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[Eye Reports 2012; 2:e1] [page 1]

Rhabdomyosarcoma mimicking
lymphangioma:
report of three cases
Silvana Guerriero,1 Lorenza Ciracì,1

Ermete Giancipoli,1 Maria Grazia Fiore,2

Domenico Piscitelli2
1Department of Ophthalmology;
2Department of Pathology, University 
of Bari, Italy

Abstract 

We report three cases of proptosis, in chil-
dren aged 6, 10 and 12, whereby in all cases
the first clinical, radiologic and ultrasono-
graphic diagnosis was lymphangioma, while
the final anatomopathological diagnosis was
rhabdomyosarcoma. In presence of a rapidly
worsening exophthalmos or eyelid swelling in
a child, an early correct diagnosis is very
important. Imaging techniques play a very
important role in the diagnosis, but are often
inconclusive and an excisional biopsy (if feasi-
ble) must always be considered.

Introduction

In presence of a rapidly worsening exoph-
thalmos or eyelid swelling in a child, an early
correct diagnosis is very important.
Differential diagnosis must include many
orbital pathologies: inflammatory lesions such
as orbital cellulitis, idiopathic inflammatory
orbital pseudotumor, conjunctivitis, and aller-
gic edema, and tumors such as orbital capillary
hemangioma, lymphangioma, neuroblastoma,
Langerhan’s cell histiocytosis and rhab-
domyosarcoma. The severity of these diseases
is different, as well as the therapeutic inter-
vention and course of the disease Imaging
techniques like computed tomography (CT),
magnetic resonance imaging (MRI) and ultra-
sonography play a very important role in the
diagnosis, but are often inconclusive.

Between March 2007 and April 2008, three
pediatric patients were admitted to our unit. In
all three cases imaging findings suggested the
diagnosis of a lymphangioma, but only an exci-
sional biopsy led to a definitive diagnosis of
rhabdomyosarcoma in all cases.

Case Reports

Case #1
An otherwise healthy 6-year-old Caucasian

boy was referred to our unit for surgical
removal of a presumed chalazion in the inferi-
or right eyelid (Figure 1A).

Due to rapid worsening of the eyelid
swelling, we performed B-scan ultrasonogra-
phy, which revealed a solid, well-defined mass
with a medium-low internal reflectivity, low
ultrasound attenuation and signs of internal
vascularization (Figure 1B).

CT of the orbit showed a solid mass in the
medial-inferior part of the orbit, that appeared
homogeneous and hyperdense after contrast
enhancement. The lesion infiltrated the orbital
soft tissues but spared the orbital bones
(Figure 1C and 1D). A new diagnosis of orbital
lymphangioma was suggested by radiologist.

The patient underwent trans-eyelid excision
of the mass (Figure 2) under general anesthe-
sia. The pathologic result was a solid variant of
embryonal rhabdomyosarcoma; striated mus-
cle fibers were evident between sheets of poor-
ly differentiated round tumoral cells that
showed hyperchromic nuclei and scarce cyto-
plasm (Figure 3).

Chemotherapy with cyclophosphamide, acti-
nomycin D and vincristine sulfate and succes-
sive radiotherapy (40 Gy) were instituted. The
child continued to demonstrate complete
tumor regression at two years follow-up. He
developed cataract as a late effect of the radio-
therapy, and was successfully operated. His
final visual acuity was 20/20.

Case #2 
An otherwise healthy 10-year-old Caucasian

boy was referred to our unit with a one month
history of exophthalmos in his left eye (Figure
4A).

Orbital B-scan ultrasonography revealed a
solid extraconic neoformation involving the
medial segment of the left orbit, 2 cm across
and 3.5 cm long, well-defined against the sur-
rounding tissues, with a hyporeflective,
dyshomogeneous internal reflectivity owing to
the presence of septa (Figure 4B).

