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Indian J Ophthalmol 2020 Jun;68(6):1182

Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Dermatol Pract Concept 2020 3;10(2):e2020034. Epub 2020 Apr 3.

Department of Dermatology, Armed Forces Medical College, Pune, India.

Mol Syndromol 2020 Jan 16;10(6):332-338. Epub 2019 Nov 16.

Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

Epidermolysis bullosa (EB) encompasses a group of inheritable skin disorders characterized by various degrees of epithelial fragility that lead to cutaneous and mucosal blistering following negligible mechanical traumas. These disorders are clinically and genetically heterogeneous, ranging from mild skin involvement to severe disabling conditions with associated manifestations affecting the gastrointestinal and vesico-urinary tracts. EB may be classified into 4 main categories: simplex, junctional, dystrophic, and Kindler syndrome. Read More

Pediatr Dermatol 2020 Mar 20;37(2):337-341. Epub 2020 Jan 20.

CEDIGEA, Centro de investigaciones en Genodermatosis y Epidermólisis Ampollar, Hospital de Niños Dr. Ricardo Gutiérrez / Facultad de Medicina, Universidad de Buenos Aires, Buenos Aires, Argentina.

Background: Kindler syndrome is a rare genodermatosis. Major clinical criteria include acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility.

Methods: FERMT1 gene was sequenced in 5 patients with a clinical diagnosis of Kindler syndrome. Read More

Pediatr Dermatol 2020 Mar 15;37(2):326-332. Epub 2020 Jan 15.

Departments of Dermatology and Pediatrics, Columbia University Irving Medical Center, New York, New York.

Background/objectives: Epidermolysis bullosa (EB) comprises a group of inherited skin blistering diseases. There is currently no cure, and management includes skin protection and prevention of infection. To date, there has been no systematic investigation of home skin care practices among EB patients on a multicenter scale. Read More

JAAD Case Rep 2019 Dec 22;5(12):1061-1064. Epub 2019 Nov 22.

Department of Dermatology, Hospital of Sun Yat-Sen Memorial, University of Sun Yat-Sen, Guangzhou, China.

J Cutan Pathol 2020 Feb 6;47(2):186-189. Epub 2019 Nov 6.

Regenerative Medicine, Future Industries Institute, University of South Australia, Adelaide, South Australia, Australia.

Orphanet J Rare Dis 2019 07 24;14(1):183. Epub 2019 Jul 24.

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

Background: Kindler Syndrome (KS) is a rare genodermatosis characterized by skin fragility, skin atrophy, premature aging and poikiloderma. It is caused by mutations in the FERMT1 gene, which encodes kindlin-1, a protein involved in integrin signalling and the formation of focal adhesions. Several reports have shown the presence of non-melanoma skin cancers in KS patients but a systematic study evaluating the risk of these tumors at different ages and their potential outcome has not yet been published. Read More

Exp Dermatol 2019 09 31;28(9):1074-1078. Epub 2019 Jul 31.

Edinburgh Cancer Research UK Centre, Institute of Genetics & Molecular Medicine, University of Edinburgh, Edinburgh, UK.

Kindler syndrome (KS) is an autosomal recessive skin disorder characterized by skin blistering and photosensitivity. KS is caused by loss of function mutations in FERMT1, which encodes Kindlin-1. Kindlin-1 is a FERM domain containing adaptor protein that is found predominantly at cell-extracellular matrix adhesions where it binds to integrin β subunits and is required for efficient integrin activation. Read More

Trials 2019 Jun 11;20(1):350. Epub 2019 Jun 11.

Department of Paediatric Dermatology, Great Ormond Street Hospital NHS Foundation Trust, London, UK.

Background: Epidermolysis bullosa (EB) is a group of rare, genetic diseases that affect the integrity of epithelial tissues, most notably the skin. Patients experience recurrent skin wounding, with severity depending on type, sub-type, and mutation. Oleogel-S10, a formulation of birch bark extract, has demonstrated efficacy in a Phase 2 trial assessing re-epithelialization of wounds in EB. Read More

Indian Dermatol Online J 2019 May-Jun;10(3):244-250

Department of Dermatology, Medical Center - University of Freiburg, Hauptstrasse 7, Freiburg 79104, Baden-Wuerttemberg, Germany.

The term epidermolysis bullosa (EB) refers to a group of hereditary skin blistering diseases. The group is clinically and genetically heterogeneous, but all EB forms are associated with mechanically induced skin blistering and fragility. The causative gene mutations of most EB types are known. Read More

Clin Genet 2019 09 29;96(3):189-198. Epub 2019 May 29.

Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, 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

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

Br J Dermatol 2019 09 15;181(3):512-522. Epub 2019 Apr 15.

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

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

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

J Wound Care 2018 11;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

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.

J Invest Dermatol 2019 02 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

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

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

Indian Pediatr 2018 01;55(1):85

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

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

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.

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

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

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

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

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.

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

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

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

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

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.

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

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

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

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