Results 21 to 30 of about 1,818 (165)

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

An infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report

Clinical Case Reports, 2021
Pneumocystis jirovecii pneumonia associated with primary immunodeficiency should be considered in infants with slowly progressing cyanosis, even without fever or respiratory symptoms.
Miwako Toyohara, Yuko Kajiho, Etsushi Toyofuku, Chie Takahashi, Keiho Owada, Shoichiro Kanda, Yutaka Harita, Hidenori Ohnishi, Taizo Wada, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Akira Oka   +12 more
doaj   +1 more source

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  

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

Incontinentia pigmenti: case report and 5-year follow-up

Acta Odontologica Turcica, 2017
Introduction: Incontinentia Pigmenti (Bloch-Sulzberger Syndrome) is a disease of organ involvement with ectodermic and mesodermic origin, showing dominant transition based on the X-chromosome. It affects the skin, eyes, teeth, and central nervous system.
Ayşegül Sarı, Salih Çelik
doaj   +1 more source

Avascular Peripheral Retina in Infants

Türk Oftalmoloji Dergisi, 2023
Avascular peripheral retina in an infant is a common characteristic of numerous pediatric retinal vascular disorders and often presents a diagnostic challenge to the clinician.
Şengül Özdek, Ece Özdemir Zeydanlı, Caroline Baumal, Sandra Hoyek, Nimesh Patel, Audina Berrocal, Ashley Lopez-Cañizares, Hasenin Al-Khersan, Shunji Kusaka, Fukutaro Mano, Subhadra Jalali, Domenico Lepore, Solmaz Akar   +12 more
doaj   +1 more source

Bloch Sulzberger syndrome (Incontinentia pigmenti): A rare case report with dental defects

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2015
Incontinentia Pigmenti (IP) is a multisystem genodermatosis characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities. This article reports the clinical features and management of a 4-year-old girl diagnosed with IP.
Yaga Uday Shankar, Nikhat Fatima, Menji Ashwini Kumar, Kesary Sathya Prakash   +3 more
doaj   +1 more source

Incontinentia Pigmenti In A Male Infant: A Case Report

Berkala Ilmu Kesehatan Kulit dan Kelamin (Periodical of Dermatology and Venerology)
Background: Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant genodermatosis with an estimated incidence of 0.7–1.2 per 100,000 live births. It is caused by mutations in the IKBKG gene.
Arifiana Wungu Kartika Dewi, Anindia Indraswari, Irmadita Citrashanty, Iskandar Zulkarnain, Sawitri, Yuri Widia   +5 more
doaj   +1 more source

Incontinentia pigmenti with neurologic and oculodental disorders

Indian Journal of Paediatric Dermatology, 2016
Incontinentia pigmenti is a genodermatosis with X-linked dominant inheritance, characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities with a pattern suggestive of somatic mosaicism.
Jorge Arturo Avina Fierro, Daniel A Hernandez Avina   +1 more
doaj   +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