AMER IC AN JOURNAL OF OT OLA RYNGOLOGY–H E A D A N D NE CK M E D ICI N E AN D S U RGE RY X X (2 0 1 6) XXX –XXX

Available online at www.sciencedirect.com

ScienceDirect
www.elsevier.com/locate/amjoto

Case Report

Pediatric desmoid fibromatosis of the

parapharyngeal space: A case report and review of
literature☆,☆☆

Zhong Zheng, MD a,⁎, Adrienne C. Jordan, MD b , Alyssa M. Hackett, MD a ,

Raymond L. Chai, MD a, c
a
Department of Otolaryngology, New York Eye and Ear Infirmary of Mount Sinai, New York, NY, USA
b
Department of Pathology, New York Eye and Ear Infirmary of Mount Sinai, New York, NY, USA
c
Institute of Head, Neck and Thyroid Cancer, Mount Sinai Beth Israel, New York, NY, USA

ARTI CLE I NFO A BS TRACT

Article history: Desmoid fibromatosis, or aggressive fibromatosis, is a benign but locally infiltrative
Received 31 December 2015 fibroblastic neoplasm arising from fascial or musculoaponeurotic tissues. Although
lacking metastatic potential, head and neck fibromatosis can have significant functional
or cosmetic morbidities. 7%–15% of all desmoid tumors are seen in the head and neck
region, 57% of which occur in the pediatric population. The incidence of pediatric desmoid
tumor peaks around age 8. Treatment of choice is complete surgical resection; however,
local recurrence is common. We present a case of a 14-month-old male with an 8-cm
desmoid tumor in the right parapharyngeal space and provide an overview of diagnosis and
management of pediatric head and neck fibromatosis. This is the largest desmoid tumor of
the parapharyngeal space in the youngest patient described in the literature.
© 2016 Elsevier Inc. All rights reserved.

1. Introduction
Desmoid fibromatosis, also known as aggressive fibromatosis,
is a neoplastic monoclonal proliferation of fibroblasts, with an
incidence of 2 to 4 per million per year [1]. The incidence
peaks at 8 years of age, as well as in the third or fourth
decades of life [2]. It is most commonly classified as intra-
abdominal, abdominal wall, or extra-abdominal. Intra-ab-
dominal fibromatosis is associated with familial adenoma-
tous polyposis (FAP) and Gardner's syndrome. Head and neck
desmoid fibromatosis represents 7%–15% of all cases [1]. It has
a tendency to be locally invasive but does not metastasize.
Nevertheless, it can be associated with significant functional
and cosmetic morbidities, attributed to the intricate anatomy
of the head and neck region.
The most common presenting symptom of head and neck
fibromatosis is an enlarging painless mass [5]. The mandible
is the most commonly affected location, followed by the

☆
Note: This manuscript was accepted for a poster presentation at The Triological Society Combined Sections Meeting in Miami Beach,
FL, January 22–24, 2016.
☆☆
The authors have no funding, financial relationships, or conflicts of interest to disclose.
⁎ Corresponding author at: Department of Otolaryngology, New York Eye and Ear Infirmary of Mount Sinai, 310 East 14th Street, New York,
NY 10003, USA. Tel.: + 1 212 979 4545.
E-mail addresses: zzheng@nyee.edu (Z. Zheng), adjordan@nyee.edu (A.C. Jordan), ahackett@nyee.edu (A.M. Hackett),
rchai@chpnet.org (R.L. Chai).

http://dx.doi.org/10.1016/j.amjoto.2016.02.003
0196-0709/© 2016 Elsevier Inc. All rights reserved.

