Results 81 to 90 of about 2,494 (91)

Incontinentia Pigmenti: A Case Report in a 1 Month Old Female Baby

International Journal of Science and Research (IJSR), 2022
: Introduction: Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome is a rare X linked dominant disorder that presents as skin lesions most commonly. This condition occurs due to mutation in NEMO (NF kB essential modulator) gene.
Bonnyma Rongpharpi
semanticscholar   +1 more source

Incontinentia pigmenti Stage 1 is not simply vesiculo‐bullous but vesiculo‐pustular

Pediatric dermatology
Incontinentia pigmenti (IP) is a rare X‐linked dominant, male‐lethal disorder characterized by pathognomic skin lesions. As described in the literature the typical cutaneous changes follow the pattern of Blaschko's lines and develop in four stages that ...
Tubanur Çetinarslan, R. Fölster-Holst, D. van Gysel, Matthias Buchner, R. Happle   +4 more
semanticscholar   +1 more source

Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene

American Journal of Medical Genetics. Part A
Incontinentia pigmenti (IP, Bloch‐Sulzberger syndrome) is a multisystem disorder which associates specific skin lesions that evolves in four stages, and occasionally, central nervous system, eye, hair, and teeth involvement.
J. Steffann, Judite De Oliveira Santos, Anne-Laure Zelbin, S. Hadj-Rabia, F. Charbit-Henrion, Florence Petit   +5 more
semanticscholar   +1 more source

CHORIORETINAL ANASTOMOSIS AND RETINAL DETACHMENT WITH LASER PHOTOCOAGULATION-TREATED INCONTINENTIA PIGMENTI

Retinal cases & brief reports
A pediatric patient with incontinentia pigmenti underwent peripheral laser of avascular retina. A chorioretinal anastomosis formed secondary to the laser, resulting in tractional and rhegmatogenous detachment.
BA Spencer S. Burt, M. M. J. Peter Campbell, MD Benjamin K. Young   +2 more
semanticscholar   +1 more source

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

Experimental Dermatology, 2021
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.
H. Kim, Hyun Beom Song, K. H. Kim, Jeong Hun Kim, J. Chae, M. Kim, M. Seong, J. Ko   +7 more
semanticscholar   +1 more source

Incontinentia Pigmenti - One case, two diagnoses

Journal of Clinical Images and Medical Case Reports
Incontinentia Pigmenti is a rare X-linked genodermatosis caused by mutations in the IKBKG gene. It is a systemic disease mainly involving tissues of ectodermic origin, manifesting itself primarily as skin lesions but also as changes in the hair, nails ...
Alexandra Andrade
semanticscholar   +1 more source

An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation

Journal of Clinical Immunology, 2023
W. Mou, Zhipeng Zhao, Liwei Gao, Libing Fu, Jia Li, Anxia Jiao, Yun Peng, Tong Yu, Yan Guo, Lanqin Chen, Hao Wang, Jun Liu, Q. Qin, Baoping Xu, Xiuyun Liu, Jianxin He, Jingang Gui   +16 more
semanticscholar   +1 more source

Incontinentia Pigmenti: X-Linked Skin Disorder: A Case Report.

Neonatal network : NN, 2022
Laurie Gelardi
semanticscholar   +1 more source

Phänotypisches und genetisches Spektrum von Incontinentia pigmenti – eine große Fallserie

, 2022
S. Hübner, A. Schwieger‐Briel, Kristin Technau‐Hafsi, Sorina Danescu, Adrian Baican, M. Theiler, L. Weibel, C. Has   +7 more
semanticscholar   +1 more source

Incontinentia pigmenti: What we know and can we manage it as retinopathy of prematurity?

Oman Journal of Ophthalmology, 2022
Nouf Al-Farsi, Aseel Al Rashdi
semanticscholar   +1 more source