794 results match your criteria: "Ichthyosis X-Linked"
Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergol Select
October 2024
Center for Child and Adolescent Health, Helios Hospital Krefeld, Academic Hospital of RWTH Aachen, Krefeld.
Article Synopsis
- Primary atopic disorders (PAD) are rare genetic conditions caused by specific gene variants that affect skin and immune function, making diagnosis challenging among common allergic disease cases.
- Identifying PAD requires recognizing clinical red flags like family history and unusual infections, as conventional lab tests are inadequate for definitive diagnosis.
- Whole-genome sequencing (WGS) enhances diagnostic efficiency and accuracy, but requires careful interpretation and collaboration among specialists to effectively manage PAD cases.
Article Synopsis
- X-linked ichthyosis is a genetic skin condition characterized by dry, scaly skin caused by a mutation in the steroid sulfatase gene.
- Patients with this condition face specific challenges during surgery, requiring careful multidisciplinary management and attention from anesthesiologists.
- A case study highlights a 6-year-old boy with X-linked ichthyosis who successfully underwent surgery for undescended testis, emphasizing the need for thorough planning and careful anesthetic techniques during the procedure.
Revisiting X-linked congenital ichthyosis.
Int J Dermatol
July 2024
Department of Pathology, School of Medicine, Hunan Normal University, Changsha, People's Republic of China.
Article Synopsis
- X-linked recessive ichthyosis (XLI) is a hereditary skin condition that leads to dry, scaling skin and can have other health impacts, primarily affecting males with a prevalence of 1 in 6,000 to 1 in 2,000.
- The condition is caused by mutations in the steroid sulfatase gene (STS) located on the X chromosome, leading to the buildup of cholesterol sulfate in the skin, which disrupts its protective barrier.
- The review covers XLI's genetic, clinical, and pathological details, along with its diagnosis, treatment options, and the potential for improved clinical diagnosis and prenatal testing through understanding STS gene variants.
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Biomedicines
May 2024
CEINGE Advanced Biotechnologies Franco Salvatore, 80145 Naples, Italy.
Article Synopsis
- * Researchers found that 8 patients had autosomal recessive ichthyosis, while others had X-linked ichthyosis, with a total of 24 disease-causing alleles identified, including 8 novel variants.
- * The findings help enhance early diagnosis and classification of ichthyosis patients, broadening the understanding of the genetic and phenotypic diversity of inherited ichthyosis disorders.
Memory, mood and associated neuroanatomy in individuals with steroid sulphatase deficiency (X-linked ichthyosis).
Genes Brain Behav
June 2024
School of Psychology, Cardiff University, Cardiff, UK.
Article Synopsis
- Steroid sulphatase (STS) is linked to mood and cognitive decline, and its deficiency in humans has unclear effects on memory.
- In a study involving adult males with STS deficiency due to X-linked ichthyosis (XLI) and female carriers, poorer memory performance and increased mood disturbances were observed compared to control groups.
- Neuroanatomical differences were minimal, indicating that while STS deficiency may impair memory, it operates independently of mood and does not substantially alter brain structures.
Hyperkeratotic Nodule on the Knee in a Patient With KID Syndrome.
Cutis
March 2024
Peichi Chou is from the School of Medicine, University of California, Riverside. Drs. Lee and Elsensohn are from the Department of Dermatology, Loma Linda University, California.
Cardiac arrhythmia in individuals with steroid sulfatase deficiency (X-linked ichthyosis): candidate anatomical and biochemical pathways.
Essays Biochem
December 2024
School of Psychology, Cardiff University, Cardiff, U.K.
Article Synopsis
- - Circulating steroids, particularly sex hormones, influence heart development and function, and an important enzyme called steroid sulfatase (STS) plays a crucial role in modifying these steroids.
- - Genetic deletions or variants associated with the STS enzyme can significantly increase the likelihood of experiencing cardiac arrhythmias, especially atrial fibrillation/flutter.
- - The link between STS activity and structural heart abnormalities, like septal defects, suggests the need for further research into the mechanisms driving this relationship and its potential clinical consequences.
The Rare Presence of Two Genetic Disorders (Neurofibromatosis 1 and X-Linked Recessive Ichthyosis) in a Single Patient.
Indian J Dermatol
January 2024
From the Department of Dermatology, All India Institute of Medical Sciences, Bathinda, Punjab, India E-mail:
Evaluating the challenges and needs of parents caring for children with Williams syndrome: A preliminary study from Poland.
Res Dev Disabil
February 2024
Department of Organization and Management in Health Care, Poznan University of Medical Sciences, Poznań, Poland.
Article Synopsis
- A study in Poland explored the experiences of 32 caregivers of children with Williams syndrome (WS), revealing significant challenges they face in daily life.
- Caregivers reported issues such as managing their child's behaviors and health, leading to fatigue, mental health decline, and difficulties in personal relationships.
- Despite acknowledging positive aspects of raising a WS child, many parents experienced role overload and a lack of support from the healthcare system, impacting their overall well-being and social life.
Congenital Ichthyosis: Current Approaches to Prenatal Diagnoses.
