Results 71 to 80 of about 2,494 (91)

Bloch–Sulzberger syndrome (Incontinentia pigmenti)

Russian Journal of Skin and Venereal Diseases, 2023
Bloch–Sulzberger syndrome or Incontinentia pigmenti is a genetic disease that causes skin pathology in the first days of a child's life and is suspected of identifying the disease.
S. N. Shchava, Marina A. Shishkina
semanticscholar   +1 more source

An atypical case of incontinentia pigmenti with a hypomorphic variant

Pediatric dermatology, 2023
Incontinentia pigmenti (IP) is a rare X‐linked dominant genodermatosis that affects skin, hair, teeth, eyes and central nervous system. We present the case of a female patient with mild IP caused by a hypomorphic pathogenic variant of the inhibitor of ...
Youming Guo, Wenbo Bu, Weixue Jia, Yuanyuan Zhang, Chengrang Li   +4 more
semanticscholar   +1 more source

Incontinentia pigmenti and the eye

Current Opinion in Ophthalmology, 2022
Purpose of Review: Incontinentia pigmenti (IP) is a rare X-linked dominant phakomatosis that predominately presents with dermatologic manifestations but can also cause central nervous system and ocular abnormalities. Awareness of the ocular complications
Y. Islam, S. Khurshid
semanticscholar   +1 more source

Single-Cell RNA Sequencing in Incontinentia Pigmenti With Neonatal Encephalopathy Reveals Broad Immune Activation Moderated by Steroids

Neurology(R) neuroimmunology & neuroinflammation
Background and Objectives DNA variations in the NF-kappa-B essential modulator (NEMO) gene are linked to incontinentia pigmenti (IP) and also immunodeficiency and autoinflammatory conditions.
S. Mohammad, V. Han, B. Gloss, B. Keating, H. Nishida, Xianzhong Lau, Ruwani Dissanayake, Shrujna Patel, Russell C Dale   +8 more
semanticscholar   +1 more source

Whole Exome Sequencing in Incontinentia Pigmenti: A ROP Mimicker and the Genetic Detection Dilemma.

Journal of pediatric ophthalmology and strabismus
Incontinentia pigmenti is an X-linked dominant multisystemic disorder caused by pathogenic variants in the inhibitor of nuclear factor kappa B kinase regulatory subunit gamma (IKBKG) gene.
Hema Duraiswamy, Hari Vignesh, Sreeramyaa Palanisamy, Kamatchi Rajendran, Dipankar Datta   +4 more
semanticscholar   +1 more source

MACULAR NEUROVASCULAR ABNORMALITIES IN A CHILD WITH INCONTINENTIA PIGMENTI ON HANDHELD OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY

Retinal cases & brief reports, 2022
Depth-resolved investigational handheld optical coherence tomography imaging in a child with incontinentia pigmenti revealed localized retinal thinning with concurrent capillary flow loss and diving of superficial retinal vessels as they traversed from ...
Pujan R. Patel, Vincent Tai, R. Imperio, C. Viehland, J. Izatt, C. Toth, Xi Chen   +6 more
semanticscholar   +1 more source

Incontinentia Pigmenti In A Male Infant: A Case Report

Berkala Ilmu Kesehatan Kulit dan Kelamin
Background: Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant genodermatosis with an estimated incidence of 0.7–1.2 per 100,000 live births. It is caused by mutations in the IKBKG gene.
Arifiana Wungu, Kartika Dewi, Anindia Indraswari, Irmadita Citrashanty, I. Zulkarnain, Yuri Sawitri, Widia, Yuri Widia   +7 more
semanticscholar   +1 more source

NEONATAL INCONTINENTIA PIGMENTI – A CASE REPORT

Academic Medical Journal
Incontinentia pigmenti or Bloch-Sulzberger syndrome, is a rare multisystem, X-linked dominant disorder that most commonly occurs in female newborns. It is usually lethal, and most pregnancies with male fetuses result in miscarriage or stillbirth, while ...
Milena Kacarska Mickoska, Nikolina Zdraveska, Katerina Damevska   +2 more
semanticscholar   +1 more source

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases

Journal of Experimental Medicine
Heterozygosity for null NEMO mutations underlies hypotrophic and dysplastic thymus in mice and humans. Women with incontinentia pigmenti therefore have a high prevalence of autoantibodies neutralizing type I interferons, which predisposes them to severe ...
J. Rosain, Tom Le Voyer, Xian Liu, A. Gervais, L. Polivka, Axel Cederholm, L. Berteloot, Audrey V. Parent, A. Pescatore, Ezia Spinosa, S. Minić, A. Kiszewski, M. Tsumura, C. Thibault, Maria Esnaola Azcoiti, J. Martinovic, Q. Philippot, Taushif Khan, Astrid Marchal, Bénédicte Charmeteau-De Muylder, Lucy Bizien, C. Deswarte, Lillia Hadjem, M. Fauvarque, K. Dorgham, Daniel Eriksson, E. L. Falcone, Mathilde Puel, Sinem Ünal, Amyrath Geraldo, Corentin Le Floc’h, Hailun Li, Sylvie Rheault, C. Muti, Claire Bobrie-Moyrand, A. Welfringer-Morin, R.L. Fuleihan, R. Lévy, M. Roelens, Liwei Gao, M. Materna, Silvia Pellegrini, L. Piemonti, Emilie Catherinot, J. Goffard, Arnault Fekkar, Aissata Sacko-Sow, Camille Soudée, S. Boucherit, Anna-Lena Neehus, C. Has, S. Hübner, G. Blanchard-Rohner, Blanca Amador-Borrero, Takanori Utsumi, Maki Taniguchi, Hiroo Tani, K. Izawa, T. Yasumi, Sotaro Kanai, M. Migaud, M. Aubart, Nathalie Lambert, G. Gorochov, C. Picard, C. Soudais, A. L’Honneur, Flore Rozenberg, Joshua D. Milner, Shen-Ying Zhang, P. Vabres, D. Trpinac, N. Marr, Nathalie Boddaert, Isabelle Desguerre, M. Pasparakis, Corey N. Miller, Claudia Schermann Poziomczyk, L. Abel, Satoshi Okada, E. Jouanguy, R. Cheynier, Qian Zhang, A. Cobat, V. Béziat, B. Boisson, J. Steffann, Francesca Fusco, M. Ursini, S. Hadj-Rabia, C. Bodemer, J. Bustamante, H. Luche, A. Puel, Gilles Courtois, Paul Bastard, Nils Landegren, Mark S. Anderson, J. Casanova   +98 more
semanticscholar   +1 more source

Ophthalmologic Presentations of Incontinentia Pigmenti

Journal of VitreoRetinal Diseases
Purpose: To characterize treatments and outcomes in incontinentia pigmenti. Methods: Cases of incontinentia pigmenti were consecutively identified from a retina practice. Inclusion criteria were patients with incontinentia pigmenti with at least 6 months
Ravneet Rai, Albert S. Li, P. Ferrone
semanticscholar   +1 more source