encoding kindlin-1. Read More

    Kindler's syndrome: a report of five cases in a family.
    J Coll Physicians Surg Pak 2014 Oct;24(10):763-5
    Department of Dermatology, PNS Shifa, Karachi.
    Kindler's Syndrome (KS) is a rare genodermatosis with autosomal recessive mode of inheritance. The disease results from homozygous mutations on both alleles of the FERMT-1 gene (also known as KIND-1 gene) that encodes the protein Kindlin-1 (kindlerin). Clinical features include a constellation of early infantile skin blistering and mild photosensitivity, which improves with age, and progressive poikiloderma with widespread cutaneous atrophy. Read More

    Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.
    J Eur Acad Dermatol Venereol 2015 May 8;29(5):899-903. Epub 2014 Sep 8.
    Department of Dermatology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
    Background: Epidermolysis bullosa (EB) is a rare and so far incurable genetic disease, affecting mainly the skin and mucosal membranes, manifesting with blisters triggered by minor mechanical trauma. Since only few epidemiological data on EB are available, we established a Registry for EB and implemented molecular diagnostic methods.

    Objective: We present epidemiologic data from the EB Registry and genotype-phenotype correlations. Read More

    Diverse functions of kindlin/fermitin proteins during embryonic development in Xenopus laevis.
    Mech Dev 2014 Aug 28;133:203-17. Epub 2014 Aug 28.
    Department of Cell Biology and The Morphogenesis and Regenerative Medicine Institute, University of Virginia, School of Medicine, Charlottesville, VA 22908, USA. Electronic address:
    The kindlin/fermitin family includes three proteins involved in regulating integrin ligand-binding activity and adhesion. Loss-of-function mutations in kindlins1 and 3 have been implicated in Kindler Syndrome and Leukocyte Adhesion Deficiency III (LAD-III) respectively, whereas kindlin2 null mice are embryonic lethal. Post translational regulation of cell-cell and cell-ECM adhesion has long been presumed to be important for morphogenesis, however, few specific examples of activation-dependent changes in adhesion molecule function in normal development have been reported. Read More

    FERMT1 promoter mutations in patients with Kindler syndrome.
    Clin Genet 2015 Sep 7;88(3):248-54. Epub 2014 Oct 7.
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata-IRCCS, Rome, Italy.
    Mutations in the FERMT1 gene, encoding the focal adhesion protein kindlin-1 underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with a phenotype comprising skin blistering, photosensitivity, progressive poikiloderma with extensive skin atrophy, and propensity to skin cancer. The FERMT1 mutational spectrum comprises gross genomic deletions, splice site, nonsense, and frameshift mutations, which are scattered over the coding region spanning exon 2-15. We now report three KS families with mutations affecting the promoter region of FERMT1. Read More

    Immunofluorescence mapping in inherited epidermolysis bullosa: a study of 86 cases from India.
    Br J Dermatol 2015 Feb 23;172(2):384-91. Epub 2014 Dec 23.
    Department of Paediatrics and Dermatology, Centre for Human Genetics, Manipal Hospital, Indira Gandhi Institute of Child Health, Biotech Park, Electronic City Phase 1, Bangalore, 560100, India.
    Background: Epidermolysis bullosa (EB) poses diagnostic challenges in infancy. In India, the diagnosis is largely clinical. There were no facilities to perform immunofluorescence mapping (IFM) until recently, and electron microscopy, which requires expertise to interpret, is limited to a few research laboratories. Read More

    Kindler's syndrome: A rare case report.
    Contemp Clin Dent 2014 Apr;5(2):217-20
    Department of Periodontics, SGRD Institute of Dental Sciences and Research, Amritsar, Punjab, India.
    Kindler syndrome is a rare hereditary disorder, associated with skin fragility. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. Read More

    Kindler syndrome in mice and men.
    Cancer Biol Ther 2014 Sep 11;15(9):1113-6. Epub 2014 Jun 11.
    Department of Dermatology; University of Pennsylvania; Philadelphia, PA USA.
    Kindler syndrome (KS) in humans is a severe skin blistering disease associated with inflammation and increased risk of epidermal squamous cell carcinoma (SCC). This disease is known to be caused by loss-of-function mutations in Kindlin-1, a focal adhesion β-integrin binding protein. Thus far, it has been unclear what specific signaling events occur in KS keratinocytes to promote tumorigenesis, especially since loss of β-integrins and focal adhesion complexes has been previously shown to prevent or delay tumor formation. Read More

    The genetics of skin fragility.
    Annu Rev Genomics Hum Genet 2014 29;15:245-68. Epub 2014 May 29.
    Department of Dermatology, Medical Center-University of Freiburg, Freiburg 79104, Germany; email:
    Genetic skin fragility manifests with diminished resistance of the skin and mucous membranes to external mechanical forces and with skin blistering, erosions, and painful wounds as clinical features. Skin fragility disorders, collectively called epidermolysis bullosa, are caused by mutations in 18 distinct genes that encode proteins involved in epidermal integrity and dermal-epidermal adhesion. The genetic spectrum, along with environmental and genetic modifiers, creates a large number of clinical phenotypes, spanning from minor localized lesions to severe generalized blistering, secondary skin cancer, or early demise resulting from extensive loss of the epidermis. Read More

