1,240 results match your criteria Incontinentia Pigmenti


The Anesthetic Challenges of Caring for a Pediatric Patient With Incontinentia Pigmenti: A Case Report.

A A Pract 2021 Jan 19;15(1):e01384. Epub 2021 Jan 19.

From the Department of Anesthesiology, Rutgers New Jersey Medical School, Newark, New Jersey.

Incontinentia pigmenti (IP) is a rare X-linked dominant disorder. We present a case of an infant with IP who was brought to the operating room for panretinal diode photocoagulation under general anesthesia. The anesthesia team was unable to obtain intravenous access even with instruments such as a vein finder and ultrasound. Read More

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January 2021

Hyperpigmented Stage of Incontinentia Pigmenti.

Indian Dermatol Online J 2021 Mar-Apr;12(2):371-373. Epub 2020 Sep 28.

Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.

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September 2020

Incontinentia Pigmenti: Initial Presentation of Encephalopathy and Seizures.

Cutis 2021 Mar;107(3):E37-E39

Department of Dermatology, University of Wisconsin Hospital and Clinics, Madison.

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Development of dentofacial characteristics related to Incontinentia Pigmenti syndrome: A repeated cross-sectional study.

Am J Orthod Dentofacial Orthop 2021 Apr 24. Epub 2021 Apr 24.

Division of Dermatology, Department of Medical Clinic, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.

Introduction: This research aimed to investigate the dentofacial characteristics of patients with Incontinentia Pigmenti (IP) (or Bloch-Sulzberger) syndrome in childhood, juvenile, and adulthood developmental stages.

Methods: Fifteen female patients with a clinical diagnosis of IP, genetically confirmed by molecular testing, were included in this study. The records of 25 nonsyndromic females with Class I occlusion and lateral cephalograms obtained at similar developmental stages were selected from the American Association of Orthodontists Foundation Legacy Collection as a control group. Read More

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The predictive diagnostic value of the cytological findings in incontinentia pigmenti: a preliminary report.

Clin Exp Dermatol 2021 Mar 24. Epub 2021 Mar 24.

Department of Dermatology, Adana Dr Turgut Noyan Application and Research Center, Baskent University, Adana, Turkey.

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Interferon-β Therapy in a Patient with Incontinentia Pigmenti and Autoantibodies against Type I IFNs Infected with SARS-CoV-2.

J Clin Immunol 2021 Mar 25. Epub 2021 Mar 25.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, EU, France.

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Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene.

Exp Dermatol 2021 May 10;30(5):676-683. Epub 2021 Mar 10.

Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

Incontinentia pigmenti (IP) is a rare X-linked skin disease caused by mutations in the IKBKG gene, which is required for activation of the nuclear factor-kappa B signalling pathway. Multiple systems can be affected with highly variable phenotypic expressivity. We aimed to clarify the clinical characteristics observed in molecularly confirmed Korean IP patients. Read More

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Linear and whorled hyperpigmentation: A case of incontinentia pigmenti with dermoscopic features.

North Clin Istanb 2021 25;8(1):95-96. Epub 2020 Nov 25.

Department of Dermatology, Istanbul Medeniyet University, Faculty of Medicine, Istanbul, Turkey.

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November 2020

Immune transcriptomes of highly exposed SARS-CoV-2 asymptomatic seropositive versus seronegative individuals from the Ischgl community.

Sci Rep 2021 02 19;11(1):4243. Epub 2021 Feb 19.

Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, Bethesda, MD, 20892, USA.

SARS-CoV-2 infection ranges from asymptomatic to severe with lingering symptomatology in some. This prompted investigation of whether or not asymptomatic disease results in measurable immune activation post-infection. Immune activation following asymptomatic SARS-CoV-2 infection was characterized through a comparative investigation of the immune cell transcriptomes from 43 asymptomatic seropositive and 52 highly exposed seronegative individuals from the same community 4-6 weeks following a superspreading event. Read More

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February 2021

Child with a mild phenotype of Incontinentia Pigmenti and inner retinal dysfunction.

Doc Ophthalmol 2021 Feb 13. Epub 2021 Feb 13.

Department of Ophthalmology, Centro Hospitalar Universitário de São João, Avenida Prof. Hernâni Monteiro, 4202 - 451, Porto, Portugal.

Purpose: To describe a case of a child with mild phenotype of Incontinentia Pigmenti (IP), with changes in Spectral-Domain Optical Coherence Tomography (SD-OCT) and Optical Coherence Tomography Angiography (OCT-A) and an electronegative dark-adapted (DA) 3.0 electroretinogram (ERG), suggestive of inner retinal dysfunction.

