200 results match your criteria Kindler Syndrome


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

Clin Genet 2019 Apr 19. Epub 2019 Apr 19.

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

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

View Article

Download full-text PDF

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

Kindler syndrome: a rare case report from Greece.

Oxf Med Case Reports 2019 Feb 25;2019(2):omz003. Epub 2019 Feb 25.

Department of Dermatology, University of Patras, Greece.

Kindler syndrome is a rare autosomal recessive inherited disease characterized by infantile acral bullae, progressive poikiloderma, cutaneous atrophy, photosensitivity and various forms of mucosal involvement. In this paper, we report a case of a 49-year-old Greek Caucasian male aiming to emphasize the importance of genetic analysis as a gold standard of diagnosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/omcr/omz003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396407PMC
February 2019

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

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

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

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.17698DOI Listing
January 2019
2 Reads

A case of Kindler syndrome in a young Indian female with exon deletion.

Int J Dermatol 2019 Jan 9;58(1):e19-e21. Epub 2018 Nov 9.

Department of Dermatology, Tokyo Medical University, Tokyo, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.14288DOI Listing
January 2019
1 Read

Topical sucralfate cream treatment for aplasia cutis congenita with dystrophic epidermolysis bullosa: a case study.

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

View Article

Download full-text PDF

Source
http://www.magonlinelibrary.com/doi/10.12968/jowc.2018.27.11
Publisher Site
http://dx.doi.org/10.12968/jowc.2018.27.11.768DOI Listing
November 2018
30 Reads

[Recurrent pyoderma in Kindler syndrome].

Hautarzt 2018 Oct;69(Suppl 1):16-18

Klinik und Poliklinik für Dermatologie und Allergologie der Ludwig-Maximilians-Universität München, Frauenlobstr. 9-11, 80337, München, Deutschland.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00105-018-4198-2
Publisher Site
http://dx.doi.org/10.1007/s00105-018-4198-2DOI Listing
October 2018
3 Reads

Kindlin-1 Regulates Epidermal Growth Factor Receptor Signaling.

J Invest Dermatol 2019 Feb 21;139(2):369-379. Epub 2018 Sep 21.

St. Johns Institute of Dermatology, King's College London, Guy's Campus, London, UK; Nikon Imaging Centre, King's College London, Guy's Campus, London, UK. Electronic address:

Kindler syndrome is an autosomal recessive genodermatosis that results from mutations in the FERMT1 gene encoding t kindlin-1. Kindlin-1 localizes to focal adhesion and is known to contribute to the activation of integrin receptors. Most cases of Kindler syndrome show a reduction or complete absence of kindlin-1 in keratinocytes, resulting in defective integrin activation, cell adhesion, and migration. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S0022202X183258
Publisher Site
http://dx.doi.org/10.1016/j.jid.2018.08.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345584PMC
February 2019
12 Reads

Management of a rare presentation of Kindler disease with digital constriction bands-Case report.

Pediatr Dermatol 2018 Nov 6;35(6):864-865. Epub 2018 Sep 6.

Hands and Upper Limb Service, Birmingham Women's and Children's Hospital, Birmingham, UK.

Kindler disease is a type of epidermolysis bullosa associated with acral blistering, diffuse cutaneous atrophy, poikiloderma, mucosal stenosis, and photosensitivity. This is the first case report in the literature to describe constriction bands associated with Kindler disease causing ischemia of the fingertips requiring urgent release and full-thickness skin grafts. Dermatologists reviewing such patients need to be aware of this condition and refer to a children's hand surgeon early to avoid leaving patients with prolonged periods of pain. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.13674DOI Listing
November 2018
1 Read

Kindler syndrome in a patient with colitis and primary sclerosing cholangitis: coincidence or association?

Dermatol Online J 2018 Mar 15;24(3). Epub 2018 Mar 15.

Centro Hospitalar Lisboa Norte EPE, Hospital de Santa Maria, Serviço de Dermatologia, Lisboa, Portugal.

