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Congenital melanocytic nevus syndrome: An association between congenital melanocytic nevi and neurological abnormalities.
Semin Pediatr Neurol
October 2024
Department of Pediatrics, Division of Pediatric Dermatology, Dell Medical School, University of Texas, 1301 Barbara Jordan Blvd, Suite 200A, Austin, TX 78723, United States. Electronic address:
Article Synopsis
- Congenital melanocytic nevus syndrome is characterized by the presence of congenital melanocytic nevi (CMN) along with various neurosystem abnormalities, primarily due to mutations in the NRAS gene.
- CMN appears as collections of melanocytes on the skin and can be classified by size and various clinical features like location and color, while neurological issues might include seizures and developmental delays.
- Early MRI screening of the central nervous system in infants is essential for assessing potential neurological risks, and while some outcomes are favorable with normal MRI results, severe complications can arise if melanoma develops.
Chromosome 8 Inversion Mutation in Congenital Generalized Hypertrichosis: Precise Breakpoints Localization.
Br J Dermatol
October 2024
Department of Dermatology, The Children's Hospital of Fudan University, Shanghai 201102, China.
A rare coexistence of a non-dysraphic intradural lipoma and a cyst in the lumbar spine - A case report and literature review.
Int J Surg Case Rep
November 2024
Department of Neurosurgery, Tartous University, Tartous, Syrian Arab Republic.
Article Synopsis
- Spinal intradural lipomas are rare tumors, particularly when not linked to spinal dysraphism, and are often diagnosed late due to their gradual growth and location.
- A case involving an eight-year-old girl revealed a lipoma and a cyst in her lumbar region, leading to symptoms like limb weakness and urinary issues; both lesions were partially removed surgically with a successful recovery.
- The discovery of fluid-filled cysts alongside lipomas is extremely rare, and while the exact origin of these lipomas is unclear, their coexistence with cysts may prompt earlier detection and intervention.
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Am J Hum Genet
August 2024
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Article Synopsis
- KMT2C and KMT2D are important enzymes that modify genes, with KMT2C haploinsufficiency recently linked to Kleefstra syndrome 2, a neurodevelopmental disorder (NDD) with unknown clinical details.
- A study involving 98 individuals found that most pathogenic variants in KMT2C span nearly all its exons, making variant interpretation difficult; the study also established a KMT2C DNA methylation signature for better classification of the disorder.
- Key features of KMT2C-related NDD include developmental delays, intellectual disabilities, and distinct facial characteristics, setting it apart from similar conditions like Kleefstra and Kabuki syndromes, indicating the need for its renaming and
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