Please cite this article as: Zheng Z, et al, Pediatric desmoid fibromatosis of the parapharyngeal space: A case report and review
of literature, Am J Otolaryngol–Head and Neck Med and Surg (2016), http://dx.doi.org/10.1016/j.amjoto.2016.02.003
2 AMER ICA N JOURNAL OF OT OLA RYNGOLOGY–H E A D A N D N E CK M EDI CI N E AN D S U RGE RY X X (2 0 1 6) XXX –XXX

submandibular area, neck, tongue, and paranasal sinuses,

respectively [3,9]. Two cases of parapharyngeal fibromatosis
have been described in the literature [2,5]. CT and MRI are
imaging modalities of choice and are valuable in assessing
extent of disease and involvement of vital structures. Imaging
findings are variable based on cellularity and collagen content
of lesions [1,6]. Definitive diagnosis often requires incisional
biopsies, as fine needle aspirations and core biopsies are
frequently inconclusive [3]. Histologically, lesions comprise
uniform-appearing spindle cells with intervening collagenous
stroma and without dysplastic features. Positive β-catenin
staining is characteristic in fibromatosis, but it is not disease
specific [1,6]. Treatment of choice is surgical excision with
clear margins; however, local recurrence is common, ranging
from 13% to 47% [1]. Complete resection is often challenging
due to involvement of major neurovascular structures of the
head and neck and a tendency for lesions to spread along
fascial planes without a capsule. The association between
positive margin status and local recurrence has been debated
in the literature [1–3,5,8,12]. Preservation of function and
avoiding unnecessary morbidity should be given a high
priority. Adjuvant radiotherapy or chemotherapy may be
valuable in controlling microscopic or macroscopic residual
disease [1–3,5]; however, interpretation of data is limited by
heterogeneity and rarity of the disease.

2. Case presentation

A 14-month-old male presented with a 1-month history of a
rapidly enlarging painless right neck mass, preceded by blunt
cervical trauma from a 2-feet fall. The patient was evaluated by
his pediatrician and treated with amoxicillin without improve-
ment prior to initial presentation. On exam, a firm and fixed
mass was noted over the right angle of the mandible, without
any associated cervical lymphadenopathy or facial nerve
dysfunction. Initial ultrasound revealed a 5.5 × 3.3 × 4.4 cm
heterogeneous but solid appearing mass with high internal
vascularity and ill-defined borders. On CT scan, a
5.5 × 4.2 × 3.3 cm mass was seen inseparable from the right
parotid gland, abutting the stylomastoid foramen and traversing
the stylomandibular tunnel. The mass was mildly hyperintense
to skeletal muscle but hypointense to the parotid gland. Mass
effect was demonstrated on the cartilaginous external auditory
canal, the condylar head of the mandible anterosuperiorly and
carotid sheath structures posteriorly. There was no carotid
encasement or cervical lymphadenopathy (Fig. 1).
The patient underwent incisional biopsy and histology
revealed a bland spindle cell neoplasm with collagenous stroma.
The specimen stained positive for beta-catenin and Vimentin but
was negative for SMA, S-100, and Desmin (Fig. 2). Preliminary
diagnoses included nodular fasciitis versus fibromatosis, and the
pathological specimen was sent to an outside institution for
further review. There was significant interval growth after initial
incisional biopsy and the decision was made to proceed with total
parotidectomy and parapharyngeal space dissection for definitive
resection. Intraoperatively, the mass was found to encase the
main trunk of the facial nerve at the stylomastoid foramen. After
identifying all distal branches, the facial nerve was meticulously
Fig. 1 – Axial (A) and coronal (B) CT images of the right
parapharyngeal mass. The mass is slightly hyperintense to
muscle and hypointense to the parotid gland, traversing the
stylomandibular tunnel into the right parapharyngeal space.
The carotid artery is displaced medially.
dissected to the main trunk in a retrograde fashion. A small cuff
of tumor was left to preserve facial nerve continuity. A near-total
gross resection of tumor was performed (Fig. 3). Electrophysio-
logical response was observed with stimulation of the upper and
lower divisions of the facial nerve distal to the pes anserinus, but
not at the main trunk; however, the facial nerve was intact on
gross inspection. A diagnosis of desmoid fibromatosis was
confirmed on final pathology. In the immediate post-operative
period, the patient had a complete facial nerve paralysis, likely
secondary to neuropraxia. His facial nerve function recovered to a
House–Brackmann Grade II with good eye closure 1 month post-
operatively. The sole deficit noted at this time was residual
marginal mandibular nerve weakness. The patient was referred
for pediatric medical oncology evaluation to discuss possible
adjuvant chemotherapy. Serial MRI scans are planned for
continued surveillance.
3. Discussion
Head and neck desmoid fibromatosis is a rare soft tissue
neoplasm of fibroblasts with a propensity for local recurrence. It
represents 7%–15% of all cases and may be considered a distinct