Kindler syndrome is a rare, autosomal recessive genodermatosis, caused by mutations in the FERMT1 gene. It is thought to be primarily a skin disease, but other organs may also be involved. We report a case of a novel mutation of FERMT1 gene in a patient with a probable new phenotype of Kindler syndrome, including colitis and primary sclerosing cholangitis. Read More

View Article

Download full-text PDF

Source
March 2018
5 Reads

Kindler Syndrome.

Indian Pediatr 2018 01;55(1):85

Department of Dermatology and STD, Lady Hardinge Medical College and associated hospitals, New Delhi, India.

View Article

Download full-text PDF

Source
January 2018
1 Read

Ophthalmologic Approach in Epidermolysis Bullosa: A Cross-Sectional Study With Phenotype-Genotype Correlations.

Cornea 2018 Apr;37(4):442-447

Cornea Department, Fundación Oftalmológica Los Andes, Santiago, Chile.

Purpose: This study describes ophthalmologic and systemic clinical findings in different subtypes of epidermolysis bullosa (EB) establishing genotype-phenotype correlations.

Methods: A cross-sectional study was conducted in 58 patients with EB together with the Dystrophic Epidermolysis Bullosa Research Association, Chile. Data were stratified by major subtypes such as "simplex epidermolysis bullosa" (EBS), "junctional epidermolysis bullosa" (JEB), "recessive and dominant dystrophic epidermolysis bullosa" and "dominant dystrophic epidermolysis bullosa" (DDEB), and "Kindler syndrome" (KS). Read More

View Article

Download full-text PDF

Source
http://Insights.ovid.com/crossref?an=00003226-201804000-0000
Publisher Site
http://dx.doi.org/10.1097/ICO.0000000000001525DOI Listing
April 2018
9 Reads

Natural history of Kindler syndrome and propensity for skin cancer - case report and literature review.

J Dtsch Dermatol Ges 2018 Mar 31;16(3):338-341. Epub 2018 Jan 31.

Department of Dermatology and Venereology, -University Hospital "Alexandrovska", Faculty of Medicine, Sofia -University of Medicine, Sofia, Bulgaria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ddg.13435DOI Listing
March 2018
2 Reads

Genetic diagnosis of epidermolysis bullosa: recommendations from an expert Spanish research group.

Actas Dermosifiliogr 2018 Mar 26;109(2):104-122. Epub 2017 Nov 26.

Departamento de Bioingeniería, Universidad Carlos III de Madrid; Unidad de Medicina Regenerativa, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), IIS-Fundación Jiménez Díaz, CIBER de Enfermedades Raras (ISCIII) U714, Madrid, España. Electronic address:

Epidermolysis bullosa (EB) is a rare genetic disease that causes mucocutaneous fragility. It comprises a clinically and genetically heterogeneous group of disorder characterized by spontaneous or contact/friction-induced blistering. EB is classified into 4 types-simplex, junctional, dystrophic, and Kindler syndrome-and 30 subtypes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ad.2017.08.008DOI Listing
March 2018
2 Reads

[Epidermolysis bullosa in peru: clinical and epidemiological study of patients treated in a national reference pediatric hospital, 1993-2015].

Rev Peru Med Exp Salud Publica 2017 Apr-Jun;34(2):201-208

Instituto Nacional de Salud del Niño. Lima, Perú.

Objectives: To describe the clinical and epidemiological characteristics of patients diagnosed with epidermolysis bullosa (EB) at the Instituto Nacional de Salud (INSN) in Lima, Peru; a National Reference Center for this disease.

