Dentomaxillofacial Radiology (2008) 37, 52–57

’ 2008 The British Institute of Radiology

http://dmfr.birjournals.org

CASE REPORT
Giant facial haematoma in neurofibromatosis type 1
ZJ Sun1,2, YF Zhao1, SP Wang3 and SG He*,1,2
1
Department of Oral and Maxillofacial Surgery, Wuhan University, Hubei, China; 2Key Laboratory for Oral Biomedical
Engineering of the Ministry of Education, Wuhan University, Hubei, China; 3Department of Oral Radiology, School and Hospital of
Stomatology, Wuhan University, Hubei, China

Neurofibromatosis type 1 (NF1) is an inherited autosomal dominant disorder. Haematoma is

an unusual complication of neurofibromatosis and extremely rare in the maxillofacial region.
A case of haematoma in NF1 of the left face is presented. MR images of acute haematoma in
NF1 and radiographic features of the mandible are described. Stenosis of the internal jugular
vein was noted in MR angiography (MRA). Surgical resection of the tumour and evacuation
of blood clots were performed. Histological and immunohistochemical examination
demonstrated that the neurofibroma tumour cells infiltrated the mural layer of vessels
without malignant translation. MRI is a good choice for depicting haematoma in
neurofibromatosis. Intratumour haemorrhage may result from the infiltration of vessels
into the lesion and minor trauma on the affected area.
Dentomaxillofacial Radiology (2008) 37, 52–57. doi: 10.1259/dmfr/89572785

Keywords: neurofibromatosis type 1; haematoma; magnetic resonance imaging; computed

tomography; panoramic radiography

Introduction

Neurofibromatosis type 1 (NF1, von Recklinghausen’s
disease) is an inherited autosomal dominant disorder. It is
the most common subtype of neurofibromatosis, with a
prevalence of 1 in 2200 to 3000 births.1 Haematoma
occurring spontaneously or after minimal trauma is a
rare complication of neurofibromatosis and has been
documented in the scalp, chest and limbs,2,3 but is
extremely unusual in the maxillofacial region.4 We
present a case of haematoma in a patient with NF1 and
describe the radiographic features and MR images.
Case report
A 55-year-old Chinese man presented to the emergency
room with a fast-growing mass on the left facial region.
The patient was diagnosed as NF1 when he was
13 years old. He suffered from a minimal trauma on
the left cheek 3 days prior to admission. No symptoms
were noticed at that time; the mass formed suddenly
over 5 min duration at night. The patient felt a
transient dizziness and dyspnoea. Physical examination
*Correspondence to: Dr San-Gang He, Department of Oral and Maxillofacial
Surgery, School and Hospital of Stomatology, Wuhan University, 237 Luo Yu
Road, Wuhan, Hubei, China 430079; E-mail: sangang@public.wh.hb.cn
Received 29 August 2006; revised 27 January 2007; accepted 8 March 2007
showed a mass measuring 1261066 cm in the left
facial region, extending from the left eyebrow to the
submandibular region (Figure 1). The mass was tender
and uncompressible on palpation; neither bruit nor
pulse were found. The patient was moderately limited
in opening his mouth (1.5 cm). A bluish color in the
buccal mucosa was noted. Widespread skin neurofi-
bromas and café au lait spots were noted on the body.
A panoramic radiograph demonstrated a radiolucent
image measuring 561.5 cm in the angle of the left
mandible with an irregular sharp border (Figure 2).
Increased dimensions and inferior displacement of the
left coronoid notch were noted. Lengthening and
narrowing of the left coronoid and condylar processes
was found. The left mandibular angle was radiolucent and
deformed. CT demonstrated a well-defined homogeneous
high-density image measuring 11.566.169.9 cm in the
outside of the left mandible with focal intermediate
density image (Figure 3). The CT value for the central
lesion of the mass was approximately 80 Hounsfield units
(HU). Cystic changes were noted posterior to the lesion.
To further characterize the mass, MR images were
obtained on the third day after the mass had formed
using a 1.5 T MR scanner (Eclipse; Marconi Medical
Systems, Cleveland, OH). Spin echo axial T1 weighted
image (echo time (TE) 5 12.0 ms, repetition time
(TR) 5 473 ms) and fast-spin echo T2 weighted images
 Giant facial haematoma
ZJ Sun et al 53

Figure 3 Axial plain CT shows a well-marginated heterogeneous

Figure 1 Clinical photograph of a giant circumscribed mass on the dense image on the outer side of the left mandible. Cystic changes are
left side of the face and neurofibromas on the scalp (arrow) noted posterior to the lesion

