1,328 results match your criteria: "Incontinentia Pigmenti"
Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study.
Orphanet J Rare Dis
December 2024
Department of Dermatology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 67, Aarhus N, 8200, Denmark.
Article Synopsis
- Incontinentia pigmenti (IP) is a rare X-linked dominant disorder linked to the IKBKG gene, and this study highlights the need for more research on its epidemiology in Denmark.
- A nationwide study identified 75 patients with IP, predominantly females, and estimated the birth prevalence at 2.37 per 100,000 live births, which is significantly higher than previous estimates.
- The study found that many patients exhibited typical skin lesions and other symptoms affecting teeth, the nervous system, hair, eyes, and nails, indicating a multisystem impact of the disorder.
Genome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmenti.
Br J Dermatol
November 2024
Genetics and Genome Biology Program, Peter Gilgan Centre for Research and Learning, Toronto, Ontario, Canada.
Skin Discoloration After Iatrogenic Fluorescein Dosing Error.
JAMA Ophthalmol
November 2024
Emergency Medicine/Toxicology, Boston Children's Hospital, Boston, Massachusetts.
Finding NEMO in the thymus.
J Exp Med
November 2024
Infection Immunity and Inflammation Research and Teaching Department, University College London Institute of Child Health, London, UK.
Rosain et al. (https://doi.org/10.
View Article and Find Full Text PDFMelanin Incontinence, Infantile Stroke, and Negative Genetics in a Case of Incontinentia Pigmenti.
Ann Indian Acad Neurol
September 2024
Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bengaluru, Karnataka, India.
Incontinentia pigmenti.
Semin Pediatr Neurol
October 2024
Children's Hospital Los Angeles, Division of Neurology, 46450 Sunset Blvd, MS#82, Los Angeles, CA 90027, USA. Electronic address:
Article Synopsis
- Incontinentia pigmenti (IP) is a rare genetic disorder mainly affecting females, characterized by evolving skin lesions and often leading to complications in various ectoderm-derived systems like the CNS, eyes, and teeth.
- The condition can result in serious neurological issues during infancy, such as strokes and chronic problems like epilepsy and intellectual disabilities.
- Recent advancements have improved the understanding of IP, aiding in diagnosis and management, with neurologists being crucial in the ongoing care of affected individuals.
Genetic principles related to neurocutaneous disorders.
Semin Pediatr Neurol
October 2024
The University of Texas at Austin, Dell Medical School, Department of Neurology, 1601 Trinity Street, Building B, Austin, TX 78712, USA; Dell Children's Medical Center, 4910 Mueller Blvd. Suite 300 Austin, TX 78723, USA. Electronic address:
Article Synopsis
- A deep understanding of genetics is essential for diagnosing and managing neurocutaneous disorders, as different inheritance patterns are key to identification.
- Autosomal dominant disorders (e.g., neurofibromatosis type 1) appear in every generation, while autosomal recessive disorders (e.g., ataxia-telangiectasia) often skip generations and require two mutated gene copies.
- X-linked disorders primarily affect males and can be lethal, while conditions like Sturge-Weber syndrome are somatic mosaic, affecting only specific cells, and germline mosaicism can present as new, unexplained autosomal dominant disorders in families.
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.
J Exp Med
November 2024
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Article Synopsis
- * A study examined 131 female patients with X-linked dominant incontinentia pigmenti (IP), finding that 36% produced autoantibodies against IFN-α and/or IFN-ω, significantly higher than age-matched controls.
- * The presence of these autoantibodies is linked to an abnormally small thymus and predisposes patients to life-threatening viral infections, while those without these autoantibodies do not face the same risk.
Intravenous fluorescein overdose in a child undergoing fluorescein angiography.
J AAPOS
October 2024
Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts. Electronic address:
Fluorescein angiography is a fluorescent dye-based imaging procedure, most commonly indicated in the pediatric setting to evaluate peripheral retinal vascular lesions. Fluorescein dye is organic, water soluble, and largely excreted renally, with a reassuring safety profile at therapeutic doses. While toxicity with intrathecal overdose has been reported, the effect of intravenous exposure to supratherapeutic levels has not been previously documented in the literature.
