Review
Facial paediatric desmoid fibromatosis: A case series, literature review and management algorithm

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Summary

Desmoid fibromatosis (also known as infantile or aggressive fibromatosis) is a rare soft tissue tumour that is occasionally seen in children. Although histologically benign, its growth pattern is highly aggressive often showing invasion of surrounding musculature and bone.

Frequently found in cosmetically sensitive areas, complete excision can present a challenging problem. However, incomplete surgical excision is associated with high recurrence rates and although the disease responds to chemo and radiotherapy, both carry significant risks in young children.

The management of four paediatric desmoid fibromatoses occurring in the midface is discussed. The recent and pertinent literature is comprehensively reviewed and an algorithm for the management of paediatric desmoid fibromatoses is proposed.

Introduction

The International Agency for Research in Cancer (IARC) recognises 32 tumours of fibroblastic or myofibroblastic origin.1 This group contains common, benign diseases such as superficial fibromatoses (Dupuytren’s and Peyronie’s disease) to less common malignant forms such as fibrosarcoma. Desmoid fibromatosis (DF) is classified within this group.

DF is a rare condition with an estimated incidence of 2–4 per million.2 This disease encompasses two diagnoses once considered discrete: infantile fibromatosis and musculoaponeurotic fibromatosis (also known as abdominal or extra abdominal desmoid). A bimodal age distribution is therefore observed, being more common amongst those aged 5–16 years (representing the previous diagnosis of infantile fibromatosis) and women between puberty and age 40 (representing abdominal desmoids). In children, the sex distribution is roughly equal.3, 4 Treatment by surgical excision with adequate margins is considered best practice.4, 5, 6

These tumours develop in the deep soft tissue as fibroblast derived clonal expansions. Considered to have intermediate biologic behaviour, without ability to metastasize, they are characterised by infiltrative growth patterns and a tendency towards local recurrence.

DF’s often pose a diagnostic challenge because of their rarity and their atypical, easily misinterpreted, histologic features. Fibromatoses of childhood often show signs of increased cellularity, rapid growth and infiltrative margins: features that may be attributed to a malignant process. Such misclassification may lead to unnecessarily aggressive, potentially disfiguring treatment. Differentiating DF from malignant soft tissue tumours and a clear understanding of the natural history of the disease is imperative to inform appropriate management decisions.

We describe the management of four cases of this rare disease occurring within the midface, present a review of the literature and suggest an algorithm for treatment of DF presenting within the paediatric population.

Section snippets

Clinical experience

Four children with DF presented to the Leeds Craniofacial Clinic or Plastic Surgery department between 2005 and 2010. The mean age of onset and surgery was 2¼ years and 3 years respectively. All children underwent CT or MR imaging preoperatively and in all cases the diagnosis was confirmed by biopsy prior to definitive excision. All children received multidisciplinary input from head and neck surgeons (maxillofacial, plastic and neurosurgical), paediatric oncologists, histopathologists

Literature review

Juvenile soft tissue tumours were previously considered to fall within one of two discrete groups: Those with clinicopathologic correlates to adult diseases and those without. Previously classified independently, infantile or aggressive fibromatosis, shares histopathologic appearances with adult musculoaponeurotic fibromatosis. Following the publication of ‘Pathology and genetics of tumours of soft tissue and bone’ by IARC in 2002,1 these diagnoses are now collectively described as DF. This

Developing a treatment algorithm

The surgeon should understand the natural history of DF that present in childhood and be able to offer multimodal management that is customised to the individual. Meazza suggests this disease demands a new approach to measuring outcome. One should not strive, single-mindedly towards event free survival, but appreciate the importance of the likely functional and cosmetic sequelae of intervention and the burden of therapy.3 This may mean that surgery may only be offered in the situation where

Conclusions

Childhood DF are rare and will seldom be seen within ones regular practice. However, recognising the importance of the disease and referring those affected to specialist centres where treatment can be co-ordinated in a multimodal fashion can achieve excellent outcomes.

Acknowledgements

The authors thank the generous administrative support provided by Mrs Lesley Paley and Mrs Christine Chew.

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  • This work has not been presented wholly or in part at any meeting.

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