(TE 5 84.0 ms, TR 5 4000 ms) were obtained in the
axial, coronal and sagittal planes. A kidney-shaped
mass appeared to be juxtaposed between the left
mandible and subcutaneous tissue, approaching the
level of the skull base and the base of the tongue. The
left parotid gland was displaced and compressed in the
posterior direction. T1 weighted images revealed that
the central area of the mass was non-uniform and
isointense relative to muscles with focal high signal
intensity within the lesion (Figure 4a). The peripheral
part of lesion was slightly hyperintense compared to the
central area and it was surrounded by a discontinuous
low signal intensity layer in the anterior and internal
direction (Figure 4a). Cystic change posterior to the
mass, which was relatively hypodense on CT, revealed
hypointensity on T1 weighted MR images (Figure 4a).

Figure 2 Panoramic radiograph demonstrated a radiolucent image in the angle of left mandible with irregular border (white arrows). Increase of
coronoid notch dimension and lengthening and narrowing of the left condylar process are also noted (black arrow)

Dentomaxillofacial Radiology
 Giant facial haematoma
54 ZJ Sun et al

a b

c d
Figure 4 MR Images. (a) Axial T1 weighted image shows the central area of the lesion as heterogeneously isointense with focal high signal
intensity. The tumour was of low to intermediate signal intensity (black arrows). (b) Axial T2 weighted image shows the central area of the mass as
having heterogeneous intermediate signal intensity (white arrow) and the periphery of the lesion to have high signal intensity and an unclear
margin. Cystic lesions with significant high signal intensity are seen posterior to the lesion (black arrow). (c) Homogeneous enhancement, mainly
in the peripheral (black arrows) rather than central parts of the lesions, is noted after contrast medium administration. (d) Fat-suppressed T2
weighted image reveals signal hyperintensity without significant signal loss

T2 weighted images indicated that the central area of
the mass was of heterogeneous intermediate signal
intensity and the periphery of the lesion was of high
signal intensity with an unclear margin (Figure 4b).
Cystic lesions with strong hyperintensity similar to fat
were seen posterior to the lesion. Homogeneous
enhancement of the peripheral part of the lesion was
noted on axial T1 weighted images (TE 5
12.0 ms, TR 5 493 ms) after Gd-DTPA injection, while
the signal of the central portion was not enhanced
(Figure 4c). On T2 weighted fast-spin echo images with
fat suppression (TE 5 84 ms, TR 5 3000 ms, flip angle

