Chest Wall Fibromatosis with Congenital Muscular Torticollis: Two Forms of Deep Fibromatosis in a Child

Desmoid tumors (fibromatosis) are intermediate grade, locally aggressive soft-tissue tumors. A rare case of chest wall fibromatosis in a girl with congenital muscular torticollis is being reported. This report also highlights the need for long-term surveillance in such cases, despite being a benign pathology.

To evaluate the impact of hormonal therapy on MRI characteristics of desmoid-type fibromatosis on T1-weighted, T2-weighted fat-saturated and post-contrast sequences. There was a significant reduction in enhancement among treated patients with stable/regressing disease (P = 0.049). The mean variation in enhancement grade was 1.3 ± 1.2 in these patients. All successfully treated patients presented a reduction in enhancement. Lesions with marked low enhancement or very low signal on T2-weighted images were rare in progressing lesions (0% and 13%). Hormonal therapy has an impact on desmoid-type fibromatosis signal characteristics reducing lesion enhancement.

We report a case of a 60-year-old patient with a large right colonic mass who underwent right hemicolectomy. Histology proved morphological and immuno-histochemical features indicating fibromatosis. This desmoid tumour appeared growing from the colonic wall rather than the mesocolon, confirming a true colonic wall fibromatosis, a deep isolated form of intra-abdominal fibromatosis. Surgical resection is the treatment of choice in isolated well confirmed lesions. Multidisciplinary team approach is crucial for treatment and prognosis.

This study aims to review currently used health-related quality of life (HRQL) measures and to asses HRQL issues among DTF patients. The search strategy identified thirteen articles reporting HRQL measures using a wide variety of cancer-specific HRQL tools, functional scores, symptom scales (e.g. NRS), and single-item outcomes (e.g. pain and functional impairment). No DTF-specific HRQL tool was found. Qualitative analysis of three focus groups (6 males, 9 females) showed that participants emphasised the negative impact of DTF and/or its treatment on several HRQL domains. Six themes were identified: (1) diagnosis, (2) treatment, (3) follow-up and recurrence, (4) physical domain, (5) psychological and emotional domain, and (6) social domain. Our study indicates that HRQL of DTF patients was negatively affected in several domains. A DTF-specific HRQL measure could improve our understanding of short- and long-term effects and, ideally, can be used in both clinic and for research purposes.

Port site desmoid tumours are extremely rare conditions. We describe a young female with large port site desmoid tumour following laparoscopic cholecystectomy managed with wide local excision and mesh placement.

Desmoid fibromatosis (DF) is a type of fibrous tumor that rarely metastasizes but often recurs locally. Cyclooxygenase-2 (COX-2) has been shown to be expressed in DF lesions, although its involvement in DF recurrence is unknown. We investigated the association between COX-2 expression and DF recurrence using immunohistochemistry. Cases of DF treated in our hospital between March 2000 and December 2012 were reviewed. We used immunohistochemistry to identify COX-2 expression in resected specimens from these cases. The relationship between recurrence and age, sex, duration of disease, size of tumor, tumor site, spontaneous pain, inflammation, and COX-2 expression was studied. In the ten included cases (mean age, 55.2 y; 5 male and 5 female patients), we found that COX-2 expression was significantly associated with DF recurrence (p=0.01).