Case Report: We described a 7-year-old female child with IP. Read More

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February 2021

The impact of disease and sociodemographic background on children suffering from cerebral palsy

Orv Hetil 2021 02 14;162(7):269-279. Epub 2021 Feb 14.

3 Pécsi Tudományegyetem, Általános Orvostudományi Kar, Gyermekgyógyászati Klinika, Pécs.

Összefoglaló. Bevezetés: A kutatócsoport 99 fő, cerebralis paresisben (CP) szenvedő gyermek (8-18 éves) önállóan közölt életminőségét értékelte, és az eredményeket összehasonlította egy 237 fős kontrollcsoport adataival, amelyek hasonló életkorú, egészséges általános populációhoz tartozó gyermekektől származtak. Célkitűzés: A kutatás célja annak megismerése volt, hogy a CP-ben szenvedő gyermekek hogyan vélekednek egészségi állapotukról és társadalmi helyzetükről. Read More

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February 2021

Late-onset cerebral arteriopathy in a patient with incontinentia pigmenti.

Brain Dev 2021 Apr 5;43(4):580-584. Epub 2021 Jan 5.

Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Japan.

Background: Incontinentia pigmenti (IP) is an X-linked neurocutaneous disorder that can present with cerebral arteriopathy during early infancy. However, no previous reports have demonstrated arteriopathic manifestations during postinfantile childhood in patients with IP.

Patient Description: We describe a case of IP in a 2-year-old girl who developed encephalopathic manifestations associated with influenza A infection. Read More

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The potential role of propranolol in incontinentia pigmenti.

Dermatol Ther 2021 01 10;34(1):e14737. Epub 2021 Jan 10.

Neonatal Intensive Care Unit, Medical Surgical Fetal-Neonatal Department, Meyer Children's University Hospital, Florence, Italy.

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January 2021

Neuroimaging in infants and children in select neurocutaneous disorders.

Clin Exp Dermatol 2021 Apr 12;46(3):438-443. Epub 2020 Nov 12.

Department of Dermatology, St Mary's Hospital, Portsmouth Hospitals NHS Trust, Portsmouth, UK.

The role of neuroimaging in neurocutaneous disorders is an evolving field. Research can be inconsistent and inconclusive, leading to divergent practice for some disorders. This study provides an overview of the current role of magnetic resonance imaging (MRI) of the brain in select neurocutaneous disorders, namely Sturge-Weber syndrome, congenital melanocytic naevus syndrome, neurofibromatosis type 1, tuberous sclerosis complex, incontinentia pigmenti and basal cell naevus syndrome. Read More

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Aggressive Cutaneous Squamous Cell Carcinoma as an Adult Manifestation of Incontinentia Pigmenti.

Dermatol Surg 2021 Jun;47(6):824-826

Department of Dermatology, University of Colorado School of Medicine, Aurora, Colorado.

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Co-occurrence of incontinentia pigmenti and down syndrome: examining patients' potential susceptibility to autoimmune disease, autoinflammatory disease, cancer, and significant ocular disease.

Ophthalmic Genet 2021 02 28;42(1):92-95. Epub 2020 Oct 28.

Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine , Richmond, Virginia, USA.

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February 2021

Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti.

Mol Genet Genomic Med 2020 12 21;8(12):e1531. Epub 2020 Oct 21.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.

Background: Incontinentia pigmenti (IP) is a rare X-linked disorder affecting the skin and other ectodermal tissues that is caused by mutation of the IKBKG/NEMO gene. Previous studies have reported that the overall mutation detection rate in IP is ~75%. We hypothesized that a low-level mosaicism existed in the remaining cases. Read More

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December 2020

Introduction to phacomatoses (neurocutaneous disorders) in childhood.

Childs Nerv Syst 2020 10 17;36(10):2229-2268. Epub 2020 Sep 17.

Pediatric Neurosurgery, International Neuroscience Institute [INI], Hanover, Germany.

The Dutch ophthalmologist, Jan van der Hoeve, first introduced the terms phakoma/phakomata (from the old Greek word "ϕαχοσ" = lentil, spot, lens-shaped) to define similar retinal lesions recorded in tuberous sclerosis (1920) and in neurofibromatosis (1923). He later applied this concept: (a) to similar lesions in other organs (e.g. Read More

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October 2020

Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism.

J Hum Genet 2021 Feb 9;66(2):205-214. Epub 2020 Sep 9.