Dentomaxillofacial Radiology

a b
Figure 5 MR angiography images exhibit (a) arterial angiography and (b) stenosis of the internal jugular vein (white arrow)
(FA) 5 90 ˚), no significant signal loss was seen. No
abnormality of the central nervous system was observed
(Figure 4d). No associated dysplasia of the arteries was
noted in MR angiography (MRA) (Figure 5a), while
stenosis of the internal jugular vein was noted
(Figure 5b). From these findings, a presumptive diag-
nosis of acute haematoma in neurofibromatosis was
made.
The treatment modality included pre-operative
haemostasis and surgical resection. The surgical resec-
tion of the neurofibroma was performed after ligation
of the branch of the external carotid artery under
general anaesthesia and controlled hypotension. During
the operation, a haematoma with an approximately
Figure 6 Haematoma and blood clot in the tumour during the
operation
Giant facial haematoma
ZJ Sun et al 55
400 ml dark-red blood clot was evacuated from the
fragile tumour (Figure 6). No significant capsule of the
haematoma was seen during the operation. Cystic
changes of the tumour with a dark-brown coloured
liquid was seen posterior to the lesion. The neurofi-
broma, measuring 126966 cm, was completely
resected. Total intraoperative blood loss was 1100 ml
and the patient was sufficiently transfused with 600 ml
of red blood cells. No recurrence was found in a follow-
up 24 months after surgery.
Subsequent histological examination confirmed
plexiform neurofibroma without malignancy.
Haemorrhage in the tumour was found (Figure 7).
Immunohistochemically, the reactivity to S-100 protein
Figure 7 Histological findings reveal haemorrhage in the neuro-
fibroma (haematoxylin and eosin, original magnification, 640)
Dentomaxillofacial Radiology
 Giant facial haematoma
56
Figure 8 Immunohistochemical findings of the lesion. (a) The S-100 positive neurofibroma cells infiltrate the large muscular vessels (solid arrow)
(immunoperoxides, original magnification, 61.0). (b) The reactivity to a-smooth muscle actin illustrates the destruction of mural layer (solid
arrow) (immunoperoxides, original magnification, 61.0). Black arrows show neurofibroma, white arrows show medium-sized blood vessel
demonstrated that the neurofibroma tumour cells
infiltrated the mural layer of vessels (Figure 8a). The
reactivity for a-smooth muscle actin proved the destruc-
tion of the mural layer and multiple small muscular
vessels in tumour cells (Figure 8b).
Discussion
MRI is the preferred imaging modality for depicting
neurofibromas.4,5 The peripheral part of the lesion in
this case demonstrated typical MR characters of neuro-
fibromas: homogeneous isointensity or mild hyperin-
tensity compared with muscle on T1 weighted images,
homogeneous enhancement of the solid component of
the tumour and heterogeneous high intensity on T2
weighted images.5 Tumours tend to enhance intensely
following contrast administration.5 MR images of
neurofibromatosis with haematoma in the head and
neck have only been presented rarely.4 MR images of
such haematomas vary due to the clot’s age, size and
oxygenation.6,7 In the first 24 h following the onset,
haematoma is usually present with hypointensity on T1
weighted images and hyperintensity on T2 weighted
images because the haematoma is composed of fresh
blood and deoxyhaemoglobin.6 In the next 6 days
after onset of acute haematoma, the signal intensity
increases on T1 weighted images and remains hyper-
intense on T2 weighted images because of the collection
of deoxyhaemoglobin and methaemoglobin. In this
case, methaemoglobin presented high signal intensity
interspersed among the intermediate signal intensity
deoxyhaemoglobin on T1 weighted images.6,7 The MRI
findings of this case were compatible with acute
haematoma in NF1. The cyst in the posterior region
of the lesions on T2 weighted images represented
the liquefactive necrosis of the neurofibroma. On
Dentomaxillofacial Radiology
ZJ Sun et al
post-contrast T1 weighted images, homogeneous
enhancement was believed to be due to the neurofi-
bromatosis, while the haematoma and liquefaction in
the neurofibromatosis were not enhanced.
In a case of neurofibromatosis with a rapidly grow-
ing mass, the possibility of a malignant transformation
should be considered. The risk of malignant transfor-
mation is about 3–14%, with a latency period of about
10–20 years.8 Diagnosis of malignancy is complicated
by the fact that benign neurofibromas often grow and
may be painful, particularly in response to trauma.
MRI does not reliably distinguish malignant from
non-malignant tissue within a neurofibroma.8 Both
malignant and benign neurofibromas are relatively
homogeneous and intermediate in signal intensity on
T1 weighted images, but often heterogeneous on T2
weighted images and surrounded by high signal
intensity. In the present case, the MR images of the
haematoma formation in the neurofibroma made it
easy to recognize, while malignant transformation of the
neurofibroma could not be excluded by MR images.
The pathological findings helped to exclude malig-
nancy.
About 30–70% of NF1 patients have associated
osseous changes.9–11The pattern of jaw malformation
can be caused by tumour invasion or destruction.11 NF-
related bone changes such as an increased dimension of
the left coronoid notch, deformed condyle and gonial
process, shortening of the ascending ramus, decreased
mandibular angle and cyst-like lesions were found in
the present case.9–11 Other radiographic characteristics
including enlargement of mandibular foramen, increase
in bone density and impacted teeth have also been
reported,9 but were not noted in this case.
Vascular abnormalities are well recognized in NF1
and frequently seen in the cerebral, renal, gastrointest-
inal and coronary vessels.12–14 Vascular abnormalities
in NF1 such as stenosis or occlusion of major arterial

vessels, arteriovenous malformations and aneurysms
are well demonstrated with MRA or contrast-enhanced
dynamic MRA.12,13 The venous stenosis is rarely
mentioned in the literature. The stenosis of the left
internal jugular vein in this case may reflect the
compression by the haematoma in NF1. Pathogenesis
of vascular disease associated with NF1 is still
uncertain. Vascular fragility caused by the NF1
associated vessel dysplasia, neurofibromatous venous
invasion and aneurysm formation have been advocated
for the intratumour bleeding and haematoma forma-
tion of NF1.13,14 In this case, we observed destruction
of the mural layer of vessels by immunohistochemical
staining. The massive haemorrhage in this case could
have been caused by destruction of these vessels.
Attenuated platelet sensitivity to collagen in patients
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Dentomaxillofacial Radiology