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Case Report: Diagnosis and treatment of with central nervous system anomalies in one patient.
Front Pediatr
January 2025
Department of Pediatrics, The Second Affiliated Hospital, Guangzhou University of Chinese Medicine, Guangzhou, China.
Introduction: This article reports a detailed case of a patient with who exhibited epileptic status and dermatologic symptoms.
Case Presentation: A 5-month-old female patient was brought to our hospital due to status epilepticus, with erythematous vesicular skin lesions on her trunk and extremities. Routine magnetic resonance imaging revealed infarction, ischemia, and encephalomalacia.
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 PDFSkin Discoloration After Iatrogenic Fluorescein Dosing Error.
JAMA Ophthalmol
November 2024
Emergency Medicine/Toxicology, Boston Children's Hospital, Boston, Massachusetts.
Melanin 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.
Genetic principles related to neurocutaneous disorders.
Semin Pediatr Neurol
October 2024
The University of Texas at Austin, Dell Medical School, Department of Neurology, 1601 Trinity Street, Building B, Austin, TX 78712, USA; Dell Children's Medical Center, 4910 Mueller Blvd. Suite 300 Austin, TX 78723, USA. Electronic address:
Article Synopsis
- A deep understanding of genetics is essential for diagnosing and managing neurocutaneous disorders, as different inheritance patterns are key to identification.
- Autosomal dominant disorders (e.g., neurofibromatosis type 1) appear in every generation, while autosomal recessive disorders (e.g., ataxia-telangiectasia) often skip generations and require two mutated gene copies.
- X-linked disorders primarily affect males and can be lethal, while conditions like Sturge-Weber syndrome are somatic mosaic, affecting only specific cells, and germline mosaicism can present as new, unexplained autosomal dominant disorders in families.
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