Results 31 to 40 of about 10,846 (194)

Incontientia Pigmenti: a genodermatosis beginning in childhood

Revista Científica Estudiantil 2 de Diciembre, 2021
Introduction: incontinentia pigmenti is a dominant inheritance genodermatosis, with an approximate incidence of 1 per 50 000 live births, with 27.6 new cases per year.
Roine Alberto Pena Olivera, Leydiani Espin Guerra, Ana Laura Navarro Baldellot   +2 more
doaj  

Case reports of incontinentia pigmenti in males

Indian Journal of Dermatology, 2013
Incontinentia pigmenti is an X-linked dominant disorder, which is fatal in males, and majority of cases reported are in females. Here, we report 2 cases of males with incontinentia pigmenti.
Khushboo D Gupta, Bela B Padhiar, Umesh K Karia, Bela J Shah   +3 more
doaj   +1 more source

Incontinentia Pigmenti Associated with Aplasia Cutis Congenita in a Newborn Male with Klinefelter Syndrome: Is the Severity of Neurological Involvement Linked to Skin Manifestations?

Dermatology and Therapy, 2019
We report a rare case of a newborn male affected by incontinentia pigmenti, Klinefelter syndrome, and aplasia cutis congenita, who developed severe cutaneous, neurological, and ophthalmological manifestations.
Ruggero Moro, Antonella Fabiano, Piergiacomo Calzavara-Pinton, Jacopo Cardinale, Giovanni Palumbo, Silvia Giliani, Gaetana Lanzi, Francesca Antonelli, Micaela De Simone, Paola Martelli, Elisa Fazzi, Lorenzo Pinelli, Giulio Gualdi   +12 more
doaj   +1 more source

Current research into brain barriers and the delivery of therapeutics for neurological diseases: a report on CNS barrier congress London, UK, 2017. [PDF]

, 2017
This is a report on the CNS barrier congress held in London, UK, March 22-23rd 2017 and sponsored by Kisaco Research Ltd. The two 1-day sessions were chaired by John Greenwood and Margareta Hammarlund-Udenaes, respectively, and each session ended with a ...
A Brenn, A Reijerkerk, B Zhang, C Cerutti, DA Ridder, EJ Duh, ES Lippmann, GK Dogbevia, HC Helms, HC Helms, I Loryan, I Loryan, J Greenwood, J Keaney, J Korbelin, JA Ford, M Brkic, M Campbell, M Campbell, MA Lopez-Ramirez, O Huber, P Canning, R Martinelli, RE Vandenbroucke, S Balusu, S Dragoni, Y Hu, Y Molino, YH Chen   +28 more
core   +9 more sources

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

BMC Pediatrics, 2018
Background Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling pathway.
Nehla Ghedira, Arnaud Lagarde, Karim Ben Ameur, Sahar Elouej, Rania Sakka, Emna Kerkeni, Fatma-Zohra Chioukh, Sylviane Olschwang, Jean-Pierre Desvignes, Sonia Abdelhak, Valerie Delague, Nicolas Lévy, Kamel Monastiri, Annachiara De Sandre-Giovannoli   +13 more
doaj   +1 more source

CRISPR/Cas9-based editing of a sensitive transcriptional regulatory element to achieve cell type-specific knockdown of the NEMO scaffold protein [PDF]

, 2019
The use of alternative promoters for the cell type-specific expression of a given mRNA/protein is a common cell strategy. NEMO is a scaffold protein required for canonical NF-κB signaling.
Babaei, Milad, DiRusso, Christopher J., Gilmore, Thomas D., Kagermazova, Larisa, Liu, Yuekun, McCaslin, Ethan Z., Miyamoto, Shigeki, Wuerzberger-Davis, Shelly M., Yeo, Alan T.   +8 more
core   +1 more source

European S2k guidelines on management of autoimmune blistering diseases in children and adolescents

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Autoimmune blistering disorders (AIBDs) in children are rare, challenging to diagnose and treat and often require immunosuppressants. Until now, no paediatric care guidelines existed. The EADV Task Force for AIBDs has developed the consensus‐based recommendations, enabling physicians to adopt a uniform, tailored treatment strategy to improve outcomes ...
A. Nanda, B. Tedbirt, C. Bodemer, M. C. Bolling, M. El Hachem, M. Nikolić, E. Benton, M. Caproni, D. De, D. Didona, K. Drenovska, M. Goebeler, M. Hertl, B. Horváth, M. Kasperkiewicz, D. Kiritsi, M. Larralde, A. V. Marzano, J. Meijer, D. F. Murrell, J. Powell, E. Sprecher, N. S. Chandran, M. M. Tomayko, S. Uzun, N. van Beek, H. Ott, A. Patsatsi, A. Torrelo, A. Welfringer‐Morin, E. Schmidt, P. Joly   +31 more
wiley   +1 more source

Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti: A case report, literature review and insight into pathogenesis [PDF]

, 2018
Case presentation: A substance abusing G2P1 mother spontaneously delivered at term an appropriate for gestational age girl. Neonatal seizures appeared at 21hours and empiric anticonvulsive and antimicrobial treatment was started.
Gardiner, Jane, Kaczala, Gregor, Messer, Manuela, Poskitt, Ken, Prendiville, Juliette, Senger, Christof   +5 more
core  

NEMO‐NDAS: Case Report and Review of the Literature

Pediatric Dermatology, EarlyView.
ABSTRACT NEMO‐deleted exon 5 autoinflammatory syndrome (NEMO‐NDAS) is the result of a gain‐of‐function IKBKG pathogenic variant leading to dysregulated NF‐κB signaling and systemic inflammation. We present a case of NEMO‐NDAS in a 2‐year‐old female presenting with recurrent fevers, subcutaneous nodules, lymphadenopathy, and splenomegaly.
Angela Yang, Kristie Mar, Kimberly A. Morishita, Kevin Meesters, Antonio Torrelo, Joseph M. Lam   +5 more
wiley   +1 more source

WHO classification of skin tumours: key updates in the fifth edition

Histopathology, Volume 88, Issue 3, Page 555-568, February 2026.
This review article summarizes the key updates in the 5th edition of the WHO Classification of Skin Tumours. It provides an overview of the major changes and new entities specific to the skin section, covering areas such as epidermal, melanocytic, mesenchymal and other tumours. The 5th edition of the World Health Organization Classification of Tumours (
Gabrielle Goldman‐Lévy, Raymond Barnhill, Boris C. Bastian, Werner Kempf, David Elder, Pedram Gerami, Wayne Grayson, Dmitry Kazakov, Daniela Massi, Jane Messina, Arnaud de la Fouchardière, Alexander J. Lazar, Thomas Brenn, Brian Rous, Andrew Field, Anthony Gill, Jennelle C. Hodge, Joseph D Khoury, Katia Leite, Shahin Sayed, Puay Hoon Tan, Rosalie Elenitsas, Eduardo Calonje, Lyn M. Duncan, Liang Zhiyong, Holger Moch, Rajendra Singh, Harshima Wijesinghe, Ian Cree, Dilani Lokuhetty   +29 more
wiley   +1 more source