Zobrazeno 1 - 10
of 429
pro vyhledávání: '"IKBKG"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
Abstract Background Incontinentia pigmenti (IP) is an X-linked dominant multisystemic disorder caused by pathogenic variants in the IKBKG gene. Population-based research into the epidemiology of IP is lacking. Methods This nationwide cross-sectional
Externí odkaz:
https://doaj.org/article/75065dd8adca4689be41489f0a52d72c
Publikováno v:
BMC Neuroscience, Vol 25, Iss 1, Pp 1-14 (2024)
Abstract Introduction Incontinentia pigmenti (IP) is a rare neuroectodermal dysplasia caused by a defect in the IKBKG gene. The pathogenesis of central nervous system injury is believed to be related to microvascular ischemia. Currently, few treatmen
Externí odkaz:
https://doaj.org/article/dd0a0288dcf448b8b8e3c891c958da94
Autor:
Tatiana Belysheva, Tatiana Nasedkina, Irina Kletskaya, Dana Volchek, Irina Barinova, Vera Semenova, Aida Gadzhigoroeva, Ekaterina Zelenova, Timur Valiev, Elena Sharapova, Anna Michenko, Anastasiia Allenova, Darya Ponomareva
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
Diagnosing skin diseases in children can be a complex interdisciplinary problem. Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare hereditary genodermatosis related to a mutation in the IKBKG gene. We present a family ca
Externí odkaz:
https://doaj.org/article/9bbd02d73b2f4b84a40bcec5748a3af4
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundThis article reports a case of neonatal incontinentia pigmenti onset in only one male monozygotic twin with characteristic skin lesions after birth followed by severe cerebrovascular lesions.Case presentationA male infant, the first of mono
Externí odkaz:
https://doaj.org/article/26f476037e994fb49092c091da27403f
Autor:
Igor I. Yarmola, Anatoly V. Anikin, Dmitry A. Gankin, Lyubov E. Fomina, Natalia A. Kharitonova, Ilya S. Zhanin, Aleksandr A. Pushkov, Milana A. Basargina, Olga B. Kondakova
Publikováno v:
Digital Diagnostics, Vol 4, Iss 3, Pp 384-392 (2023)
Incontinentia pigmenti, also known as Bloch–Sulzberger syndrome, is a rare hereditary disease characterized by typical skin rashes and involvement of other organs and systems. Magnetic resonance imaging stands as the primary method for visualizing
Externí odkaz:
https://doaj.org/article/dce3cc5e33cb4a77a8aee3366557ee59
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
Incontinentia pigmenti (IP), an X-chromosome dominant genodermatosis caused by mutations in the IKBKG/NEMO gene, is a rare disease affecting the skin, teeth, eyes, and central nervous system. Here, we report two pedigrees of IP and detection of two n
Externí odkaz:
https://doaj.org/article/1b05a6096d464d8d91f74364ab30401f
Akademický článek
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Akademický článek
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Autor:
Lingfeng Xie, Yong Zhu, Liya He, Bing Yu, Jiajue Wang, Ruiqiang Fan, Xiumei Mo, Yu Zhang, Ting Xie
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
Incontinentia pigmenti (IP) is a rare neuroectodermal dysplasia caused by mutations in the IKBKG gene. We present a case of a 4-month-old female infant with erythematous vesicular skin lesions on the trunk and extremities. Histopathologic examination
Externí odkaz:
https://doaj.org/article/531d38f1d7aa43339f26e125c17d61c9
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background Incontinentia pigmenti (IP) is an X-liked dominant genodermatosis caused by mutations of the IKBKG/NEMO gene. IP is mostly lethal in males in utero, and only very rare male cases with a somatic mosaic mutation or a 47,XXY karyotyp
Externí odkaz:
https://doaj.org/article/86dbe6043c734cb79cb67d6bcb4c7426