Orbital CT scans revealed a well-defined
lesion with clear margins in the medial seg-
ment of the left orbit, causing lateral displace-
ment of the optic nerve and eye. The lesion
showed several chambers, which were more
evident after contrast enhancement (Figure
4C). T2-weighted MRI images disclosed irreg-
ular isointense tissue with an isointense
peripheral rim and some central areas with
hyperintense signal. On T1-weighted gadolini-
um-enhanced images the central area of the
mass was hypointense. A peripheral hyperin-
tense rim was evident, as well as thin septi
dividing the central cystic area, but no fluid
levels were present (Figure 4D) These find-
ings were suggestive of lymphangioma con-
taining proteinaceus fluid or hemorrhage.

Since these findings were suggestive of lym-
phangioma containing proteinaceous fluid,
watchful waiting seemed advisable but 15 days
later, worsening of the proptosis made it neces-
sary to perform an excisional biopsy (Figure 5).

We performed an anterior trans-eyelid exci-
sional biopsy of the mass under general anes-
thesia. Intraoperatively, a multicystic encapsu-
lated pink mass with a whitish internal fluid
was found. Near-total excision of the mass was
performed (Figure 5). Total excision of the
mass was not possible because the mass
extended posteriorly toward the orbital apex.
These findings continued to suggest the diag-
nosis of a lymphangioma. However, the patho-
logic result was a solid alveolar rhabdomyosar-
coma. Histology showed sheets of poorly differ-
entiated round tumoral cells with hyper-
chromic nuclei and scarce cytoplasm. Several
atypical mitoses were present (Figure 6).

Chemotherapy with cyclophosphamide, acti-
nomycin D and vincristine sulfate and succes-
sive radiotherapy (40 Gy) were instituted. The
child continued to demonstrate complete
tumor regression at two years follow-up. He
developed cataract as a late effect of the radio-
therapy. His visual acuity is now 10/20.

Case #3
An otherwise healthy 12-year-old Caucasian

boy was referred to our unit with a 20-day his-
tory of eyelid edema (Figure 7A).

We performed B-scan ultrasonography,
which revealed a poorly-defined extra-conic
solid mass located in the anterior upper seg-
ment of the right orbit, 3.0 cm across, with
minor alterations at ultrasound, and a medi-

Eye Reports 2012; volume 2:e1

Correspondence: Silvana Guerriero, Università
degli Studi di Bari, Piazza G. Cesare, 11, 70124
Bari, Italy.
Tel. +39.080.5478.7916 - Fax: +39.080.5478.918.
E-mail: silvanaguerriero@gmail.com

Key words: rhabdomyosarcoma, lymphangioma,
magnetic resonance imaging, computed tomog-
raphy, sonography.

Conflict of interest: the authors declare no poten-
tial conflicts of interests.

Received for publication: 9 April 2011.
Revision received: 21 December 2011.
Accepted for publication: 22 December 2011.

This work is licensed under a Creative Commons
Attribution NonCommercial 3.0 License (CC BY-
NC 3.0).

©Copyright S. Guerriero et al., 2012
Licensee PAGEPress, Italy
Eye Reports 2012; 2:e1
doi:10.4081/eye.2012.e1

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[page 2] [Eye Reports 2012; 2:e1]

um-low internal reflectivity (Figure 7B).
CT scans demonstrated a lobular non-encap-

sulated mass, featuring the same density as
the extra-ocular muscles, well-defined against
the surrounding soft tissues, with diffuse con-
trast enhancement (Figure 7C and 7D).

We performed an anterior trans-eyelid exci-
sional biopsy of the mass under general anes-
thesia (Figure 8). Histology showed a cell pop-
ulation consisting of small, round tumor cells
with hyperchromatic nuclei and of large, poly-
gonal-shaped tumor cells with abundant
eosinophilic cytoplasm, which often contained
cross striations, alternating with areas of club-
shaped tumor cells arranged in clumps and
outlined by fibrous septa. In the center, the
clusters were arranged loosely, and therefore,
they appear in an alveolar pattern. These cells
stained intensely with eosinophilic stain.
Cross-striated malignant rhabdomyoblasts
were observed. The pathologic result was
mixed embryonal and alveolar rhabdomyosar-
coma (Figure 9).

Chemotherapy with cyclophosphamide, acti-
nomycin D and vincristine sulfate and succes-
sive radiotherapy (40 Gy) was instituted. The
child continued to demonstrate complete
tumor regression at two years follow-up. He
developed cataract as a late effect of the radio-
therapy, and his visual acuity is now 10/20.