View Article and Find Full Text PDFOcular genetics in the Japanese population.
Jpn J Ophthalmol
September 2024
Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-ku, Hamamatsu city, Shizuoka, 431-3192, Japan.
Article Synopsis
- * Recent advancements in ocular genetics include identifying specific mutations, such as those in the EYS gene, which is often responsible for retinitis pigmentosa (RP), and exploring complex gene structures associated with other eye conditions.
- * Effective genome medicine relies on accurate patient diagnosis, understanding genetic patterns, and providing thorough genetic counseling, emphasizing the importance of clear communication between healthcare providers and patients regarding genetic diseases.
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.
J Clin Immunol
September 2024
Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany.
Article Synopsis
- The study examines a female carrier of a genetic mutation in the IKBKG gene, which is linked to conditions like ectodermal dysplasia and ectodermal dysplasia and immunodeficiency in males and incontinentia pigmenti (IP) in females, leading to a condition called NEMO-NDAS, characterized by autoinflammatory symptoms.
- Researchers used various techniques, including RT-PCR and nanopore sequencing, to analyze gene expression and protein levels in the patient and her mother compared to healthy controls.
- Findings revealed that the patient exhibited autoinflammatory symptoms without immunodeficiency, attributed to a non-skewed X-inactivation, alternative splicing of the IKBKG gene, and increased levels of
When Lines Tell You the Diagnosis - Incontinentia Pigmenti: What Else to Look For.
Neurol India
July 2024
Department of Diagnostic and Interventional Radiology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.
Pott's puffy tumor with intracranial extension in a child with incontinentia pigmenti: case based review of the eponymous disease.
Childs Nerv Syst
November 2024
Division of Pediatric Neurosurgery, Children's Hospital of Eastern Ontario (CHEO), Rm 3359, 401 Smyth Rd, Ottawa, ON, K1H 8L1, Canada.
Article Synopsis
- Pott's puffy tumor (PPT) is a rare infection of the frontal bone, posing serious neurological risks, and has been documented in cases involving immune dysfunction like Incontinentia pigmenti (IP).
- A literature review found 12 cases of PPT linked to immune issues, with diabetes and iatrogenic immunosuppression as common causes; surgical intervention is the primary treatment.
- PPT is increasingly recognized in patients with immune suppression, necessitating prompt and effective management to ensure better health outcomes.
Prevalence rates for ectodermal dysplasia syndromes.
Am J Med Genet A
December 2024
Department of Pediatrics, University of Missouri School of Medicine, Columbia, Missouri, USA.
Article Synopsis
- * The study aims to determine the period prevalence rates for common EDs using a large database of electronic health records, which provides more comprehensive data for understanding these rare disorders.
- * Researchers calculated prevalence rates for several EDs, revealing rates like 2.99 per 100,000 for hypohidrotic ectodermal dysplasia, indicating a significant but still low occurrence of these conditions.
This Month in JAAD Reviews: October 2024: A link between incontinentia pigmenti and squamous cell carcinoma.
J Am Acad Dermatol
October 2024
Department of Dermatology, Weill Cornell Medicine, New York, New York. Electronic address:
Case report: Variability in clinical manifestations within a family with incontinentia pigmenti.
Front Med (Lausanne)
July 2024
The branch of Hadassah Medical LTD, Moscow, Russia.
Article Synopsis
- Diagnosing skin diseases in children is complex, and Incontinentia pigmenti (IP) is a rare hereditary condition that can lead to serious complications like squamous cell carcinoma (SCC) in young patients.
- A case study involving a 10-year-old girl with IP highlights the importance of an interdisciplinary approach, with input from multiple specialists including dermatologists, geneticists, and oncologists.
- Genetic evaluations confirmed a mutation in the gene responsible for IP in the family, leading to successful treatment over a 2-year period, while also revealing varied symptoms among affected family members.
Gene therapy targeting the blood-brain barrier.