Please cite this article as: Zheng Z, et al, Pediatric desmoid fibromatosis of the parapharyngeal space: A case report and review
of literature, Am J Otolaryngol–Head and Neck Med and Surg (2016), http://dx.doi.org/10.1016/j.amjoto.2016.02.003
 AMER IC AN JOURNAL OF OT OLA RYNGOLOGY–H E A D A N D NE CK M E D ICI N E AN D S U RGE RY X X (2 0 1 6) XXX –XXX
Fig. 2 – Histology. (A) Bland spindle cells haphazardly
arranged in a myxoid background. Mitoses and atypia are
absent. (B) The neoplastic cells demonstrated nuclear posi-
tivity for beta-catenin.
entity [1,2]. Kruse et al. [9] showed that 57% of all head and neck
fibromatosis occurred in children under age 11, and they may
present at a younger age compared to other anatomic sites, with
a median age of 3.6 years versus 7.8 [12]. No gender predilection
has been found [3,9]. Rare cases of malignant degeneration into
fibrosarcoma have been reported [9]. The etiology of desmoid
fibromatosis is unknown and is likely to be multifactorial. Genetic
Fig. 3 – Surgical specimen of the right parapharyngeal mass.
Please cite this article as: Zheng Z, et al, Pediatric desmoid fibromatosis of the parapharyngeal space: A case report and review
of literature, Am J Otolaryngol–Head and Neck Med and Surg (2016), http://dx.doi.org/10.1016/j.amjoto.2016.02.003
3
predisposition with somatic mutations in adenomatous
polyposis coli (APC) gene or β-catenin has been suggested
[1,2,5]. Spontaneous regression of tumor in females during
menarche and menopause and reports of response with anti-
estrogen therapy suggest a possible hormonal influence of tumor
growth [1,5]. Additionally, prior trauma and surgery have been
implicated as potential inciting factors [4].
Imaging findings of desmoid tumors are non-specific.
Features of malignant lesions, such as ill-defined borders,
infiltration of fat planes and muscles, and scalloping or
erosion of bone, may be seen [7]. On CT, lesions with high
collagen content have higher attenuation and enhancement.
On MRI, lesions are isointense to skeletal muscles on T1-
weighted images and hyperintense on T2-weighted images.
High signal intensity on T2-weighted images correlates with
increased cellularity, whereas low signal intensity areas
correlate with more collagen deposition [6,7]. Nevertheless,
imaging studies are essential in evaluating the extent of
disease and assisting in surgical planning. Involvement of
major vasculature, cranial nerves, brachial plexus, or the
aerodigestive tract should be noted.
For this particular patient, the initial differential diagnosis
based on imaging was lymphoma versus soft tissue tumor.
Although both fine needle aspiration (FNA) and core biopsies
have shown efficacy in the diagnosis of these pathologies, a
larger specimen is typically required for subtype and classify
the tumor for optimal management. Even with an open
biopsy, diagnosis for soft tissue tumors can be challenging.
The initial pathologic diagnosis for this patient was nodular
fasciitis, a benign entity that can spontaneously regress. The
decision was made to avoid upfront resection without
definitive diagnosis given risks to the facial nerve with
surgery and the efficacy of non-surgical management if the
diagnosis was lymphoma.
For fibromatosis in particular, FNA alone is often incon-
clusive for diagnosis. In a large case series of head and neck
fibromatosis, confirmation of diagnosis typically required
core or incisional biopsy [11]. Tumor architecture features
including thick walled vasculature and degenerate muscle
fibers at the periphery of the lesion are critical in establishing
the diagnosis [15].
Histologically, a monoclonal spindle cell neoplasm is seen
without atypia or dysplastic features. Differential diagnosis
may also include low-grade fibrosarcoma, leiomyosarcoma,
fibroma, leiomyoma, nodular fasciitis, and hypertrophic or
