The Desmoid Tumor Research Foundation

March 2025

Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophy

Author Information

Maha Elseed 1, James N Sampson 2, Tuomo Polvikoski 2, Matthew Henderson 2, Yolande Parkhurst 2, Marta Bertoli 3, Marianela Schiava 4, Robert Muni Lofra 4, Dionne Moat 4, Karen Wong 4, Jassi Michell-Sodhi 4, Michela Guglieri 4, Volker Straub 4, Elizabeth Harris 3, Chiara Marini-Bettolo 4

1The John Walton Muscular Dystrophy Research Centre (JWMDRC), Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom; Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, United Kingdom. Electronic address: maha.elseed@nhs.net.2Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.3Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Northern Genetics Service, Institute of Genetics Medicine, International Centre for Life, Newcastle Upon Tyne, United Kingdom.4The John Walton Muscular Dystrophy Research Centre (JWMDRC), Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom; Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, United Kingdom.

Publication

Neuromuscul. Disord.

Summary

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.

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