Vitam Horm
July 2024
Institute for Experimental and Clinical Pharmacology and Toxicology, Center of Brain, Behavior and Metabolism, University of Lübeck, Lübeck, Germany; DZHK (German Research Centre for Cardiovascular Research), Hamburg-Lübeck-Kiel, Germany. Electronic address:
Article Synopsis
- Endothelial cells create the blood-brain barrier (BBB), which protects the brain but makes it hard for some medicines to get in.
- Scientists are trying different ways to help treatments get across the BBB, like attaching drugs to special molecules that the barrier recognizes.
- Another idea is to make the drugs right inside the endothelial cells, since those cells are connected to the blood and can deliver the medicines directly to the brain.
Incontinentia pigmenti with cleft palate: A case report.
Asian J Surg
July 2024
Qingdao University Affiliated Qingdao Women and Childrens Hospital, China. Electronic address:
Incontinentia Pigmenti.
Indian Pediatr
August 2024
Department of Dermatology and STD, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi-110095, India
Whorled Scarring Alopecia: A Rare Cutaneous Finding in Incontinentia Pigmenti or Overlooked Phenomenon? A Case Report of Incontinentia Pigmenti with Trichoscopic and Dermoscopic Findings.
Acta Derm Venereol
June 2024
Department of Dermatology-Venereology and Allergology, Universitätsklinikum Schleswig-Holstein, Kiel, Germany.
A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.
Front Pediatr
May 2024
Department of Neonatology, Shenzhen Baoan Women's and Children's Hospital, Shenzhen, China.
Article Synopsis
- - The article discusses a rare case of neonatal incontinentia pigmenti that developed in one male monozygotic twin, who exhibited severe skin lesions and subsequent neurological issues.
- - The affected infant displayed multiple skin abnormalities, including yellow pustules and hyperpigmentation, alongside significant brain damage revealed by imaging tests, leading to poor health outcomes.
- - Genetic tests showed no common mutations in the parents, and the unaffected twin remained healthy, highlighting the complexity and rarity of this condition, as well as the need for better awareness and treatment approaches.
An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing.
NPJ Genom Med
May 2024
Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310006, P. R. China.
Article Synopsis
- A specialized sequencing method called single-tube long fragment read (stLFR) was successfully used to identify four pathogenic variants in IP patients, including three distinct frameshift mutations and one IKBKG deletion.
- This new genetic testing strategy not only helps differentiate between pathogenic variants and their non-pathogenic pseudogene counterparts, but also lays the groundwork for exploring other related genetic disorders.
NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections.
J Clin Immunol
May 2024
Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Central nervous system anomalies in 41 Chinese children incontinentia pigmenti.
BMC Neurosci
May 2024
Department of Emergency, Xi'an Children's Hospital (Xi'an Jiaotong University Affiliated Children's Hospital), No.69, Xiju Yuan Lane, Lianhu District, Xi'an, 86-710003, Shaanxi, People's Republic of China.
Article Synopsis
- Incontinentia pigmenti (IP) is a rare genetic condition caused by a defect in the IKBKG gene, linked to brain injury from microvascular ischemia, with few treatment options available for its inflammatory phase.
- A study analyzed data from 41 children with IP in Xi'an, China, focusing on clinical features, imaging, blood analysis, and genetics from 2007 to 2021.
- Results showed that early signs include neurological damage and significant MRI abnormalities, with many patients exhibiting high eosinophil and platelet counts, indicating microvascular damage in both skin and brain during the acute phase of the condition.*
Incontinentia Pigmenti: A Series of Six Cases with Isolated Cutaneous Involvement.
Indian Dermatol Online J
February 2024
Department of Dermatology, Venereology and Leprosy, Gandhi Medical College and Hospital, Secunderabad, Telangana, India.
Article Synopsis
- - Incontinentia pigmenti (IP) is a rare genetic disorder that's mainly found in females, characterized by skin lesions and potential complications in various body systems.
- - A study highlighted one male and five female infants who initially showed only skin-related symptoms of IP at diagnosis.
- - Early diagnosis is crucial for these patients to monitor and manage possible serious issues in other organ systems over time.