Case report: Variability in clinical manifestations within a family with incontinentia pigmenti

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

Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology

Autor: Kang Nien How, Hazel Jing Yi Leong, Zacharias Aloysius Dwi Pramono, Kin Fon Leong, Zee Wei Lai, Wei Hsum Yap

Publikováno v: Frontiers in Pediatrics, Vol 10 (2022)

Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis. The disease is known to be caused by recurrent deletion of exons 4–10 of the Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma (IKBKG) gene located at the Xq28 ch

Externí odkaz: https://doaj.org/article/d58db252c95e4f4ab5713be085813863

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Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: recommendations for clinical management

Autor: Livia Garavelli, Liana Palermo, Chiara Gelmini, Francesca Fusco, Loredana Canzano, Maria Rosa Pizzamiglio, Filippo Bianchini, Matilde Valeria Ursini, Giovanni D’Antuono, Laura Piccardi

Publikováno v: Europe PubMed Central
Applied neuropsychology (2017): 1–8. doi:10.1080/21622965.2016.1188388
info:cnr-pdr/source/autori:Pizzamiglio M.R.; Piccardi L.; Bianchini F.; Canzano L.; Palermo L.; Fusco F.; D'Antuono G.; Gelmini C.; Garavelli L.; Ursini M.V./titolo:Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management/doi:10.1080%2F21622965.2016.1188388/rivista:Applied neuropsychology/anno:2017/pagina_da:1/pagina_a:8/intervallo_pagine:1–8/volume

Incontinentia Pigmenti (IP, OMIM#308300) is a rare X-linked genomic disorder (about 1,400 cases) that affects the neuroectodermal tissue and Central Nervous System (CNS). The objective of this study was to describe the cognitive-behavioural profile i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40faa13f7aa75ddeba91f4e82453d882
http://hdl.handle.net/11573/1360878

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