keloid scar [1,9]. Beta-catenin positivity is variable and not
disease specific [1,5]; however, nuclear beta-catenin staining
is a key distinguishing factor for diagnosis.
Two cases of pediatric parapharyngeal fibromatosis have
been previously described in the literature. Our patient is the
youngest with the largest tumor in this location. In one case,
complete remission was achieved with primary resection and
adjuvant chemotherapy for residual disease [2]. In a second
case, primary chemotherapy was initiated due to guardian
preference, and stable disease was achieved with two rounds
of chemotherapy. The patient subsequently required trache-
ostomy due to severe dysphagia and trismus [5].
Complete surgical resection is the primary treatment in
head and neck fibromatosis. However, involvement of vital
structures may preclude negative margins. In a small series,
4 AMER ICA N JOURNAL OF OT OLA RYNGOLOGY–H E A D A N D N E CK M EDI CI N E AN D S U RGE RY X X (2 0 1 6) XXX –XXX
7 of 8 pediatric patients with positive surgical margins had no
long-term progression of disease, and 1 patient with residual
macroscopic disease underwent spontaneous regression [5].
In a recent retrospective review of pediatric head and neck
fibromatosis in the past 60 years, Peña et al. [3] showed that
10/33 (30%) of patients with positive margins and 1/24 (2%)
with negative margins experienced a recurrence. Interesting-
ly, 18/33 (54%) of patients with positive margins did not have a
recurrence, although those who received adjuvant therapy
were not clearly identified. These data highlight a variable
disease course after surgical resection with positive margins.
In another review of pediatric fibromatosis of all anatomic
sites, higher recurrence was seen in patients with incomplete
surgical resections (16% recurrence with negative margins
versus 67% recurrence with positive margins), and adjuvant
therapy for residual disease reduced the rate of recurrence
from 74% to 40% [12]. No studies have examined the
relationship between macroscopic versus microscopic resid-
ual disease and prognosis. Overall, the disease course of head
and neck fibromatosis is variable, and there are conflicting
data on association of margin status and local recurrence
[1–3,5,10,12]. Many authors advocate for total gross resection
with preservation of function and cosmesis.
The efficacy of adjuvant radiation for residual or recurrent
disease in pediatric head and neck fibromatosis has not been
clearly demonstrated [1–3,5,8,11,12]. A high failure rate of
adjuvant radiotherapy in the pediatric population has been
reported in some studies [2]. The use of radiotherapy in the
head and neck region is limited by its associated morbidities,
especially in children due to concerns over long-term growth
and secondary malignancy. A prospective trial of radiation at
50–56 Gy in unresectable desmoid tumors for patients
16 years and older is currently ongoing [1]. Adjuvant chemo-
therapy may provide an alternative in the pediatric popula-
tion with better tolerability and safety. A regimen of
vinblastine and methotrexate has shown mixed results in
controlling tumor progression [1–3,5,8,12]. A prospective
study on the efficacy of vinblastine/methotrexate in pediatric
desmoid tumors of all anatomic sites demonstrated a
measureable response in 31% of patients, as defined by
radiographic reduction of tumor size by at least 25%.
Neutropenia was the most common toxicity [13]. Further-
more, adjuvant treatment with tamoxifen, NSAIDs, or tyro-
sine kinase inhibitors has shown anecdotal success [1–3,5,8].
However, a prospective trial of tamoxifen/NSAIDs (sulindac)
showed a lack of response in children [14]. Overall, interpre-
tation of these results is severely limited by the small number
of patients and heterogeneity of the disease, and prospective
randomized studies are greatly needed.
