249 results match your criteria: "Kindler Syndrome"
Economic burden and health-related quality of life in patients with epidermolysis bullosa in Spain.
Orphanet J Rare Dis
September 2024
Faculty of Health Sciences, University of Castilla-La Mancha, Talavera de la Reina, 45600, Spain.
Article Synopsis
- - The study analyzes the economic burden and health-related quality of life (HRQoL) of epidermolysis bullosa (EB) patients in Spain, highlighting the financial impact on both patients and society.
- - With an average annual cost of €31,352 per patient, the costs consist mainly of non-healthcare expenses (71.3%), healthcare costs (17.2%), and productivity losses (11.5%).
- - HRQoL scores indicate a significant impact, with severe EB patients scoring lower (0.45) than non-severe situations (0.62), underlining the importance of considering both direct and indirect costs in healthcare policies.
Identification of a novel variant causing kindler syndrome and a review of the clinical and molecular genetic features in Chinese patients.
Front Pediatr
September 2024
Laboratory of Genetic Metabolism Center, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Article Synopsis
- Kindler Syndrome (KS) is a rare genetic condition that causes problems like fragile skin, blisters, and sensitivity to sunlight due to issues with a specific gene.
- This study focuses on a new genetic variant found in a Chinese patient and looks at how KS shows up in other people in China.
- Researchers used advanced DNA testing and reviewed past cases, finding that almost all patients had skin problems, and many also had issues with their nails, fingers, mouth, eyes, and digestion.
Unusual oral manifestation of Kindler syndrome: a case report and review of literature.
Front Oral Health
September 2024
Department of Oral and Maxillofacial Surgery, A B Shetty Memorial Institute of Dental Sciences, Nitte (Deemed to be University), Deralakatte, India.
Article Synopsis
- Kindler syndrome (KS) is a rare skin condition that starts in babies and causes painful blisters, unusual skin color changes, and sensitivity to sunlight as they get older.
- It happens because of a problem with a protein called kindlin-1, which helps skin cells stick together and move properly.
- People with KS can have issues with their mouths that are often missed or treated wrong, and having diabetes can make these problems worse, leading to bigger challenges with healing and skin issues.
Orofacial Manifestations of Kindler Epidermolysis Bullosa.
JAMA Dermatol
October 2024
Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
Orofacial Manifestations of Kindler Epidermolysis Bullosa-Reply.
JAMA Dermatol
October 2024
Department of Dermatology, Medical Faculty and Medical Center, University of Freiburg, Freiburg, Germany.
Involvement of Kindlin-1 in cutaneous squamous cell carcinoma.
Oncogenesis
July 2024
Edinburgh Cancer Research, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XR, UK.
Article Synopsis
- Kindler syndrome (KS) is a rare skin disorder caused by mutations in the FERMT1 gene, leading to a higher risk of aggressive skin cancer, specifically cutaneous squamous cell carcinoma (cSCC).
- Research shows that FERMT1 levels are elevated in precancerous skin lesions (actinic keratoses) and further in cSCC, suggesting a role in promoting tumor growth.
- Loss of Kindlin-1 results in enhanced cSCC invasion and tumor growth due to a hypoxic environment and increased glycolysis, with MMP13 playing a key role in increasing the invasive capabilities of these cancer cells.
Dermoscopic Correlation of an Eccentric Case of Kindler Syndrome.
Cureus
April 2024
Dermatology, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth, Pune, IND.
Article Synopsis
- - Kindler syndrome (KS) is a rare genetic skin disorder caused by mutations in the FERMT1 gene, leading to blistering, epidermal atrophy, increased cancer risk, and poor wound healing.
- - A 20-something male patient experienced symptoms like hyper-hypopigmentation, facial poikiloderma, thin wrinkled skin, and childhood blistering that left atrophic scars.
- - The study aims to link clinical findings with dermoscopy, highlighting its effectiveness in diagnosing KS through the identification of key features like poikiloderma and unique scar types.
Battling a rarity: A case of kindler syndrome from a developing country.
SAGE Open Med Case Rep
February 2024
Dow University of Health Sciences, Karachi, Pakistan.
Article Synopsis
- Kindler syndrome is a rare genetic condition under the umbrella of epidermolysis bullosa, marked by painful blisters and skin issues starting in infancy.