Materials And Methods: Observational, descriptive and transversal study. We reviewed the clinical histories and laboratory tests of patients diagnosed with EB treated in INSN from 1993 to 2015. Read More

View Article

Download full-text PDF

Source
https://rpmesp.ins.gob.pe/index.php/rpmesp/article/view/2484
Publisher Site
http://dx.doi.org/10.17843/rpmesp.2017.342.2484DOI Listing
August 2018
3 Reads

[Detection of influenza A, B and subtypes A (H1N1) pdm09, A (H3N2) viruses by multiple qrt-pcr in clinical samples].

Rev Peru Med Exp Salud Publica 2017 Apr-Jun;34(2):192-200

Laboratorio de Referencia Nacional de Biología Molecular y Biotecnología, Centro Nacional de Salud Pública, Instituto Nacional de Salud. Lima, Perú.

Objectives.: To describe the clinical and epidemiological characteristics of patients diagnosed with epidermolysis bullosa (EB) at the Instituto Nacional de Salud (INSN) in Lima, Peru; a National Reference Center for this disease.

Material And Methods: . Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.17843/rpmesp.2017.342.2054DOI Listing
August 2018
5 Reads

Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree.

Turk J Pediatr 2017 ;59(1):56-61

Departments of Dermatology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey.

Talo-Yıldırım T, Acun-Kaya F, Taşkesen M, Dündar S, Bozoğlan A, Tekin GG, Akdeniz S. Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree. Turk J Pediatr 2017; 59: 56-61. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.24953/turkjped.2017.01.009DOI Listing
December 2017
4 Reads

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

Matrix Biol 2018 03 11;66:22-33. Epub 2017 Nov 11.

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) is caused by mutations in as many as 19 distinct genes. We have developed a next-generation sequencing (NGS) panel targeting genes known to be mutated in skin fragility disorders, including tetraspanin CD151 expressed in keratinocytes at the dermal-epidermal junction. The NGS panel was applied to a cohort of 92 consanguineous families of unknown subtype of EB. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S0945053X173024
Publisher Site
http://dx.doi.org/10.1016/j.matbio.2017.11.003DOI Listing
March 2018
18 Reads
1 Citation
5.070 Impact Factor

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Int J Dermatol 2017 Dec;56(12):1406-1413

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Background: Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study.

Methods: Homozygosity mapping, exome, and Sanger sequencing were employed to search for the disease-causing variants in the 10 families. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.13778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094939PMC
December 2017
54 Reads
1.227 Impact Factor

Erosive pustular dermatosis of the scalp and Kindler syndrome: a new association.

J Eur Acad Dermatol Venereol 2018 Mar 19;32(3):e102-e104. Epub 2017 Sep 19.

Section of Dermatology, AOU of Cagliari - Department of Medical Science and Public Health, University of Cagliari, Cagliari, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jdv.14577DOI Listing
March 2018
2 Reads

Breast cancer in a patient with Kindlers syndrome.

J Pak Med Assoc 2017 Aug;67(8):1283-1286

Department of Pathology, The Royal Hospital, Muscat, Sultanate of Oman..

Breast Cancer (BC) has associated risk factors and genetic factors like BRCA1, and BRCA2. Many benign and malignant disease processes are found concurrently with BC and believed to be additional risk factors like gall bladder stones (cholelithiasis), hypertension, diabetes mellitus, cerebrovascular lesions, arthritis, spine and spinal cord degenerative lesions, infertility, depression, sleep disturbances, obesity, autoimmune diseases (SLE), and thyroid diseases. There are some malignant disease associations like synchronous or metachronous ovarian, colonic and endometrial tumours with Breast cancer. Read More

View Article

Download full-text PDF

Source
August 2017
11 Reads

Dysphagia Due to Kindler Syndrome.

Am J Gastroenterol 2017 Jul;112(7):983

Department of Dermatology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ajg.2017.102DOI Listing
July 2017
9 Reads

Structural basis of kindlin-mediated integrin recognition and activation.

Proc Natl Acad Sci U S A 2017 08 24;114(35):9349-9354. Epub 2017 Jul 24.