The majority of local recurrences present in the first
2 years [1,4,11,12]. Close follow up is recommended starting
3 months post-operatively in 3- to 6-month intervals, espe-
cially in patients with microscopic or macroscopic residual
disease. Appropriate imaging studies should be obtained
when recurrence is suspected clinically, and the risk of
radiation exposure of CT scans is weighed against the need
for sedation for MRI in younger children. Adjuvant therapy
may be considered on an individualized basis in recurrent or
Please cite this article as: Zheng Z, et al, Pediatric desmoid fibromatosis of the parapharyngeal space: A case report and review
of literature, Am J Otolaryngol–Head and Neck Med and Surg (2016), http://dx.doi.org/10.1016/j.amjoto.2016.02.003
rapidly progressive disease; however, prospective studies are
needed to validate their efficacy.
4. Conclusion
Desmoid fibromatosis of the head and neck is an exceedingly
rare disease entity, and pediatric type is even more infre-
quent. It poses a special treatment challenge given the
intricate anatomy of the head and neck region. Surgical
excision with clear margins remains the mainstay of treat-
ment; however, preservation of function and vital structures
is also an important consideration. Further prospective
studies are needed to establish a clear role for adjuvant
treatment for recurrent or progressive disease.
REFERENCES
[1] De Bree E, Zoras O, Hunt JL, et al. Desmoid tumors of the head
and neck: a therapeutic challenge. Head Neck 2013;36:1517–26.
[2] Wang W, Koirala U, Ma S, et al. Age-based treatment of
aggressive fibromatosis in the head and neck region. J Oral
Maxillofac Surg 2014;72:311–21.
[3] Peña S, Brickman T, StHilaire H, et al. Aggressive fibromatosis
of the head and neck in the pediatric population. Int J Pediatr
Otorhinolarygol 2014;78:1–4.
[4] Collins BJ, Fischer AC, Tufaro AP. Desmoid tumors of the
head and neck. Ann Plast Surg 2005;54:103–8.
[5] Sharma A, Ngan B, Sandor G, et al. Pediatric aggressive
fibromatosis of the head and neck: a 20-year retrospective
review. J Pediatr Surg 2008;43:1596–604.
[6] Rhim JH, Kim J, Moon KC, et al. Desmoid-type fibromatosis in
the head and neck: CT and MR imaging characteristics.
Neuroradiology 2013;35:351–9.
[7] Hourani R, Taslakian B, Shabb NS, et al. Fibroblastic and
myofibroblastic tumors of the head and neck: comprehensive
imaging-based review with pathological correlation. Eur J
Radiol 2015;84:250–60.
[8] Soto-Miranda MA, Sandoval JA, Rao B, et al. Surgical
treatment of pediatric desmoid tumors. A 12-years, single-
center experience. Ann Surg Oncol 2013;20:3384–90.
[9] Kruse AL, Luebbers HT, Gratz KW, et al. Aggressive fibromatosis
of the head and neck: a new classification based on a literature
review over 40 years. Oral Maxillofac Surg 2010;14:227–32.
[10] Wang CP, Chang YL, Ko JY, et al. Desmoid tumor of the head
and neck. Head Neck 2006;28:1008–13.
[11] Hoos A, Lewis JJ, Urist MJ, et al. Desmoid tumors of the head and
neck—a clinical study of a rare entity. Head Neck 2000;22:814–21.
[12] Buitendijk S, Van De Ven CP, Dumans TG, et al. Pediatric
aggressive fibromatosis: a retrospective analysis of 13
patients and review of the literature. Cancer 2005;104:1090–9.
[13] Skapek SX, Ferguson WS, Granowetter L, et al. Vinblastine and
methotrexate for desmoid fibromatosis in children: results of a
Pediatric Oncology Group phase II trial. J Clin Oncol 2007;5:501–6.
[14] Skapek SX, Anderson JR, Hill DA, et al. Safety and efficacy of
high-dose tamoxifen and sulindac for desmoid tumor in
children: results of a Children's Oncology Group (COG) phase
II study. Pediatr Blood Cancer 2013;60:1108–12.
[15] Flucke U, Tops BBJ, Van Diest PJ, et al. Desmoid-type
fibromatosis of the head and neck region in the paediatric
population: a clinicopathological and genetic study of seven
cases. Histopathology 2014;64:769–76.