- Over time, these blisters decrease, but the skin becomes scarred and shows unique changes.
- The report highlights a case from Pakistan, emphasizing how clinical diagnosis can be effective in places with limited resources, even when genetic testing isn't accessible.
Kindler syndrome with a novel mutation and gynaecological complication.
Clin Exp Dermatol
February 2024
Scientific Affairs Team, MedGenome Laboratory, Bengaluru, India.
Kindler Syndrome Presenting as Colitis in an Infant.
Cureus
August 2023
Internal Medicine, Al-Makassed Charitable Society Hospital, Jerusalem, PSE.
Article Synopsis
- Kindler syndrome (KS) is a skin condition that causes problems like thin skin, blisters, and sensitivity to sunlight.
- A baby girl with KS showed serious health issues, like not gaining weight and having diarrhea, along with unique symptoms like cysts on her foot.
- Scientists found a gene change that causes KS, and they want to study more about how it affects other parts of the body, especially the baby's severe intestinal problems.
Epidermolysis Bullosa-A Kindler Syndrome Case Report and Short Literature Review.
Clin Pract
July 2023
Clinical Medical Department, Faculty of Medicine and Pharmacy, "Dunărea de Jos" University, 800008 Galați, Romania.
Article Synopsis
- Epidermolysis bullosa (EB) is a rare genetic disorder leading to skin fragility and blistering, classified into four main types based on where the skin separates.* -
- A case study presented a newborn with EB, born without family history, showing severe skin damage and other complications, highlighting challenges in prenatal diagnosis due to the disease's genetic variability.* -
- Though the newborn had good short-term recovery, EB can cause serious long-term health issues due to infections and other complications associated with its symptoms.*
Genetic Diagnosis of Kindler Syndrome, a Rare form of Genodermatosis in a Newborn with Identification of a Nonsense Mutation, c. 328C > T, in the FERMT1 Gene in the Indian Population.
Indian J Dermatol
January 2023
From the Department of Molecular Genetics, GeneTech, Hyderabad, India E-mail:
Kindler syndrome: a rare case report from Syria.
Ann Med Surg (Lond)
May 2023
Departments of Dermatology.
Article Synopsis
- Kindler syndrome is a rare genetic condition that is inherited in an autosomal recessive manner.
- A new case is presented involving a 13-year-old Syrian boy showing unusual symptoms, specifically lanugo hair, which hasn't been documented before.
- The syndrome typically features skin blistering, skin thinning, sensitivity to sunlight, and various mucosal issues; specific clinical diagnostic criteria are noted for cases where genetic testing isn't an option.
Molecular genetic basis of epidermolysis bullosa.
Vavilovskii Zhurnal Genet Selektsii
March 2023
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.
Article Synopsis
- Epidermolysis bullosa (EB) is a heritable skin disorder characterized by fragile skin that results in blisters and wounds due to genetic mutations affecting skin integrity.
- * There are over 30 clinical subtypes of EB, categorized mainly into four types, with severity ranging from mild to life-threatening based on specific genetic mutations.
- * Accurate diagnosis relies on correlating clinical observations with genetic and immunohistological data, which helps understand the disease’s natural history and develop better treatments.
Article Synopsis
- Patients with a skin condition called epidermolysis bullosa (EB) often have problems with their nails because of issues with the skin beneath them.
- A study looked at 36 articles about nail problems in 74 individuals with EB, finding that most had severe nail issues, like missing nails.
- The study showed that missing nails (anonychia) were more common in people with severe forms of EB and that more research is needed to understand how nail problems relate to the overall health of these patients.
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.
Eur J Hum Genet
July 2023
UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.
Article Synopsis
- * Analyzed exome sequencing data from over 3,200 individuals with developmental/neurological issues using the MELT tool to identify MEIs, resulting in two significant findings linked to specific conditions.
- * The study suggests that integrating MEI detection into exome sequencing could enhance diagnosis rates for genetic disorders, indicating its potential as a standalone diagnostic tool.
Ocular manifestations in Kindler syndrome.
Indian J Ophthalmol
July 2022
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Article Synopsis
- The study investigates the long-term eye-related complications of Kindler syndrome, focusing on cases treated at a specialized eye clinic.