In all three cases the subsequent histopatho-
logic examination disclosed undifferentiated
small round cells with hyperchromatic nuclei, a
high nuclear-to-cytoplasmic ratio, and a brisk
mitotic activity. Immunohistochemistry demon-

strated intense immunoreactivity to smooth
muscle actin and desmin. These findings led to
a definitive diagnosis of rhabdomyosarcoma in
all three cases: a solid alveolar rhabdomyosar-
coma in the first case, an embryonal rhab-
domyosarcoma in the second, and a mixed
embryonal and alveolar rhabdomyosarcoma in
the last case.

Discussion

In the presence of exophthalmos during
examination in a child, the examiner must be
extremely careful to differentiate between var-
ious pathologies with a different severity:
inflammatory lesions such as orbital cellulitis,
idiopathic inflammatory orbital pseudotumor,
conjunctivitis, and allergic edema, and tumors
such as orbital capillary hemangioma, lym-
phangioma, neuroblastoma, Langerhan’s cell
histiocytosis and rhabdomyosarcoma. Most of
these conditions can be differentiated by clini-
cal history taking and examination, but orbital
lymphangioma may prove to be more challeng-
ing to differentiate from rhabdomyosarcoma. 

Important elements of differential diagnosis
to consider during the orbital exam are: uni or
bilateral exophthalmos, the type of progres-
sion, slow or rapid, the reducibility, and
whether there is pulsatility. The orbital edge
must be palpated to look for a mass; the pres-
ence of a palpebral redness or thickness orien-
tates towards an orbital cellulitis or a rhab-

domyosarcoma, modification of the eyelid
colour when the child cries orientates towards
a capillary haemangioma. A rapidly worsening
bilateral exophthalmus, if associated with
periorbital ecchymosis, is suggestive of a
metastatic neuroblastoma, the most common
malignant tumor in a child under the age of
five. An orbital mass may be a metastasis of a
primitive tumor (10% of cases) located in the
retroperitoneal space or in the mediastinum or
else a primitive adrenal tumor. A history of
orbital pain or headache is more suggestive of
an orbital cellulitis. The fundus oculi must be
systematically inspected, looking for an optic
oedema, optic atrophy, or choroid folds. Other
functional restrictions, in particular a reduc-
tion of visual acuity and a visual fields deficit,
are quite difficult to determine, especially in a
child. The physical examination is also very
important: coffee and milk spots suggest
Recklinghausen’s disease. Coloured lesions of
the skin could also be present in other dis-
eases, such as histiocytosis and capillary hae-
mangioma. However, in presence of a rapidly
worsening and painless exophthalmos, we
must always suspect a rhabdomyosarcoma.

Rhabdomyosarcoma is a rare childhood
tumor, with an annual incidence of 4.3 cases
per million children.1 The orbit is the primary
site in approximately 10% of these tumors.2

The most frequent clinical findings in patients
with ophthalmic rhabdomyosarcoma are prop-
tosis (79%), globe displacement (79%), eyelid
edema (64%), and conjunctival congestion
(61%).3

Orbital lymphangioma is an uncommon
benign cystic lesion generally manifesting in
childhood. It accounts for about 1% of orbital
tumors, with no gender preference.3 It usually
presents with a slowly progressive proptosis,
displacement of the globe, ptosis and restric-
tion of eye movements. Occasionally, focal
lesions may remain asymptomatic.
Spontaneous intraorbital hemorrhage may
cause acute proptosis, compressive optic neu-

Brief Report

Figure 1. A) Swelling of the right inferior eyelid (arrow). B) B-scan ultrasonography
revealed a solid, well defined mass, with low-medium internal reflectivity (arrow). C) and
D) CT scans showed a solid mass in the medial-inferior part of the orbit (arrow).

Figure 2. Excisional biopsy (arrow showing
the mass).

