1,341 results match your criteria: "Ichthyosis Lamellar"
Congenital Bilateral Ectropion in Collodion Infants: A Case Series.
Cureus
November 2024
Ophthalmology, Regional Institute of Ophthalmology, Indira Gandhi Institute of Medical Sciences, Patna, Patna, IND.
Collodion baby is a rare congenital condition marked by a parchment-like membrane covering the body, often leading to complications such as bilateral ectropion. This condition poses risks of exposure keratopathy and other ocular issues. We present a case series of five infants with congenital bilateral ectropion associated with collodion babies, all born prematurely.
View Article and Find Full Text PDFTralokinumab and Acitretin for the Treatment of Lamellar Ichthyosis.
JAMA Dermatol
December 2024
Department of Dermatology, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.
A cellular disease model toward gene therapy of -dependent lamellar ichthyosis.
Mol Ther Methods Clin Dev
September 2024
Center for Regenerative Medicine "Stefano Ferrari", Department of Life Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Lamellar ichthyosis (LI) is a chronic disease, mostly caused by mutations in the gene, marked by impaired skin barrier formation. No definitive therapies are available, and current treatments aim at symptomatic relief. LI mouse models often fail to faithfully replicate the clinical and histopathological features of human skin conditions.
View Article and Find Full Text PDFAlopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis.
Int J Womens Dermatol
October 2024
Dermatology Department, Habib Thameur Hospital, Tunis, Tunisia.
Article Synopsis
- Autosomal recessive congenital ichthyosis (ARCI) is a rare skin condition primarily characterized by skin scaling and hair abnormalities, which are often overlooked regarding their impact on patients' quality of life.
- This study involved clinical and trichoscopic examinations of 30 ARCI patients over three years, revealing that alopecia affects a significant number, with various patterns of hair loss documented among participants.
- Notable trichoscopic findings included scaling and different hair types that correlate with the severity of ARCI, suggesting that hair health is a crucial component of this condition often underestimated in prior research.
Heterozygous DSP in-frame deletion in a poodle with syndromic ichthyosis involving additional hair and tooth abnormalities.
Anim Genet
October 2024
Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Article Synopsis
- Ichthyoses are a group of skin disorders that lead to dry, scaly skin, and a study was conducted on a miniature poodle showing these symptoms along with issues in teeth and hair.
- The condition was confirmed through histopathological examination, leading to a genetic investigation that identified a specific deletion in the DSP gene, which is important for cell adhesion in skin.
- The research suggests that this deletion likely disrupts protein connections, contributing to a new syndromic ichthyosis phenotype in the dog, similar to genetic issues observed in humans and cattle.
Development of Neutropenia in an Infant with Harlequin Ichthyosis on Acitretin Therapy: A Clinical Quandary.
Skinmed
August 2024
Department of Dermatology, Venereology and Leprology, B.J. Medical College and Civil Hospital, Ahmedabad, Gujarat, India.
Vitamin D Supplementation in Congenital Ichthyosis: A Case Series.
Adv Skin Wound Care
August 2024
Priyanka Hemrajani, MD (DVL), is Assistant Professor, Department of Dermatology, ESIPGIMSR, New Delhi, India. Mona Sharma, MD (DVL), is Senior Resident, Department of Dermatology, ESIPGIMSR, New Delhi, India. Sharath Kumar B.C., MD (DVL), is Professor and Head of Department, Department of Dermatology, Kempegowda Institute of Medical Sciences, Bangalore. Rajesh Somkuwar, MD (DVL), is Consultant Dermatologist, Al Salaam International Hospital, Kuwait.
Article Synopsis
- Ichthyosis is a genetic skin disorder leading to excessive scaling and thickened skin, which can hinder vitamin D production and lead to deficiencies.
- A study involving 25 patients with congenital ichthyosis and low vitamin D levels administered high doses of vitamin D3 and calcium, resulting in normal vitamin D levels for most patients.
- Participants reported significant improvements in skin symptoms and quality of life, suggesting vitamin D supplementation may help, but more extensive research is needed to confirm these results.
Autosomal Dominant Lamellar Ichthyosis Keeps Surprising Us.
J Invest Dermatol
December 2024
Department of Dermatology, University Hospital Münster, Münster, Germany. Electronic address:
Ponatinib-induced lamellar ichthyosis-like drug eruption.
