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Macrodystrophia lipomatosa: Clinical and radiological insights into localized gigantism.
Radiol Case Rep
February 2025
Department of Radiodiagnosis, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi (Meghe), Wardha, Maharashtra, India, 442001.
A rare type of localized gigantism known as macrodystrophia lipomatosa is characterized by a disproportionate increase in fibroadipose tissues and a gradual overgrowth of all mesenchymal elements. The distribution in the lower extremities' plantar nerves and the upper extremity's median nerve is most commonly observed. This abnormality is congenital and typically manifests at birth or during the neonatal stage.
View Article and Find Full Text PDFGenetic basis and imaging findings of neurofibromatosis 1 and other somatic overgrowth disorders.
Skeletal Radiol
September 2024
Norwich Medical School, University of East Anglia, Norwich Research Park, Norfolk, NR4 7TJ, UK.
Article Synopsis
- Somatic overgrowth disorders are rare conditions characterized by the abnormal enlargement of specific tissues, often related to the activation of the PI3K-AKT-mTOR signaling pathway, which is also implicated in cancer.
- Genetic variations can either enhance or inhibit this pathway, leading to excessive cell growth in particular areas, noted in disorders like CLOVES syndrome and Klippel-Trenaunay syndrome.
- Neurofibromatosis type 1 (NF1) involves faulty regulation of this pathway due to mutations in the NF1 gene, resulting in a range of growth abnormalities that can resemble other PIK3CA-related conditions, prompting a focus on their shared genetic and radiological features.
Macrodystrophia Lipomatosa: A Rare Case of Ulnar Nerve Territory Involvement.
Indian J Radiol Imaging
July 2024
Department of Radiodiagnosis and Imaging, Kasturba Medical College, Mangalore, India.
Macrodystrophia lipomatosa (MDL) is a rare congenital, nonhereditary anomaly characterized by overgrowth of all the mesenchymal elements, predominantly the fibroadipose tissue in a sclerotomal distribution commonly involving the median nerve territory in the upper extremity and plantar nerve territory in the lower extremity. It can be either static or progressive, with the former being the more common. MDL is usually present since birth and the affected digit/region increases in length and girth, and growth ceases after puberty.
View Article and Find Full Text PDFFibrolipomatous hamartroma with macrodactyly in a 4 years old female patient: A case report.
Int J Surg Case Rep
May 2024
Division of Plastic Reconstructive and Aesthetic Surgery, Department of Surgery, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia.
Introduction: Neural fibrolipoma, also known as fibrolipomatous hamartoma (FLH), is a rare benign tumor that usually affects the upper limb and tends to develop near the n. median. FLH is a rare birth defect defined by the noncancerous growth of fibroadipose tissue around nerve bundles.
View Article and Find Full Text PDFMacrodystrophia Lipomatosa: A Case Report and Relevant Anatomical Considerations.
J Belg Soc Radiol
March 2024
Interventional Radiology Unit, Hospital Curry Cabral - Unidade Local de Saúde São José (ULS São José), Lisbon, Portugal; Nova Medical School, Universidade NOVA de Lisboa, Lisbon, Portugal.
Macrodactyly, a often congenital anomaly, entails abnormal enlargement of digits, predominantly affecting hands or feet, either in isolation or as part of a syndromic condition. The authors present a case of Macrodystrophia Lipomatosa (ML), a form of macrodactyly, in a 62-year-old patient, emphasizing macrodactyly manifestations through clinical and radiological assessments. Additionally, the authors explore anatomical aspects related to nerve distribution in affected digits, providing a comprehensive understanding of ML.
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