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[Eye Reports 2012; 2:e1] [page 3]

ropathy and loss of vision.4

Rhabdomyosarcoma occurs in patients of
the same age group as those with lymphan-
gioma, and both diseases cause painless, non-
inflammatory proptosis, developing over a
short time. Differentiation by orbital imaging
is usually helpful and shows a solid enhanced
mass with rhabdomyosarcoma versus a multi-
cystic non-enhanced mass with lymphan-
gioma. However, in rare cases, rhabdomyosar-
coma can display cavitation, appearing similar
to lymphangioma.3 The differentiation
between rhabdomyosarcoma and lymphan-
gioma seems to be quite challenging because
of the frequent overlap of both clinical and
radiological aspects of these pathologies. Only
the histopathologic examination can confirm
the diagnosis. Many other similar cases have
been reported in the literature (Table 1):
Seedat et al. presented a patient with acute
sinusitis whose CT scan showed a ring-
enhancing lesion within the orbit typical of an
orbital subperiosteal abscess. On exploration
of the orbit, there was no pus present but a
tumour was found, which on histological
examination was found to be a rhabdomyosar-
coma.5 Fetkenhour et al. described a healthy 4-
year-old girl who presented with an abrupt-
onset proptosis of her right eye with a mild
painless swelling of the right upper eyelid dur-
ing the previous 3 weeks. MRI showed a super-
onasal heterogeneous soft tissue mass with no
bone erosion. On T1-weighted gadolinium-
enhanced images, the central area of the mass
was hypointense, suggestive of proteinaceous
material. A peripheral hyperintense rim indi-
cated vascularized tissue. There was a thin
septum dividing the central cystic area, but
fluid-fluid levels were not seen. Diagnosis of
lymphangioma was favored in light of the rapid
development of proptosis, dilated conjunctival
lymphatics, subcutaneous ecchymosis, and the
presence of presumed cystic, rather than solid,
structures on MRI. But histopathologic exami-
nation disclosed undifferentiated small round
cells with hyperchromatic nuclei, high nuclear-
to-cytoplasmic ratio, and brisk mitotic activity.

Brief Report

Figure 3. Histology (x100, with hematoxylin and eosin staining, scale bar: 100 μm)
showed a solid variant of embryonal rhabdomyosarcoma; striated muscle fibers (arrow)
are evident between sheets of poorly differentiated round tumoral cells, that show hyper-
chromic nuclei and scarce cytoplasm.

Figure 4. A) Left exophthalmos (arrow). B) B-scan ultrasonography of the mass (arrow).
C) CT scans revealed a well-defined lesion with clear margins in the medial segment of the
left orbit (arrow). D) MRI revealed a homogeneous aspect of the mass, isointense with the
extraocular muscles, and a multitude of internal micro-chambers; a strong enhancement
of the lesion was observed after intravenous gadolinium administration (arrow).

Figure 5. Anterior trans-eyelid excisional
biopsy of the mass (the arrow shows the
mass).

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Immunohistochemistry demonstrated intense
immunoreactivity for smooth muscle actin and
desmin. These findings confirmed the diagno-
sis of rhabdomyosarcoma.6 Burkat et al.
described a case of a rhabdomyosarcoma mas-

querading as heterogeneous soft tissue mass
with no bone erosion. On T1-weighted gadolin-
ium-enhanced images, the central area of the
mass was hypointense, suggestive of proteina-
ceous material. A peripheral hyperintense rim

indicated vascularized tissue, presenting with
right medial canthal swelling. The patient was
initially diagnosed with dacryocystitis and
treated with oral antibiotics, followed by inci-
sion and drainage of a presumed lacrimal sac
abscess. Rapid recurrence of the swelling led
to further clinical evaluation, including a max-
illofacial CT, which revealed an extensive nasal
and orbital mass that was consistent with
embryonal rhabdomyosarcoma on histopatho-
logic analysis.7 Lazaridou et al. described a
case of orbital rhabdomyosarcoma masquerad-
ing as a lacrimal mucocele in a newborn
infant.8 On the other hand, Cota et al.
described an orbital abscess in a 6-year-old boy
masquerading as a rhabdomyosarcoma9

In our case series, an expert sonographer
and three different expert radiologists made
an initially incorrect diagnosis in all cases.
Usually, on ultrasonographical examinations,
rhabdomyosarcoma appears as a solid homo-
geneous mass, with moderate reflectivity and
mild sound attenuation.10 Sometimes septa
can be seen separating different reflectivity
structures. Blood flow is often detectable, and
bone erosion is sometimes present.