Fetal Pediatr Pathol
April 2024
Princess Al-Jawhara Center for Molecular Medicine and Inherited Disorders & Department of Molecular Medicine, Arabian Gulf University, Manama, Kingdom of Bahrain.
Article Synopsis
- Congenital ichthyosis encompasses various skin disorders, and this article focuses on prenatal testing options for these conditions.
- The researchers identified 408 publications related to 13 types of ichthyosis and four testing methods through a comprehensive search.
- While biochemical tests are effective for some ichthyosis types, they often require invasive procedures, making noninvasive imaging techniques more favorable, despite their limitations.
Unraveling the molecular mechanisms of cell migration impairment and apoptosis associated with steroid sulfatase deficiency: Implications for X-linked ichthyosis.
Biochim Biophys Acta Mol Basis Dis
March 2024
College of Pharmacy and Center for Metareceptome Research, Chung-Ang University, Seoul 06974, Republic of Korea. Electronic address:
Steroid sulfatase (STS) deficiency is responsible for X-linked ichthyosis (XLI), a genetic disorder characterized by rough and dry skin caused by excessive keratinization. The impaired keratinization process leads to reduced cell mobility and increased apoptosis, which can cause an excessive buildup of the stratum corneum. In this study, we investigated the mechanisms underlying XLI and found that STS deficiency reduces cell mobility and increases apoptosis in human keratinocyte HaCaT cells.
View Article and Find Full Text PDFFilaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR).
J Clin Immunol
January 2024
School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, Australia.
Article Synopsis
- X-linked reticular pigmentary disorder (XLPDR) is a rare genetic condition that leads to skin hyperpigmentation, multi-organ inflammation, and immune issues, primarily linked to a specific variant in the POLA1 gene on the X chromosome.
- A case study of a 9-year-old boy revealed symptoms such as eczema, recurrent infections, and growth failure, but he showed improvement in some symptoms over time without treatment.
- Whole-genome sequencing confirmed the diagnosis of XLPDR and identified another variant linked to skin issues, with elevated type 1 interferon activity indicating immune dysfunction in the patient compared to healthy individuals.
Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report.
Clin Cosmet Investig Dermatol
December 2023
Dermatology Department, College of Medicine, King Faisal University, Al-Hofuf, Saudi Arabia.
Article Synopsis
- Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare genetic disorder that results in a combination of skin problems, hair loss, and sensitivity to light.
- An 8-year-old boy exhibited symptoms like hair loss on his scalp, eyebrows, and eyelashes, alongside dry skin, light sensitivity, and recurring lip inflammation, with genetic testing confirming the condition.
- This case, the first identified in Saudi Arabia, highlights the unique features of IFAP syndrome and differentiates it from other similar disorders.
Clinicopathologic and trichoscopic features of keratosis follicularis spinulosa decalvans: A case series study.
J Dermatol
February 2024
Department of Dermatopathology, Hospital for Skin Diseases and Institute of Dermatology, Chinese Academy of Medical Sciences & Peking Union Medical College Nanjing, Jiangsu, China.
Article Synopsis
- Keratosis follicularis spinulosa decalvans (KFSD) is a rare hereditary disorder marked by excessive skin cell production in hair follicles, light sensitivity, and hair loss, with challenging diagnosis due to diverse clinical presentations.
- A study evaluated eight patients from seven families, where alopecia typically began around 21.25 years old, mainly affecting scalp hair with scarring and inflammation, alongside hyperkeratosis of vellus hairs in all cases.
- Histological examination showed significant changes in hair follicles, including inflammation and follicular obstruction, while trichoscopic examination revealed specific features like scaling and tufted hairs, indicating that abnormalities in hair follicles are key to understanding the disease.
X-linked genodermatoses from diagnosis to tailored therapy.
Clin Ter
November 2023
MAGI's LAB, Rovereto, Italy.
Article Synopsis
- Genodermatoses are rare genetic skin disorders that can severely affect an individual's health and may result in early mortality due to their multiorgan involvement.* -
- A systematic review of the literature focused on X-linked genodermatoses in pediatric males highlighted key conditions grouped by keratinization, pigmentation, and inflammatory issues, providing examples like dyskeratosis congenita and ichthyosis.* -
- The review emphasizes the significance of genetic diagnosis and outlines the current landscape of clinical trials involving orphan drugs and gene therapy for these disorders, linking clinical assessments to molecular testing.*
and Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review.
Genes (Basel)
October 2023
Department of Pediatrics, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Republic of Korea.
Article Synopsis
- - X-linked recessive ichthyosis (XLI) is a genetic skin condition marked by dark brown, dry skin and polygonal scales, as seen in a 9-month-old infant and several family members.
- - Genetic analysis identified a significant deletion on chromosome Xp22, affecting the gene associated with XLI, confirmed through multiplex ligation-dependent probe amplification (MLPA).
- - The study highlights the necessity for advanced genetic screening methods like CNV analysis and MLPA to accurately diagnose individuals suspected of having XLI.
Investigation of (Epi)genetic causes in syndromic short children born small for gestational age.
Eur J Med Genet
November 2023
Department of Pediatric Endocrinology, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey.