Eur J Dermatol
April 2024
Department of Dermatology, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.
Confetti cure: reversing the genetic kaleidoscope of ichthyosis.
Br J Dermatol
August 2024
Institute of Human Genetics, Medical Center, University of Freiburg, Germany.
Assessing the Application of Large Language Models in Generating Dermatologic Patient Education Materials According to Reading Level: Qualitative Study.
JMIR Dermatol
May 2024
Section of Dermatology, University of Chicago Medical Center, Chicago, IL, United States.
Article Synopsis
- Dermatologic patient education materials often exceed a seventh- to eighth-grade reading level, prompting the study to evaluate large language models (LLMs) like ChatGPT and DermGPT for generating simpler content.
- The study focuses on generating patient education materials for both common and rare skin conditions at specified fifth- and seventh-grade reading levels while maintaining the original message.
- Results indicated that current materials have a higher average reading level (around 9.35 for common and 9.50 for rare conditions), and while LLMs produced PEMs at lower reading levels, consistency in meaning varied, with GPT-4 showing a stronger performance for fifth-grade content.
Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.
Mol Genet Genomic Med
May 2024
McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China.
Article Synopsis
- - *Ichthyosis is a diverse skin disorder with different types, notably autosomal recessive congenital ichthyosis (ARCI), which can cause various skin phenotypes, especially due to mutations in the ABCA12 gene.* - *A patient diagnosed with congenital ichthyosiform erythroderma (CIE) had two rare ABCA12 mutations identified, impacting mRNA splicing and protein integrity, which were linked to his condition through genetic analysis.* - *Findings from this study not only highlight the specific variants responsible for the patient’s phenotype but also enhance understanding of ABCA12-related disorders, aiding in future genetic counseling and prenatal diagnosis.*
Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1.
J Invest Dermatol
December 2024
Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, Freiburg, Germany. Electronic address:
Article Synopsis
- The study identified a new gene variant in NKPD1 linked to generalized lamellar ichthyosis among a family, enhancing the understanding of genetic factors in skin disorders.
- This variant was confirmed to segregate with the disease in affected individuals, providing strong genetic evidence for its involvement.
- Findings revealed NKPD1's potential role in skin lipid barrier formation and ceramide metabolism, differing from the previously known ASPRV1 association with autosomal dominant lamellar ichthyosis.
Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.
Dermatology
June 2024
Dermatology Unit and Genodermatosis Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Article Synopsis
- - Autosomal recessive congenital ichthyoses (ARCIs) are a group of skin disorders marked by scaling due to mutations in at least 12 different genes, with this study aiming to explore disease characteristics and their link to genetic factors.
- - The research involved 74 patients, primarily affected by lamellar ichthyosis and congenital ichthyosiform erythroderma, leading to the discovery of 25 new mutations and specific associations between mutations and clinical symptoms, such as alopecia and thick scales linked to particular gene mutations.
- - The findings highlighted that patients with mutations in TGM1 and ABCA12 had more severe symptoms compared to those with other mutations, while unique skin features were observed in NIPAL4-mut
Leukocytes containing lipid inclusions in congenital ichthyosis without classical Chanarin-Dorfman mutations.
Int J Dermatol
September 2024
Aix Marseille Univ, APHM, INSERM, MMG, La Timone Hospital, Cell Biology Department, Marseille, France.
Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.
Exp Dermatol
April 2024
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
Article Synopsis
- Autosomal recessive congenital ichthyoses (ARCI) is a genetic skin condition caused by mutations in at least 12 genes, primarily ABCA12, resulting in different types like congenital ichthyosiform erythroderma and lamellar ichthyosis.
- This study aimed to identify previously unknown pathogenic variants in ABCA12 and update the understanding of how these genetic changes affect patient symptoms.
- Researchers discovered 11 new ABCA12 variants and confirmed their impact through genetic sequencing, increasing the knowledge of disease severity and phenotypes associated with these genetic mutations in ichthyosis patients.
Article Synopsis
- - The study aims to enhance understanding of non-syndromic cleft lip with or without cleft palate (NSCL/P) by analyzing genetic data and identifying potential susceptibility genes.
- - Researchers conducted a genome-wide association study (GWAS) with 1,069 cases and 1,724 controls, discovering thirteen single nucleotide polymorphisms (SNPs) linked to NSCL/P risk, particularly emphasizing five active SNPs during early craniofacial development.