    Kindlin-1 controls Wnt and TGF-β availability to regulate cutaneous stem cell proliferation.
    Nat Med 2014 Apr 30;20(4):350-9. Epub 2014 Mar 30.
    Department of Molecular Medicine, Max Planck Institute of Biochemistry, Martinsried, Germany.
    Kindlin-1 is an integrin tail binding protein that controls integrin activation. Mutations in the FERMT-1 gene, which encodes for Kindlin-1, lead to Kindler syndrome in man, which is characterized by skin blistering, premature skin aging and skin cancer of unknown etiology. Here we show that loss of Kindlin-1 in mouse keratinocytes recapitulates Kindler syndrome and also produces enlarged and hyperactive stem cell compartments, which lead to hyperthickened epidermis, ectopic hair follicle development and increased skin tumor susceptibility. Read More

    New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome.
    Clin Exp Dermatol 2014 Apr;39(3):361-7
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.
    Background: Kindler syndrome (KS) is a rare autosomal recessive skin disorder, which was recently reclassified as a subtype of epidermolysis bullosa. Despite the fact that loss-of-function mutations in the FERMT1 gene, encoding kindlin-1, have been shown to cause the syndrome in numerous patients, a small number of typical cases of KS in which FERMT1 mutations could not be identified has raised the possibility that the disorder may be genetically heterogeneous.

    Aim: To assess two highly consanguineous families with clinical characteristics of KS. Read More

    Kindler syndrome with severe mucosal involvement in childhood.
    Clin Exp Dermatol 2014 Apr;39(3):340-3
    Department of Dermatology, Venereology and Leprology, Pondicherry Institute of Medical Sciences, Puducherry, India.
    Kindler syndrome (KS) is an inherited dermatosis linked to the FERMT1 gene, and is characterized clinically by trauma-induced acral skin blisters in infancy and childhood, photosensitivity, and progressive poikiloderma. We report a case of KS in a 7-year-old Indian girl with severe mucosal involvement of the oral cavity and genitourinary tract. Mutation analysis in the girl showed a homozygous FERMT1 mutation, c. Read More

    RhoA activation by CNFy restores cell-cell adhesion in kindlin-2-deficient keratinocytes.
    J Pathol 2014 Jul 12;233(3):269-80. Epub 2014 May 12.
    Department of Dermatology, Medical Centre-University of Freiburg, Germany.
    Kindlins are a family of integrin adapter and cell-matrix adhesion proteins causally linked to human genetic disorders. Kindlin-2 is a ubiquitously expressed protein with manifold functions and interactions. The contribution of kindlin-2 to integrin-based cell-matrix adhesions has been extensively explored, while other integrin-independent roles emerge. Read More

    Secrets of the cutaneous basement membrane.
    J Invest Dermatol 2014 Mar;134(3):602-4
    Department of Dermatology, Venereology and Dermato-oncology, Semmelweis University, Budapest, Hungary.
    The paper in this issue by Has and co-workers reports 15 non-Herlitz epidermolysis bullosa patients with the same single amino-acid substitution in collagen XVII, all of whom presented with clinical and pathological features resembling Kindler syndrome. Here we consider why and how a hemidesmosomal pathology can mimic a focal adhesion bond disease, both clinically and ultrastructurally. Read More

    Sporadic Kindler syndrome with a novel mutation.
    An Bras Dermatol 2013 Nov-Dec;88(6 Suppl 1):212-5
    St John's Institute of Dermatology Research Laboratories, London, England.
    We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. Read More

    Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa.
    Orphanet J Rare Dis 2013 Sep 4;8:132. Epub 2013 Sep 4.
    Laboratory of Clinical Pathology, University Hospital of Bari, Piazza Giulio Cesare 11, Bari 70124, Italy.
    Background: Inherited epidermolysis bullosa (EB) is a group of skin diseases characterized by blistering of the skin and mucous membranes.There are four major types of EB (EB simplex, junctional EB, dystrophic EB and Kindler syndrome) caused by different gene mutations. Dystrophic EB is derived from mutations in the type VII collagen gene (COL7A1), encoding a protein which is the predominant component of the anchoring fibrils at the dermal-epidermal junction. Read More

    The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.
    J Invest Dermatol 2014 Mar 4;134(3):845-9. Epub 2013 Sep 4.
    1] Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany [2] Freiburg Institute for Advanced Studies, University of Freiburg, Freiburg, Germany.

    Disorders of the cutaneous basement membrane zone--the paradigm of epidermolysis bullosa.
    Matrix Biol 2014 Jan 3;33:29-34. Epub 2013 Aug 3.
    Department of Dermatology, University Medical Center Freiburg, Germany.
    The cutaneous basement membrane zone (BMZ) is a highly specialized functional complex that provides the skin with structural adhesion and resistance to shearing forces. Its regulatory functions include control of epithelial-mesenchymal interactions under physiological and pathological conditions. Mutations in genes encoding components of the BMZ are associated with inherited skin disorders of the epidermolysis bullosa (EB) group, characterized by skin fragility, mechanically induced blisters and erosions of the skin and mucous membranes. Read More

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