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Lookup NU author(s): Dr Maha Elseed, Dr James Sampson, Dr Tuomo Polvikoski, Matt Henderson, Yolande Parkhurst, Dr Marta Bertoli, Dr Marianela Schiava, Dionne Moat, Karen Wong, Jassi Michell-Sodhi, Professor Michela GuglieriORCiD, Professor Volker StraubORCiD, Dr Lizzie Harris, Professor Chiara Marini Bettolo
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© 2024 Elsevier B.V. Desmoid tumours, also known as aggressive fibromatosis, are rare tumours derived from mesenchymal stem cells, accounting for only 0.03 % of all tumours. While 85–90 % of cases are sporadic, desmoid tumours can occasionally be associated with Gardner syndrome (or Familial Adenomatous Polyposis), which is linked to variants in the tumour suppressor gene, APC (adenomatous polyposis coli) gene on chromosome 5. We describe a paediatric patient with congenital unilateral calf enlargement who was diagnosed as fibromatosis confirmed by muscle biopsy. Genetic workup was unrevealing, and muscle biopsy confirmed the diagnosis of fibromatosis. APC gene mutations were negative in this patient. Fibromatosis is a rare diagnosis which may have implications for the whole family and may present with congenital calf enlargement.
Author(s): Elseed M, Sampson JN, Polvikoski T, Henderson M, Parkhurst Y, Bertoli M, Schiava M, Lofra RM, Moat D, Wong K, Michell-Sodhi J, Guglieri M, Straub V, Harris E, Marini-Bettolo C
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Year: 2025
Volume: 47
Print publication date: 01/02/2025
Online publication date: 04/12/2024
Acceptance date: 03/12/2024
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier Ltd
URL: https://doi.org/10.1016/j.nmd.2024.105258
DOI: 10.1016/j.nmd.2024.105258
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