Incontinentia pigmenti (IP) is a rare neurocutaneous disorder caused by mutations in the NEMO (NF-kappaB essential modulator) gene. Skin lesions are typically the first manifestation of IP though they may be accompanied by multiple malformations. This report presents the case of a female newborn with early onset of IP lesions within the 1st day of life. After the age of 1 month she developed frequent episodes of severe gastroenteritis. Examination of the immune system revealed low concentrations of IgG subclasses. This study suggests that, contrary to previous belief, IP is associated with immune deficiency.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1159/000087416 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study.
Orphanet J Rare Dis
December 2024
Department of Dermatology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 67, Aarhus N, 8200, Denmark.
Article Synopsis
- Incontinentia pigmenti (IP) is a rare X-linked dominant disorder linked to the IKBKG gene, and this study highlights the need for more research on its epidemiology in Denmark.
- A nationwide study identified 75 patients with IP, predominantly females, and estimated the birth prevalence at 2.37 per 100,000 live births, which is significantly higher than previous estimates.
- The study found that many patients exhibited typical skin lesions and other symptoms affecting teeth, the nervous system, hair, eyes, and nails, indicating a multisystem impact of the disorder.
Genome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmenti.
Br J Dermatol
November 2024
Genetics and Genome Biology Program, Peter Gilgan Centre for Research and Learning, Toronto, Ontario, Canada.
Skin Discoloration After Iatrogenic Fluorescein Dosing Error.
JAMA Ophthalmol
November 2024
Emergency Medicine/Toxicology, Boston Children's Hospital, Boston, Massachusetts.
Finding NEMO in the thymus.
J Exp Med
November 2024
Infection Immunity and Inflammation Research and Teaching Department, University College London Institute of Child Health, London, UK.
Rosain et al. (https://doi.org/10.
View Article and Find Full Text PDFMelanin Incontinence, Infantile Stroke, and Negative Genetics in a Case of Incontinentia Pigmenti.
Ann Indian Acad Neurol
September 2024
Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bengaluru, Karnataka, India.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!