Department of Biology, Southern University of Science and Technology, Shenzhen 518055, China;

Kindlins and talins are integrin-binding proteins that are critically involved in integrin activation, an essential process for many fundamental cellular activities including cell-matrix adhesion, migration, and proliferation. As FERM-domain-containing proteins, talins and kindlins, respectively, bind different regions of β-integrin cytoplasmic tails. However, compared with the extensively studied talin, little is known about how kindlins specifically interact with integrins and synergistically enhance their activation by talins. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1703064114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584418PMC
August 2017
8 Reads

Focal adhesions in the skin: lessons learned from skin fragility disorders.

Eur J Dermatol 2017 Jun;27(S1):8-11

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

Focal adhesions are large multiprotein cell-matrix adhesion complexes, which regulate multiple cellular functions, such as adhesion and migration. Their biological significance in skin is underscored by two genetic disorders, the Kindler syndrome and the interstitial lung disease, nephrotic syndrome and epidermolysis bullosa, in which mutations affect focal adhesion proteins, kindlin-1 and the integrin α3 subunit, respectively. Here we provide an overview of what we learned from the study of the molecular mechanisms of these diseases. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/ejd.2017.3039DOI Listing
June 2017
3 Reads

Raising Awareness Among Healthcare Providers about Epidermolysis Bullosa and Advancing Toward a Cure.

J Clin Aesthet Dermatol 2017 May 1;10(5):36-48. Epub 2017 May 1.

GenArmor, Winston-Salem, North Carolina.

Epidermolysis bullosa (EB) is an orphan disease that affects about half a million people worldwide, but may not be familiar to all clinicians. The authors' goal was to present a short description of this condition and current research in the form of a narrative review. The authors reviewed the literature on epidermolysis bullosa in order to describe the condition and current genetic research. Read More

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479476PMC
May 2017
8 Reads

Kindler syndrome complicated by invasive squamous cell carcinoma of the palate.

Eur Ann Otorhinolaryngol Head Neck Dis 2018 Feb 20;135(1):59-61. Epub 2017 Jun 20.

Service d'otorhinolaryngologie et de chirurgie cervico-faciale, hôpital 20 aout 1953, CHU Ibn Rochd, Casablanca, Morocco.

Introduction: Kindler syndrome is a very rare, autosomal recessive genodermatosis characterized by skin fragility and photosensitivity in infancy with progressive poikiloderma.

Case Report: We report the case of a young woman with a history of Kindler syndrome predominantly characterized by extensive involvement of the oropharyngeal mucosa. The patient presented with an ulcerative lesion of the palate. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.anorl.2017.05.003DOI Listing
February 2018
3 Reads

Kindlin-1 protects cells from oxidative damage through activation of ERK signalling.

Free Radic Biol Med 2017 07 10;108:896-903. Epub 2017 May 10.

Edinburgh Cancer Research UK Centre, Institute of Genetics & Molecular Medicine, University of Edinburgh, Crewe Road South, Edinburgh EH4 2XR, UK. Electronic address:

Kindlin-1 is a FERM domain containing adaptor protein that is found predominantly at cell-extracellular matrix adhesions where it binds to β-integrin subunits and is required for integrin activation. Loss of function mutations in the FERMT1 gene which encodes Kindlin-1 leads to the development of Kindler Syndrome (KS) an autosomal recessive skin disorder characterized by skin blistering, photosensitivity, and predisposition to aggressive squamous cell carcinoma (SCC). Here we show that loss of Kindlin-1 sensitizes both SCC cells and keratinocytes to oxidative stress: Kindlin-1 deficient cells have higher levels of reactive oxygen species, decreased viability and increased DNA damage after treatment with either hydrogen peroxide (HO) or irradiation with UVA. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.freeradbiomed.2017.05.013DOI Listing
July 2017
3 Reads

Cardiomyopathy in Patients With Hereditary Bullous Epidermolysis.

