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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 PDFReview of encephalocraniocutaneous lipomatosis.
Semin Pediatr Neurol
December 2024
Dell Medical School, The University of Texas at Austin, Austin, TX, USA. Electronic address:
Article Synopsis
- Encephalocraniocutaneous lipomatosis (ECCL), or Haberland syndrome, is a rare condition affecting the skin, central nervous system, and eyes, characterized by tumors and other abnormalities.
- Key symptoms include specific skin lesions, subcutaneous lipomas, and neurological issues like intracranial lipomas and developmental delays.
- Diagnosis primarily relies on clinical evaluation with possible genetic testing; management is multidisciplinary, focusing on symptom relief and monitoring for potential complications.
A 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.
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