Department of Photomedical Genomics, Institute of Medical Photonics Research, Preeminent Medical Photonics Education & Research Center, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis that is usually lethal in utero in males, though exceptionally they survive very rarely either with Klinefelter syndrome or a somatic mosaicism. We performed genomic analysis of five Japanese IP patients including a rare boy case, all of whom were definite cases with retinopathy. Four patients including the boy revealed the recurrent exon 4-10 deletion in the sole known causative gene IKBKG/NEMO, which was confirmed by various specific PCR techniques. Read More

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February 2021

Early laser photocoagulation for extensive retinal avascularity in infants with incontinentia pigmenti.

Jpn J Ophthalmol 2020 Nov 8;64(6):613-620. Epub 2020 Sep 8.

Laboratory for Visual Science, Department of Ophthalmology, National Center for Child Health and Development, 2-10-1 Okura Setagaya-ku, Tokyo, Japan.

Purpose: To describe the clinical features and treatment outcomes of severe retinopathy in eyes with incontinentia pigmenti (IP) of infants within a few months of birth.

Study Design: Retrospective clinical study.

Methods: Six eyes of three patients (6-day-old girl, 5-month-old girl, and 14-day-old boy) with IP were examined and treated under general anesthesia. Read More

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November 2020

Early management of sight threatening retinopathy in incontinentia pigmenti.

Orphanet J Rare Dis 2020 08 27;15(1):223. Epub 2020 Aug 27.

Ophthalmology Department and Rare Eye Disease Reference Center OPHTARA, Necker-Enfants malades University Hospital, AP-HP, Paris, France.

Background: Early blindness secondary to incurable retinal detachment is one of the main complications of incontinentia pigmenti (IP). The efficiency of ophthalmological management for preventing such evolution has not been proven. The objective of this retrospective study was to report a screening and treatment strategy of the vascular retinopathy in newborns and infants with IP. Read More

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Incontinentia Pigmenti: Homozygous twins with asymmetric ocular involvement.

J Fr Ophtalmol 2020 Oct 11;43(8):e289-e292. Epub 2020 Aug 11.

Ophthalmology department, Fondation Ophtalmologique A. de Rothschild, 29, rue Manin, 75019 Paris cedex 19, France.

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October 2020

Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti.

J Eur Acad Dermatol Venereol 2020 Jul;34(7):1415-1424

Department of Genetics, Imagine Institute, Necker Enfants Malades Hospital, Paris Centre Université, Paris, France.

Background: Incontinentia pigmenti (IP) is a rare multisystemic X-linked dominant genetic disorder characterized by highly diagnostic skin lesions. The disease can be misdiagnosed in infants, and complications affecting the eyes and/or the brain can be severe. Our objective was to highlight the urgency of an appropriate diagnosis and management strategy, as soon as the first symptoms appear, and the need for a well-codified monitoring strategy for each child. Read More

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Incontinentia pigmenti: multisistemic genodermatosis.

Bol Med Hosp Infant Mex 2020 ;77(3):112-118

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

Incontinentia pigmenti is an X-linked genodermatosis generally lethal in males; thus, it presents almost exclusively in females. It is caused by a loss-of-function mutation in the IKBKG (inhibitor of kappa polypeptide gene enhancer in B cells, kinase gamma) gene that prevents the NFкβ (nuclear factor kappa-light-chain-enhancer of activated B cells) protein from migrating to the nucleus to begin the transcription of factors that amplify the immune response and prevent apoptosis. Consequently, mutant cells become vulnerable to apoptosis when exposed to cytokines and, in turn, lead to vaso-occlusion and ischemia of tissues, such as the skin, the central nervous system and the retina. Read More

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January 2020

Dermatoscopic features of incontinentia pigmenti.

Indian J Dermatol Venereol Leprol 2020 Jul-Aug;86(4):422-424

Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

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Linear crusted papules in an infant.

JAAD Case Rep 2020 May 30;6(5):441-443. Epub 2020 Apr 30.

Apex Dermatology and Skin Surgery Center, Mayfield Heights, Ohio.

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Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature.

J Neurosci Rural Pract 2020 Apr 4;11(2):325-328. Epub 2020 Apr 4.

Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

Incontinentia pigmenti (IP) or Bloch-Sulzberger's disease is a rare neurocutaneous syndrome with dermatological, neurologic, and systemic manifestations including retinal, dental and hair abnormalities. It follows X-linked dominant inheritance and predominantly affects female children. The characteristic evolution of skin lesions in four stages is a hallmark diagnostic feature of the disease. Read More

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