231 results match your criteria Kindler Syndrome


Urological Manifestations of Kindler Syndrome: A Case Report.

Cureus 2022 May 5;14(5):e24758. Epub 2022 May 5.

Urology, All India Institute of Medical Sciences, Rishikesh, IND.

Kindler syndrome is a rare autosomal recessive skin disorder. It results from mutation of the FERM domain containing kindlin-1 (FERMT1) that leads to loss of function of kindlin-1, which plays a role in keratinocyte adhesion, polarization, proliferation, and migration. It is characterized by skin blistering, photosensitivity, progressive poikiloderma, and skin atrophy. Read More

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[Clinical Characteristics and Gene Mutations in 186 Cases of Kindler Syndrome].

Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2022 Apr;44(2):227-235

Department of Dermatology,State Key Laboratory of Complex Severe and Rare Diseases,PUMC Hospital,CAMS and PUMC, National Clinical Research Center for Dermatologic and Immunologic Diseases,Beijing 100730,China.

Objective To investigate the clinical characteristics and genetic mutations in Kindler syndrome(KS)and provide a theoretical basis for the diagnosis and treatment of KS. Methods The clinical data of one case of KS from Peking Union Medical College Hospital and 185 cases reported in literature were collected. The gene mutation types,patient clinical data,and tumor characteristics were statistically analyzed. Read More

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First report of the c.1676G>A homozygous variant in a family with Kindler syndrome.

Clin Exp Dermatol 2022 Jul 6;47(7):1421-1423. Epub 2022 Apr 6.

Medical Genetics, Konya City Hospital, Konya, Turkey.

Kindler syndrome (KS) was first described by Theresa Kindler in 1954, and since then > 60 pathogenic variants have been identified in the FERMT1 gene for KS. Most FERMT1 variants associated with KS are null variants. We present the case of a child with poikilodermic changes on the forehead and cheeks, who was found to have a homozygous c. Read More

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Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam.

Appl Clin Genet 2021 9;14:467-472. Epub 2021 Dec 9.

Faculty of Biology, VNU University of Science, Vietnam National University, Hanoi, 12108, Vietnam.

Background: Epidermolysis bullosa (EB) is a disorder characterized by the appearance of blisters, erosions and wounds in response to minimal trauma. The disease manifests with noticeable symptoms ranging from mild to severe, classified into four major types: epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB), dystrophic epidermolysis bullosa (DEB) and Kindler syndrome. Preimplantation genetic diagnosis for the disease remains the only available option for families at risk for the recurrence of the disorder without having to terminate an ongoing pregnancy. Read More

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December 2021

Syndactyly repair in Kindler syndrome.

J Dermatol 2022 Feb 17;49(2):e65-e66. Epub 2021 Nov 17.

Department of Dermatology, Osaka City University Graduate School of Medicine, Osaka, Japan.

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February 2022

Overview of complications associated with epidermolysis bullosa: A multicenter retrospective clinical analysis of 152 cases.

J Pediatr Surg 2021 Dec 5;56(12):2392-2398. Epub 2021 Jun 5.

King AbdulAziz University Hospital, Department of General Surgery, Saudi Arabia.

Background/purpose: Epidermolysis bullosa (EB) is a rare disease of skin and mucosa which may causes surgical complications. We review these in a large patient cohort from Saudi Arabia.

Methods: A retrospective study was conducted at 21 centers between 2003 and 2020. Read More

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December 2021

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

Exp Dermatol 2021 12 27;30(12):1724-1733. Epub 2021 Jun 27.

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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December 2021

Epidermolysis Bullosa: Pediatric Perspectives.

Curr Pediatr Rev 2022 ;18(3):182-190

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 (Engl Ed) 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 Nov 19;60(11):1343-1353. 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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November 2021

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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Epidermolysis bullosa in children: a retrospective study in a reference hospital.

Rev Med Inst Mex Seguro Soc 2020 09 1;58(5):583-592. Epub 2020 Sep 1.

Secretaría de Salud, Instituto Nacional de Pediatría, Servicio de Dermatología. Ciudad de México, México.

Background: Epidermolysis bullosa (EB) is a genodermatosis caused by mutations in the proteins of the dermal-epidermal junction, altering the epithelial cohesion, and generating blisters and shedding of skin and mucous membranes.

Objective: To describe the demographic and clinical characteristics, as well as the main complications of patients with EB attended at the National Institute of Pediatrics, in Mexico City.

Method: An observational, descriptive, retrospective and cross-sectional study was conducted in patients under 18 years of age with diagnosis of EB. Read More

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September 2020

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