versão On-line ISSN 1994-3032
S. Afr. j. child health vol.7 no.3 Cape Town Jan. 2013
A KanyamuhungaI, II; N McCallIII, IV; L TuyisengeV, VI; C MumenaVII; D C StefanVIII
IMD, MMed; N McCall Department of Paediatrics and Child Health, Kigali University Teaching Hospital, Kigali, Rwanda
IIMD, MMed; N McCall. Faculty of Medicine, National University of Rwanda, Butare, Rwanda
IIIMD, MPH, Department of Paediatrics and Child Health, Kigali University Teaching Hospital, Kigali, Rwanda
IVMD, MPH. Faculty of Medicine, National University of Rwanda, Butare, Rwanda
VMD, MMed Department of Paediatrics and Child Health, Kigali University Teaching Hospital, Kigali, Rwanda
VIMD, MMed Faculty of Medicine, National University of Rwanda, Butare, Rwanda
VIIDDS, MDent, Kigali Health Institute, Kigali, Rwanda
VIIIMD, PhD Department of Paediatrics and Child Health, Faculty of Health Sciences, Stellenbosch University, South Africa
Desmoid tumours are a rare group of locally aggressive, non-malignant tumours of fibroblastic origin that can result in significant morbidity due to local invasion. Facial involvement in children with aggressive fibromatosis is uncommon. We present the case of a 14-month-old Rwandan child with an aggressive desmoid tumour involving the left mid-facial region. The patient presented with severe stertor due to massive nasal obstruction. After intensive supportive care the diagnosis was confirmed histopathologically. Treatment consisted of eight courses of chemotherapy with vincristine, actinomycin-D and cyclophosphamide, followed by surgical removal of the remaining mass. The outcome was impressive and encouraging.
Desmoid tumours are a rare group of locally aggressive, non-malignant tumours of fibroblastic origin that can result in significant morbidity due to local invasion and may even result in a fatal outcome when located around a vital organ. The tumours are known to involve muscle, subcutaneous tissue and neuromuscular structures, with less involvement of the bones.
The abdomen remains the most common site of origin of desmoid tumours, which can also occur in extra-abdominal areas.[2-5] About one-third of all desmoid tumours are extra-abdominal, with the majority of these occurring in the shoulder girdle or pelvic region. The head and neck are an uncommon site for these lesions, comprising roughly 11 -15% of extra-abdominal desmoids.
We present the case of a 14-month-old Rwandan child with a desmoid tumour arising on the head in the left mid-face region.
A 14-month-old child with stertor due to an obstructive oral mass and a history of progressive facial swelling leading to left nasal obstruction was referred to the Paediatric Department at Kigali University Teaching Hospital, Rwanda. The mass had first been noticed at the corner of the left nostril, progressively involving the side of the face with nasal deviation and complete obstruction over the course of 1 month prior to the patient's arrival in the Department. Examination revealed a firm, non-tender swelling measuring about 12 cm x 5 cm and involving the upper let gingival and sot palate region with complete obstruction of the left nostril (Fig. 1).
On admission, the patient's general status was marked by facial deformity with mild respiratory distress. The rest of the clinical examination was unremarkable, and there was no lymph node involvement. The patient received immediate supportive care in the form of painkillers and oxygen therapy.
A transcutaneous biopsy of the mass was performed and submitted to the Department of Pathology at Brigham and Women's Hospital, Boston, USA, for histopathological examination. The tumour demonstrated histological features of aggressive fibromatosis. After histopathological confirmation of the disease, the patient received chemotherapy followed by surgical removal of the remnant mass.
The chemotherapy given included a combination of vincristine, actinomycin-D and cyclophosphamide (VAC). The pre-operative course was given according to the 6 weeks schedule: vincristine 2 mg/m2 in intravenous (IV) infusion every 2 weeks, actinomycin-D 0.015 mg/kg/d by IV infusion for 5 days every 6 weeks, and cyclophosphamide 200 mg/m2 during the first course for 7 days and during every course thereafter for 5 days every 6 weeks. The mass had shrunk dramatically after 9 cycles (Fig. 2), and excision of the remaining firm mass was done when the tumour was resectable.
Pathological examination of the resected specimen showed histological features identical to the previous biopsy.
Postoperatively the patient did well and appears to be free of gross disease after the surgical resection.
Despite being benign tumours, desmoid fibromatosis may aggressively invade adjacent structures. These rare tumours are primarily found in the abdominal wall. Lesions of the head and neck representing a small subset, of which the majority arise in the supraclavicular region. Desmoids of the mid-face, as in our case, are extremely rare. Despite advances in the understanding of these tumours, their natural history is still not clear and the optimal treatment remains debatable.
A range of therapeutic options are available, and choosing the appropriate method for achieving local control depends on the functional and cosmetic outcomes of each method and the associated complications. Surgery remains the most favoured option when functionally and cosmetically acceptable. Management with a combination of modalities is useful in irresectable tumours. Radiotherapy may be indicated after margin-positive resection or if irresectable large tumours are present with impending functional problems in older children. Systemic therapies should also be considered when the tumour cannot be resected, especially in cases where radiation toxicity may be also unacceptable.
The current trend is strongly in favour of treating asymptomatic desmoids with observation, reserving treatment for tumours that may pose a threat to vital structures or show continued growth, as in our case.
This is the first case of aggressive desmoid fibromatosis in the mid-face to be described in a Rwandan child. Intensive supportive care on presentation associated with chemotherapy and surgery contributed to the patient's spectacular clinical response.
Ethics approval. Ethical approval was obtained from Kigali University Teaching Hospital, Rwanda, and the patient's mother consented to the publication of the photos.
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Correspondence: D C Stefan (email@example.com)