Results 31 to 40 of about 2,525 (203)

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  

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

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

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

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

Incontinentia Pigmenti presenting as a newborn eruption: two case presentations [PDF]

, 2016
Linear vesicles or papules in a newborn can be a presenting sign of incontinentia pigmenti (IP). In this report, we present two cases of neonates with cutaneous manifestations of incontinentia pigmenti. In one case, mild peripheral eosinophilia was noted.
Flamm, Alexandra, Shagalov, Devorah, Xu, Michelle, Hsu, Emily, Glick, Sharon A   +4 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, Volume 40, Issue 7, Page 1137-1161, July 2026.
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

Incontinência pigmentar ligada ao X ou síndrome de Bloch-Sulzberger: relato de um caso X-linked incontinentia pigmenti or Bloch-Sulzberger syndrome: a case report

Anais Brasileiros de Dermatologia, 2010
A incontinência pigmentar é uma genodermatose rara, ligada ao X, que afeta, principalmente, neonatos do sexo feminino. As manifestações cutâneas são as mais prevalentes, e ocorrem em quatro fases bem distintas. Lactente feminina com lesões vesicobolhosas
Marcela A. C. Pereira, Lismary A. de F. Mesquita, Anelise R. Budel, Carolina S. P. Cabral, Amanda de S. Feltrim   +4 more
doaj   +1 more source

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene. Based on our observations and a review of the literature, we demonstrate that the NM_001360.2(DHCR7):c.89G>C p.(Gly30Ala) variant is associated with a mild SLOS phenotype.
Júlia Martinková, Emílie Vyhnálková, Martin Schwarz, Miroslava Balaščaková, Veronika Biddle, Romana Borská, Lenka Fajkusová, Lukáš Ryba, Anna Křepelová   +8 more
wiley   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 904-913, May 2026.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source