225 results match your criteria Kindler Syndrome

HPV-5 associated cutaneous squamous cell carcinoma in situ in poikiloderma with neutropenia.

Clin Exp Dermatol 2021 Jun 22. Epub 2021 Jun 22.

Institute of Virology, National Reference Center for Papilloma- and Polyomaviruses, University of Cologne, Germany.

Dear Editor, Poikiloderma with neutropenia (PN), Clericuzio-type (OMIM #604173), is a rare autosomal recessive genodermatosis induced by biallelic mutations in the USB1-gene. PN is characterized by early-onset poikiloderma, permanent neutropenia, and recurrent sinopulmonary infections. Additionally, a broad spectrum of cutaneous and hematological complications might occur. Read More

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Immunological mechanisms underlying progression of chronic wounds in recessive dystrophic epidermolysis bullosa.

Exp Dermatol 2021 Jun 17. Epub 2021 Jun 17.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.

Hereditary epidermolysis bullosa (EB) is a mechanobullous skin fragility disorder characterized by defective epithelial adhesion, leading to mechanical stress-induced skin blistering. Based on the level of tissue separation within the dermal-epidermal junction, EB is categorized into simplex (EBS), junctional (JEB), dystrophic (DEB), and Kindler syndrome. There is no cure for EB, and painful chronic cutaneous wounds are one of the major complications in recessive (RDEB) patients. Read More

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Epidermolysis bullosa: Pediatric perspectives.

Curr Pediatr Rev 2021 May 25. Epub 2021 May 25.

Department of Pediatrics, The University of Calgary, and The Alberta Children's Hospital, Calgary, Alberta, Canada.

Epidermolysis bullosa (EB) is a group of rare congenital genetic conditions that result in painful blistering of the skin and mucous membranes which occur with minor trauma or friction. There are many types and subtypes of EB that need to be distinguished, as the management and prognosis of each can vary significantly. We aim to perform an up-to-date literature review on congenital EB for healthcare providers in pediatrics. Read More

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Novel mutations of epidermolysis bullosa identified using whole-exome sequencing in Indonesian Javanese patients.

Intractable Rare Dis Res 2021 May;10(2):88-94

Doctoral Study Program, Faculty of Medicine, Public Health and Nursing Universitas Gadjah Mada, Yogyakarta, Indonesia.

Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases known to have heterogenicity of phenotypes and genotypes. There are four main types of EB: simplex, junctional, dystrophic, and Kindler syndrome, which are further classified into 34 distinct subtypes. Twenty different gene mutations are responsible for the loss of function and integrity of the basal membrane zone. Read More

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Epidermolysis Bullosa in Spain: Observational Study of a Cohort of Patients Treated in a National Referral Center.

Actas Dermosifiliogr 2021 May 10. Epub 2021 May 10.

Servicio de Dermatología, Hospital Universitario La Paz, Madrid, España.

Background And Objective: Epidermolysis bullosa (EB) is a heterogeneous group of inherited disorders characterized by a high degree of mucocutaneous fragility. This study aimed to describe the clinical and epidemiologic characteristics of patients with EB treated in Hospital Universitario La Paz, a national referral center for inherited EB.

Material And Methods: Observational, retrospective, single-center study. Read More

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Periodontal Manifestation in a Patient with Kindler Syndrome.

Case Rep Dent 2021 8;2021:6671229. Epub 2021 Mar 8.

Department of Oral and Maxillofacial Surgery, TDC Dental Clinic, Antalya, Turkey.

Kindler syndrome is a rare subtype of inherited epidermolysis bullosa. A 42-year-old female patient was admitted to our clinic with a complaint of tooth mobility. Multiple hypo- and hyperpigmented macules dissipated all over her body, prominent poikilodermatous changes, xerosis of the skin, and atrophy were seen in the clinical extraoral examination. Read More

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Inherited skin disorders presenting with poikiloderma.

Int J Dermatol 2021 Mar 19. Epub 2021 Mar 19.

Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.

Poikiloderma is a skin condition that combines atrophy, telangiectasia, and macular pigment changes (hypo- as well as hyperpigmentation). It is often mistaken for mottled pigmentation by general practitioners or nondermatology specialists. Poikiloderma can be a key presenting symptom of Rothmund-Thomson syndrome (RTS), dyskeratosis congenita (DC), hereditary sclerosing poikiloderma (HSP), hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP), xeroderma pigmentosum (XP), Bloom syndrome (BS), Kindler syndrome (KS), and Clericuzio-type poikiloderma with neutropenia (PN). Read More

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Oral Care in Kindler Syndrome: 7-Year Follow-up of 2 Brothers.

J Clin Pediatr Dent 2021 Jan;45(1):41-47

Background: Kindler poikiloderma is an inherited autosomal genodermatosis characterized by blistering of the epidermis and mucosae. Its prevalence is unknown.

Case Report: We monitored two brothers suffering from this pathology. Read More

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January 2021

Severe epidermolysis bullosa/Kindler syndrome-like phenotype of an autoinflammatory syndrome in a child.