Actas Dermosifiliogr 2017 Jul - Aug;108(6):544-549. Epub 2017 Mar 30.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ad.2017.01.015DOI Listing
May 2018
8 Reads

[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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.annder.2016.07.016DOI Listing
January 2017
4 Reads

Two novel mutations in KIND1 in Indian patients with Kindler syndrome.

Clin Exp Dermatol 2017 Jan 15;42(1):95-97. Epub 2016 Nov 15.

Centre for Human Genetics, Bangalore Centre for Human Genetics, Biotech Park, Bangalore, India.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/ced.12946
Publisher Site
http://dx.doi.org/10.1111/ced.12946DOI Listing
January 2017
2 Reads

UV-B-induced cutaneous inflammation and prospects for antioxidant treatment in Kindler syndrome.

Hum Mol Genet 2016 12;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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddw350DOI Listing
December 2016
5 Reads

Kindlin-1 Regulates Keratinocyte Electrotaxis.

J Invest Dermatol 2016 11 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2016.05.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5756539PMC
November 2016
19 Reads

KIND1 Loss Sensitizes Keratinocytes to UV-Induced Inflammatory Response and DNA Damage.

J Invest Dermatol 2017 02 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2016.09.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5258776PMC
February 2017
9 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.rpor.2016.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021847PMC
September 2016
7 Reads

Homozygous Deletion Mutation of the FERMT1 Gene in a Chinese Patient with Kindler Syndrome.

Ann Dermatol 2016 Aug 26;28(4):503-5. Epub 2016 Jul 26.

Department of Dermatology and Cutaneous Biology Research Institute, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5021/ad.2016.28.4.503DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4969485PMC
August 2016
6 Reads

Kindler syndrome: the case of two Iranian sisters.

G Ital Dermatol Venereol 2018 Feb 8;153(1):111-114. Epub 2016 Jul 8.

Islamic Azad University, Ashkzar Branch, Ashkzar, 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 complicated by dysphagia. We report the case of two sisters presenting with cutaneous features and severe dysphagia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.23736/S0392-0488.16.04887-2DOI Listing
February 2018
5 Reads
0.491 Impact Factor

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

View Article

Download full-text PDF

Source
http://dx.doi.org/0161906/AIM.006DOI Listing
June 2016
5 Reads

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

View Article

Download full-text PDF

Source
February 2017
8 Reads

Clinical Snippets.

Authors:

J Invest Dermatol 2016 05 20;136(5):888. Epub 2016 Apr 20.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2016.03.007DOI Listing
May 2016
5 Reads

Kindlin1 regulates microtubule function to ensure normal mitosis.

J Mol Cell Biol 2016 08 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/jmcb/mjw009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4991666PMC
August 2016
8 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clindermatol.2015.11.008DOI Listing
December 2016
9 Reads

Single Amino Acid Deletion in Kindlin-1 Results in Partial Protein Degradation Which Can Be Rescued by Chaperone Treatment.

J Invest Dermatol 2016 05 28;136(5):920-929. 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2015.12.039DOI Listing
May 2016
6 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/scd.12165DOI Listing
July 2016
12 Reads

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

View Article

Download full-text PDF

Source
http://jcs.biologists.org/content/joces/129/1/17.full.pdf
Web Search
http://jcs.biologists.org/cgi/doi/10.1242/jcs.161190
Publisher Site
http://dx.doi.org/10.1242/jcs.161190DOI Listing
January 2016
3 Reads

Recently Identified Forms of Epidermolysis Bullosa.

Authors:
John A McGrath

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5021/ad.2015.27.6.658DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4695416PMC
December 2015
5 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5582/irdr.2015.01038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4660865PMC
November 2015
4 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1631/jzus.B1500080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642877PMC
November 2015
17 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/2229-5178.164482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4594392PMC
October 2015
8 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1590/abd1806-4841.20153501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4560555PMC
March 2016
8 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.12804DOI Listing
October 2015
38 Reads
1.230 Impact Factor