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Partial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti.
J Clin Med
January 2025
Department of Systems Medicine, University of Rome Tor Vergata, 00133 Rome, Italy.
: The nuclear factor (NF)-kB essential modulator (NEMO) has a crucial role in the NFκB pathway. Hypomorphic pathogenic variants cause ectodermal dysplasia with immunodeficiency (EDA-ID) in affected males. However, heterozygous amorphic variants could be responsible for Incontinentia Pigmenti (IP) in female carriers.
View Article and Find Full Text PDFIncontinentia Pigmenti-Dermoscopy Features of Early Evolving Disease.
Indian Dermatol Online J
November 2024
Department of Dermatology and Venereology, Pondicherry Institute of Medical Sciences, Puducherry, India.
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.
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