Background: Vascular anomalies (VAs) are a heterogenous group of conditions with varied biology and clinical presentations. Careful history and examination, and appropriate investigations are critical for accurate diagnosis and proper management. MRI with Gadolinum contrast is the single most useful investigation for VAs. Most VA patients undergo treatment without an initial histological diagnosis. We present three cases of soft tissue tumours masquerading as vascular malformations and highlight the overlapping MRI features of soft tissue tumours and vascular malformations, which may lead to improper treatment.
Methods: We reviewed the clinical presentation, investigations, management and histology for these three cases.
Results: Case one was a 14-year-old boy with a soft tissue mass on the chest wall, which was diagnosed as a venous malformation (VM) on MRI. This was treated with surgical excision, and the histolgy revealed a giant cell fibroblastoma. Case two was 29-year-old man with a left orbital mass presenting with ptosis and proptosis. This was diagnosed as a macrocystic lymphatic malformation (LM) on MRI scan. Histology following craniofacial resection showed a plexiform neurofibroma involving the frontal nerve and its branches. Case three was a 78 year-old woman presenting with a right orbital mass which shows features of VM on MRI. A biopsy demonstrated Schwannoma.
Conclusion: This case series of soft tissue tumours masquerading as vascular malformations highlights pitfalls in the management of VAs which typically relies on imaging particularly MRI without a tissue diagnosis. It underscores the importance of a multidisciplinary approach and the need to maintain a broad differential diagnosis. The overlapping MRI features of these soft tissue tumours and VAs will be discussed.