- - The findings highlight three critical susceptibility genes (NTN1, FGGY, LINC01135) that, when deficient, are associated with various facial abnormalities, enhancing the knowledge of genetic factors in NSCL/P.
Autosomal recessive gene and consecutive collodion baby.
BMJ Case Rep
March 2024
Obstetrics and Gynecology, GMCH, Chandigarh, India.
Article Synopsis
- Autosomal recessive congenital ichthyosis is a rare genetic disorder that affects skin keratinization, leading to issues like dryness and scaling.
- The overall prevalence for related conditions, such as lamellar ichthyosis and congenital ichthyosiform erythroderma, is about 1 in 200,000 to 300,000 people.
- The majority of mutations causing this condition are missense and frameshift mutations, making up 80% of cases; the patient mentioned has a mutation in the R-type arachidonate 12-lipoxygenase gene.
French national protocol for the management of congenital ichthyosis.
Ann Dermatol Venereol
March 2024
University Hospital Center of Toulouse, Reference Centre for Rare Skin Diseases, Department of Dermatology, Larrey Hospital, 24, Chemin de Pouvourville, TSA 30030 Toulouse Cedex 9, France. Electronic address:
Article Synopsis
- * CI significantly affects quality of life and typically requires ongoing treatment, as there is currently no cure, only options for managing symptoms.
- * The management protocol for CI, developed in line with 2012 guidelines from the French National Authority for Health, aims to provide clinicians with evidence-based recommendations for treating these rare conditions.
Ichthyosis: multinational European study on patient characteristics, involved body sites and impact on quality of life.
Br J Dermatol
April 2024
Patient Priority, EMMA, Paris, France.
Bathing Suit Ichthyosis.
Indian Pediatr
April 2024
University Tunis El Manar, Institut Pasteur de Tunis, Biomedical Genomics and Oncogenetics Laboratory LR20IPT05, Tunis, Tunisia.
A sustainable strategy for generating highly stable human skin equivalents based on fish collagen.
Biomater Adv
April 2024
A*STAR Skin Research Labs (A*SRL), Agency for Science, Technology and Research (A*STAR), Singapore; Skin Research Institute of Singapore (SRIS), Singapore. Electronic address:
Article Synopsis
- Tissue engineered skin equivalents (HSEs) offer alternatives to traditional skin models but often use costly mammalian collagen.
- This study introduces a method for creating stable HSEs using affordable fibrin fortified tilapia fish collagen, optimizing the formulation for effective skin cell incorporation and minimal contraction.
- The performance of the new HSEs is evaluated against commercial models, and a high throughput screening method is proposed using a 96-well format for easier testing.
In-person validation of the Ichthyosis Scoring System.
Pediatr Dermatol
March 2024
Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA.
Article Synopsis
- Ichthyoses are skin disorders marked by scaling and redness, leading to the creation of the Ichthyosis Scoring System (ISS) to quantify their severity effectively.
- A study involving 65 participants found that ISS had excellent reliability for scoring skin conditions, both through live evaluation and photographic images.
- The results indicate that ISS is a valid and reliable tool for assessing ichthyosis severity, making it suitable for clinical use and potentially a standard in the field.
Harlequin ichthyosis, prenatal diagnosis: the ultrasound recognition.
BMJ Case Rep
January 2024
Universidad El Bosque, Bogota, Colombia.
Article Synopsis
- * It is usually inherited in an autosomal recessive manner and is often diagnosed postnatally due to challenges in prenatal detection, though advances in genetic testing are improving early diagnosis.
- * In a case study, HI was diagnosed via ultrasound at 29 weeks of pregnancy, leading to parental counseling and the decision to terminate the pregnancy due to the high risk and potential for neonatal mortality.
New strategies for sterilization and preservation of fresh fish skin grafts.
Sci Rep
January 2024
Department of Physics, Faculty of Science, Assiut University, Assiut, 71516, Egypt.
The introduction of fish skin as a biological dressing for treating burns and wounds holds great promise, offering an alternative to existing management strategies. However, the risk of disease transmission is a significant concern. Therefore, this study aimed to examine how established sterilization and preservation procedures affected fish skin grafts' microbiological and histological properties for long-term usage.
View Article and Find Full Text PDF