Desmoid Fibromatosis Presenting with Gastrointestinal Manifestations in a Patient with Ehlers-Danlos Syndrome: A Case Report

Abstract

Ehlers-Danlos syndrome comprises 13 hereditary connective tissue disorders associated with skin hyperelasticity, joint hypermobility, atrophic scarring, and blood vessel fragility. Hypermobile EDS, the most common subtype, has no clear genetic or molecular source. When presented with wide-ranging clinical symptoms, it requires effective clinical diagnosis. A 31-year-old female with hypermobile EDS underwent an abdominal Computed Tomography (CT) scan displaying a 2.9 cm soft-tissue mass possibly arising from the terminal ileum, which was revealed to be a desmoid fibromatosis. It is believed that Gastrointestinal (GI) manifestations may be associated with EDS, specifically the hypermobile subtype. The patient demonstrated manifestations commonly seen throughout the literature on hypermobile EDS, including abdominal pain, nausea, and diarrhoea. With symptoms worsening, a follow-up CT disclosed an enlargement of the ileocecal desmoid tumour, measuring 5.1 cm. Because all the subtypes of EDS share features such as tissue fragility, joint hypermobility, and skin hyperextensibility, and many of the manifestations are insufficient to establish a diagnosis, imaging modalities are essential for proper identification and patient management. Given the patient’s medical history and the involvement of EDS and desmoid tumours with connective tissue, there is a strong linkage between desmoid fibromatosis and the patient’s hypermobile Ehlers-Danlos diagnosis. The available literature does not clearly attribute such a tumour to the syndrome. This patient’s symptoms represent a possible association between hypermobile EDS and desmoid fibromatosis, warranting future research in this area. The patient is now stable and was recently discharged.

Keywords

• computed tomography
• hereditary connective tissue disorders
• hypermobility
• postural orthostatic tachycardia syndrome
• terminal ileum