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Incontinentia pigmenti [PDF]

Anais Brasileiros de Dermatologia, 2014
Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth.
Claudia Schermann Poziomczyk, Julia Kanaan Recuero, Luana Bringhenti, Fernanda Diffini Santa Maria, Carolina Wiltgen Campos, Giovanni Marcos Travi, Andre Moraes Freitas, Marcia Angelica Peter Maahs, Paulo Ricardo Gazzola Zen, Marilu Fiegenbaum, Sheila Tamanini de Almeida, Renan Rangel Bonamigo, Ana Elisa Kiszewski Bau   +12 more
doaj   +8 more sources

Severe COVID-19 and long COVID in a 31-year-old woman with incontinentia pigmenti: A case report [PDF]

SAGE Open Medical Case Reports, 2021
Incontinentia pigmenti is a rare genetic disease affecting the skin, microvasculature, and central nervous system, in which a hyperactive inflammatory response is observed.
Sylvie Rheault
doaj   +2 more sources

Incontinentia pigmenti

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2006
Incontinentia pigmenti or Bloch-Sulzberger syndrome, is a rare X linked dominant disorder with characteristic skin, hair, eye, dental and neurological abnormalities commonly affecting females.
Hegde Sundeep, Bhat S, Soumya S, Pai D
doaj   +4 more sources

Incontinentia pigmenti

Indian Journal of Pathology and Microbiology, 2010
Incontinentia pigmenti (IP) or Bloch-Sulzberger syndrome is a rare X-linked dominant genodermatosis related to the NF kappa B essential modulator (NEMO) gene with approximately 800 cases reported worldwide.
Motamedi Mohammad Hosein, Lotfi Ali, Azizi Taghi, Moshref Mohammad, Farhadi Sareh   +4 more
doaj   +7 more sources

Case Report: Diagnosis and treatment of incontinentia pigmenti with central nervous system anomalies in one patient [PDF]

Frontiers in Pediatrics
IntroductionThis article reports a detailed case of a patient with incontinentia pigmenti who exhibited epileptic status and dermatologic symptoms.Case presentationA 5-month-old female patient was brought to our hospital due to status epilepticus, with ...
Yun Li, Junbin Hong, Shangge Xu, Tong Zhou, Xiaolan Xiao, Jinghua Yang, Yiting Chen   +6 more
doaj   +2 more sources

Retinal Neovascularization in Two Patients with Incontinentia Pigmenti [PDF]

Clinical, Cosmetic and Investigational Dermatology, 2022
Reiva Farah Dwiyana, Ivan Daniel Banjarnahor, Inne Arline Diana, Srie Prihianti Gondokaryono, Raden Mohamad Rendy Ariezal Effendi, Vina Feriza Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran-Dr.Hasan Sadikin ...
Dwiyana RF, Banjarnahor ID, Diana IA, Gondokaryono SP, Effendi RMRA, Feriza V   +5 more
doaj   +2 more sources

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti [PDF]

HGG Advances
Summary: Incontinentia pigmenti (IP) is caused by loss-of-function variants in IKBKG, with molecular genetic diagnosis complicated by a pseudogene. We describe seven individuals from three families with IP but negative clinical genetic testing in whom ...
Monica H. Wojcik, Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson, Linda Golkar, Miranda P.G. Zalusky, Angela L. Miller, Araceli Rodriguez, Joy Goffena, Camille A. Dash, Nikhita Damaraju, Sophia B. Gibson, Sophie H.R. Storz, Zachary B. Anderson, Jonas A. Gustafson, Isabelle Thiffault, Emily G. Farrow, Tomi Pastinen, Jasmine Lin, Jennifer T. Huang, Alan H. Beggs, Pankaj B. Agrawal, David T. Miller, Danny E. Miller   +25 more
doaj   +2 more sources

Incontinentia pigmenti: A series of six cases with isolated cutaneous involvement [PDF]

Indian Dermatology Online Journal
Incontinentia pigmenti (IP) is a rare multi-system genetic disorder mostly affecting females. It presents primarily with cutaneous lesions but is often associated with dental, ocular, neurological, musculoskeletal, and cardiovascular abnormalities.
Bhumesh K Katakam, Narsimha Rao Netha Gurram, Sudharani Chintagunta, Arunima Dhabal   +3 more
doaj   +2 more sources

Magnetic resonance imaging for diagnosing a rare disease: incontinentia pigmenti (Bloch–Sulzberger syndrome) on the example of a clinical case [PDF]

Digital Diagnostics, 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.
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   +8 more
doaj   +1 more source

Incontinentia Pigmenti: A Rare Genodermatosis in a Male Child [PDF]

Journal of Clinical and Diagnostic Research, 2015
Incontinentia pigmenti is rare X-linked dominant disorder. There is no consistent expression of Incontinetia pigmenti in female child, but in male child, they always lead to death in utero.
Dinesh Kumar Narayana Swamy, Arulkumaran Arunagirinathan, Revathi Krishnakumar, Sivaraman Sangili   +3 more
doaj   +1 more source