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Mosaic KRAS Mutation in Schimmelpenning-Feuerstein-Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features.
Pediatr Dermatol
December 2024
Department of Dermatology and Allergology, ERN-Skin Reference Center, Skin and Allergy Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
We report a patient with clinically confirmed Schimmelpenning-Feuerstein-Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.
View Article and Find Full Text PDFA Hemorrhagic Brain Mass in a Child With Encephalocraniocutaneous Lipomatosis.
J Pediatr Hematol Oncol
October 2024
Division of Hematology, Oncology, and Bone Marrow Transplant, Department of Pediatrics, Seattle Children's Hospital.
Article Synopsis
- Encephalocraniocutaneous lipomatosis (ECCL) is a rare genetic disorder characterized by specific skin, eye, and brain abnormalities.
- There have been case reports linking ECCL to low-grade gliomas and certain mutations in the FGFR1 gene.
- This report highlights a patient with ECCL who has a diffuse low-grade glioma and a unique FGFR1 mutation that affects the mitogen activated protein kinase pathway.
Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the gene.
J Med Genet
August 2024
Department of Neurosurgery, KU Leuven University Hospitals, Leuven, Belgium.
Article Synopsis
- Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome that affects the eyes, skin, and central nervous system, linked to specific genetic variants.
- A case study of a patient with Neurofibromatosis type 1 revealed a germline pathogenic variant associated with ECCL, suggesting a broader relationship between these conditions.
- Genetic analysis indicated biallelic inactivation happening early in embryonic development, which could explain the severe abnormalities typical of ECCL, activating the RAS-MAPK pathway and demonstrating different forms of mosaicism contributing to the phenotype.
Encephalocraniocutaneous Lipomatosis: A Case Report.
Ann Plast Surg
April 2024
Department of Plastic Surgery.
Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome and subclassification of oculoectodermal syndrome. Encephalocraniocutaneous lipomatosis may be associated with postzygotic mutations. However, absence of an identifiable mutation does not preclude a diagnosis of ECCL.
View Article and Find Full Text PDFEmerging insights into cephalic neural crest disorders: A single center experience.
J Clin Imaging Sci
February 2024
Department of Neuroimaging and Interventional Neuroradiology, All India Institute of Medical Sciences, New Delhi, Delhi, India.
Objectives: Neural crest cells (NCCs) are transient structures in the fetal life in vertebrates, which develop at the junctional site of the non-neural and neural ectoderm, sharing a common developmental origin for diverse diseases. After Epithelio-mesenchymal (EMT) of the NCCs within the neural tube, delamination of NCCs occurs. After delamination, the transformation of these cells into various cell lineages produces melanocytes, bones, and cartilage of the skull, cells of the enteric and peripheral nervous system.
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