- Three patients with varying issues, including severe dry eye and corneal damage, were reviewed, highlighting specific symptoms for each case.
- Treatment involved the use of topical lubricants, low-potency steroids, and immuno-modulators, emphasizing the importance of monitoring eye health alongside other symptoms to prevent lasting damage.
Urological Manifestations of Kindler Syndrome: A Case Report.
Cureus
May 2022
Urology, All India Institute of Medical Sciences, Rishikesh, IND.
Article Synopsis
- - Kindler syndrome is a rare genetic skin condition caused by a mutation in the kindlin-1 gene, which affects skin cell functions like adhesion and growth.
- - Symptoms include skin blistering, sensitivity to sunlight, and changes in skin appearance, along with potential issues in the genitourinary system.
- - Diagnosis typically involves a skin biopsy and genetic testing, while treatment focuses on genetic counseling and a team-based medical approach.
[Clinical Characteristics and Gene Mutations in 186 Cases of Kindler Syndrome].
Zhongguo Yi Xue Ke Xue Yuan Xue Bao
April 2022
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.
Article Synopsis
- The study aims to analyze the clinical features and genetic mutations associated with Kindler syndrome (KS) to improve diagnosis and treatment approaches.
- Researchers compiled data from one new case and 185 previously reported cases, noting key clinical symptoms like blistering, photosensitivity, and complications, as well as genetic mutations related to the condition.
- The most common mutation found was c.676C>T in the FERMT1 gene, and KS patients are particularly at risk for developing squamous cell carcinoma, especially in areas frequently exposed to sunlight, such as the hands and mouth.
First report of the c.1676G>A homozygous variant in a family with Kindler syndrome.
Clin Exp Dermatol
July 2022
Medical Genetics, Konya City Hospital, Konya, Turkey.
Article Synopsis
- Kindler syndrome (KS) was first identified in 1954 and is linked to over 60 genetic variants in the FERMT1 gene, primarily involving null variants.
- The case discussed involves a child with specific skin changes who has a unique homozygous mutation (c.1676G>A) in the FERMT1 gene.
- This report is the first to document this particular mutation in a family affected by Kindler syndrome.
Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam.
Appl Clin Genet
December 2021
Faculty of Biology, VNU University of Science, Vietnam National University, Hanoi, 12108, Vietnam.
Article Synopsis
- Epidermolysis bullosa (EB) is a genetic disorder that causes blisters and wounds due to minor injuries, with four main types categorized by severity.
- A new method was developed to identify specific mutations in EB using PCR and Sanger sequencing, allowing for screening of IVF embryos for genetic abnormalities.
- The process successfully detected mutations in 66.6% of tested embryos, helping families at risk to select healthy embryos for transfer.
Syndactyly repair in Kindler syndrome.
J Dermatol
February 2022
Department of Dermatology, Osaka City University Graduate School of Medicine, Osaka, Japan.
Overview of complications associated with epidermolysis bullosa: A multicenter retrospective clinical analysis of 152 cases.
J Pediatr Surg
December 2021
King AbdulAziz University Hospital, Department of General Surgery, Saudi Arabia.
Article Synopsis
- Epidermolysis bullosa (EB) is a rare skin condition that leads to surgical complications, and a study was conducted to review these issues in a cohort of patients from Saudi Arabia.
- The research involved a retrospective analysis of 152 children with different types of EB (EBS, DEB, JEB) and highlighted various complications, including higher risks of skin cancer and esophageal strictures in DEB and JEB patients.
- The findings emphasize the importance of surgeons in managing EB-related complications, and recognizing specific EB subtypes can help predict treatment outcomes.
Immunological mechanisms underlying progression of chronic wounds in recessive dystrophic epidermolysis bullosa.
Exp Dermatol
December 2021
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
Article Synopsis
- Hereditary epidermolysis bullosa (EB) is a skin disorder that makes the skin very fragile, causing painful blisters when it gets hurt.
- There are different types of EB, but there's no cure, and people with a certain type (RDEB) have painful sores that don't heal well and can get infected.
- To help RDEB patients feel better, scientists need to understand how their body responds to infections and what goes wrong with their immune system when they have these chronic wounds.