Article Synopsis
- The study focused on identifying (epi)genetic factors in children born small for gestational age (SGA) experiencing undiagnosed syndromic short stature, involving 29 selected cases from a syndromic SGA cohort.
- Advanced genetic analysis techniques like chromosomal microarray and whole exome sequencing were used, leading to the detection of pathogenic variants and uniparental disomy in several patients.
- The findings revealed a 55.2% diagnosis rate, introduced 15 rare syndromes linked to SGA, and identified novel genes and copy number variants (CNVs), highlighting the complexity and diversity of syndromic short stature.
Dual clinical features of fine and rough scales seen in a combined ichthyosis vulgaris and X-linked recessive ichthyosis patient with atopic dermatitis.
J Dermatol
February 2024
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
RNA sequencing and lipidomics uncovers novel pathomechanisms in recessive X-linked ichthyosis.
Front Mol Biosci
June 2023
Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
Article Synopsis
- Recessive X-linked ichthyosis (RXLI) is a genetic disorder linked to mutations in the steroid sulfatase gene, leading to skin issues and potential non-skin effects like corneal opacity and ADHD.
- Researchers sequenced the transcriptome of keratinocytes with reduced steroid sulfatase to explore RXLI's underlying mechanisms, finding major reductions in genes related to skin development and lipid metabolism.
- The findings reveal connections between gene expression changes and the disorder's features, enhancing our understanding of RXLI and its cutaneous and extracutaneous symptoms.
Case report: Sex-specific characteristics of epilepsy phenotypes associated with Xp22.31 deletion: a case report and review.
Front Genet
June 2023
Department of Pediatrics, Second Affiliated Hospital of Shantou University Medical College, Shantou, China.
Article Synopsis
- The study investigates the role of deletions in the Xp22.31 genomic region related to epilepsy, revealing a case in a Chinese family with siblings showing focal epilepsy and language delays due to a specific microdeletion.
- An extensive literature review identified 25 additional patients, highlighting sex-stratified differences: males often have easily controlled epilepsy with ichthyosis, while females tend to experience earlier-onset, more severe epilepsy.
- The research improves understanding of X-linked recessive epilepsy's genetic and clinical characteristics in the Chinese population, emphasizing the distinct epilepsy features associated with Xp22.31 deletions in males and females.
Percutaneous Bone-Anchored Hearing Implant Surgery: Do Syndromic Children Have More Adverse Perioperative Outcomes?
Otol Neurotol
August 2023
Department of Otolaryngology-Head and Neck Surgery, McGill University, The Montreal Children's Hospital, Montreal, Quebec, Canada.
Article Synopsis
- The study aimed to assess the outcomes of percutaneous bone-anchored hearing implant (BAHI) surgery in children with syndromic versus nonsyndromic conditions over a span of 13 years.
- Researchers found that syndromic patients generally faced more complications, such as higher ASA scores, implant extrusions, and severe skin reactions post-surgery compared to nonsyndromic patients.
- Despite these challenges, the overall stability of the implants was similar between the two groups, suggesting BAHI surgery remains a viable option for syndromic patients, albeit with added risks.
The impact of parental psychological distress on child behavior issues in hospitalized children.
Pediatr Med Chir
June 2023
Department of Pediatric Nursing, Faculty of Nursing, Universitas Indonesia, Depok.
Article Synopsis
- Child hospitalization adversely affects the psychological well-being of both children and their parents, indicating a need for better support for families in medical settings.
- This study, conducted with 156 parents in Indonesian pediatric wards, aimed to explore the relationship between parental psychological distress and child behavior problems.
- Results showed that parental anxiety significantly predicted various behavior issues in hospitalized children, while parental depression did not appear to influence these behaviors, highlighting the importance of addressing parental anxiety to mitigate child behavior complications during hospitalization.*
Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel variant in Osteogenesis imperfecta.
Front Endocrinol (Lausanne)
June 2023
Connective Tissue Unit, Division of Metabolism and Children's Research Center, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.
Article Synopsis
- * The first X-linked recessive form of OI was identified in 2016 and involves mutations in a gene encoding a protease that influences various biological processes, including bone health and lipid metabolism.
- * Researchers found distinct gene expression patterns in fibroblasts from OI patients, indicating differences in fatty acid metabolism and collagen production, which may help assess the impact of new genetic variants on the severity of OI.
Identification of a novel partial deletion of associated with pre-Descemet corneal dystrophy and X-linked ichthyosis.
Mol Vis
June 2023
Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA.
Article Synopsis
- The study investigates Pre-Descemet corneal dystrophy (PDCD) associated with X-linked ichthyosis (XLI), focusing on its genetic basis in two previously unreported families with affected individuals.
- Clinical examinations revealed specific corneal opacities and skin symptoms typical of XLI, while genetic testing identified both complete and partial deletions of the steroid sulfatase gene on the X chromosome in the affected individuals.
- The findings suggest that regardless of the genetic variant (point mutations or deletions), there is no significant difference in the phenotype of PDCD associated with XLI, indicating that all variants likely lead to a loss of function of the steroid sulfatase gene.