Clin Exp Dermatol 2021 Jun 24;46(4):795-799. Epub 2021 Feb 24.

Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

A 5-year-old boy presented with generalized cutaneous erosions, severe scarring, depigmentation and contractures affecting major joints. The lesions had initially affected his ears, nose, feet, and the genital and ocular mucosa, leading to significant depigmentation, scarring, contractures and mutilation. The whole of the trunk and limbs were involved at the time of presentation, with the exception of some islands of spared skin on the proximal thighs, legs, nipples and external genitalia. Read More

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[Age-related dynamics of mouth opening and tongue mobility in children with various forms of epidermolysis bullosa].

Stomatologiia (Mosk) 2021 ;100(1):55-59

Central Research Institute of Dentistry and Maxillofacial Surgery, Moscow, Russia.

The Aim Of The Study: Was to assess age-related changes in mouth opening and tongue mobility in children with various forms of epidermolysis bullosa (EB). Materials and methods. The study comprised 50 EB children (mean age 8. Read More

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February 2021

Inhibition of α-adrenoceptor is renoprotective in 5/6 nephrectomy-induced chronic kidney injury rats.

J Pharmacol Sci 2021 Jan 17;145(1):79-87. Epub 2020 Nov 17.

Laboratory of Clinical Pharmacology, Faculty of Pharmacy, Osaka Ohtani University, 3-11-1 Nishikiori-kita, Tondabayashi, Osaka, 584-8540, Japan. Electronic address:

In the present study, we investigated the renoprotective effects of long-term treatment with yohimbine, an α-adrenoceptor inhibitor, in a 5/6 nephrectomy-induced chronic kidney disease (CKD) rat model. Male Sprague-Dawley rats were randomly allocated into the following groups: sham-operated, 5/6-nephrectomized (5/6 Nx), 5/6 Nx + low or high dose of yohimbine (0.3 or 3. Read More

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January 2021

A novel frameshift mutation in the gene in a Chinese patient with Kindler syndrome.

Exp Ther Med 2020 Nov 17;20(5):103. Epub 2020 Sep 17.

Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, P.R. China.

Kindler syndrome (KS) is a rare subtype of epidermolysis bullosa that is inherited in an autosomal recessive manner with mutations in . A number of mutations in have been identified in KS. The current study reported a 33-year-old Chinese man who exhibited a wide variety of clinical features, including formation of blisters, photosensitivity, cutaneous atrophy and poikiloderma, telangiectasia of the face and neck, contracture of the end limbs, nail dystrophy, muscle, eye and oral damage, tympanitis, esophagus narrowing, pneumothorax and palmoplantar keratoderma. Read More

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November 2020

Kindler Syndrome: A Multidisciplinary Management Approach.

Actas Dermosifiliogr (Engl Ed) 2020 Nov 27;111(9):775-780. Epub 2020 Aug 27.

Servicio de Dermatología, Instituto Nacional de Salud del Niño, Breña, Lima, Perú.

Kindler syndrome is a very rare form of bullous epidermolysis. It is a hereditary condition caused by a mutation in the FERMT1 gene that encodes the protein kindlin-1. It is clinically characterized by trauma-induced blistering, diffuse skin atrophy, poikiloderma, pseudosyndactyly, and photosensitivity. Read More

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November 2020

Electrochemotherapy, a local treatment for squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa.

Dermatol Ther 2020 11 7;33(6):e14093. Epub 2020 Sep 7.

Department of General Surgery, Portuguese Institute of Oncology of Lisbon, Lisbon, Portugal.

Epidermolysis Bullosa (EB) is a rare group of diseases caused by genetic variants in skin structural proteins. EB is characterized by varying degrees of skin fragility, blisters and impaired wound healing, and is classified based on the ultrastructural levels of skin cleavage-simplex, junctional, dystrophic, and Kindler Syndrome. Squamous cell carcinoma (SCC) is the most severe complication and most common cause of death of patients with EB, particularly in those with recessive dystrophic Epidermolysis Bullosa (RDEB). Read More

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November 2020

Kindler syndrome with unique ocular findings.

Indian J Ophthalmol 2020 06;68(6):1182

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

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Dermoscopy of Kindler Syndrome.

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

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

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Previously Unreported Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa.

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

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January 2020

A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina.

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

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Skin cleansing and topical product use in patients with epidermolysis bullosa: Results from a multicenter database.

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

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Unique variants in the gene and gene in a Chinese patient with ichthyosis and Kindler syndrome.

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.

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December 2019

Flightless I, a contributing factor to skin blistering in Kindler syndrome patients?

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.

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February 2020

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.

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

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Inhibition of cyclin-dependent kinase activity exacerbates H O -induced DNA damage in Kindler syndrome keratinocytes.

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

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September 2019

Oleogel-S10 Phase 3 study "EASE" for epidermolysis bullosa: study design and rationale.

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

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Newer Treatment Modalities in Epidermolysis Bullosa.

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

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

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

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September 2019

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

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February 2019

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

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

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September 2019

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.

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January 2019

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

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

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November 2018