On CT scans, rhabdomyosarcoma appears as
a solid, defined, homogeneous formation, iso-
dense to the skeletal muscles, with a regular
internal structure, and moderate enhancement
after contrast administration. In most cases
the bone is spared, and only in more evolved
forms is bone thinning or erosion present.
Sometimes CT scan shows micro internal
vaults.11 On T1-weighted MRI, rhabdomyosar-
coma may appear hypointense with respect to
the orbital fat. On proton density and T2-
weighted MRI, hypointensity, isointensity, and
even hyperintensity may be appreciable with
respect to both the extraocular muscles and
the orbital fat.12

Imaging of lymphangioma often shows a
multicystic mass with lobular margins. Inside
the cyst an air-fluid level is often present. On
MRI, lymphangioma shows hypointensity to
the vitreous in T1 weighted images and hyper-
intensity in T2. The lymphangioma rim may be

Brief Report

Figure 8. Excisional biopsy.

Figure 7. A) Left eyelid edema (arrow). B) B-scan ultrasonography: peribulbar section
showing a poorly-defined extra-conic solid mass (arrow) located in the anterior upper
segment of the right orbit-the eye is not visible. C) and D) CT scans showed a lobular
non-encapsulated mass (arrow), featuring the same density as the extra-ocular muscles.

Figure 6. Histology (x400, with hematoxylin and eosin staining, scale bar: 50 μm) showed
a solid variant of alveolar rhabdomyosarcoma, with sheets of poorly differentiated round
tumoral cells that show hyperchromic nuclei and scarce cytoplasm (big arrow). Several
atypical mitoses are present (small arrow).

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[Eye Reports 2012; 2:e1] [page 5]

minimally enhanced.13

In all three of our cases, the lesion present-
ed as an oval mass with clear margins, without
any evidence of bone erosion. Orbital struc-
tures adjacent to the lesion were compressed
and displaced but not infiltrated. Enhancement
after contrast medium on CT in all cases
showed a diffuse and patchy impregnation,
more accentuated at the periphery of the
lesion. In all lesions, imaging showed the pres-
ence of internal vaults that were particularly
evident after the injection of contrast medium.
These findings led to a diagnosis of lymphan-
gioma, but this was not confirmed by histology.

Diagnostic imaging is useful to determine
the location, size, and relationship with other
orbital structures, as well as bone erosion and
intracranial extension, but often ultrasono-
graphic13 and radiological4-10 characteristics of
different pathologies overlap and thus do not
allow a clear diagnosis. Imaging techniques
are an important aid in the diagnosis of orbital
pathologies, but are often inconclusive. 

Management should be based first of all on
clinical findings, and imaging findings should
be treated with some care. The appropriate
diagnosis of orbital rhabdomyosarcoma
requires close cooperation and communication
between the radiologist and the ophthalmolo-
gist. Rhabdomyosarcoma should be suspected

Brief Report

Figure 9. Histology (x100, with hematoxylin and eosin staining, scale bar: 100 μm)
showed large and poorly differentiated cells infiltrating orbital fat (arrow).

Table 1. Comparison of suspected diagnosis and imaging with the final histological diagnosis, of cases reported in the literature and
the cases described in this paper.

Author Suspected diagnosis Imaging Final diagnosis 

Seedat et al.5 Suspected subperiosteal abscess in a CT scan: ring-enhancing lesion within the orbit typical Rhabdomyosarcoma
patient with acute sinusitis of an orbital subperiosteal abscess.

Fetkenhour et al.6 Suspected lymphangioma in a patient with MRI: heterogeneous soft tissue mass with no bone Rhabdomyosarcoma
proptosis of her right eye and painless erosion and internal septa
swelling of the right upper eyelid MRI T1- images: the central area of the mass was

hypointense, suggestive of proteinaceous material
and a peripheral hyperintense rim indicated
vascularized tissue

Burkat et al.7 Suspected dacryocystitis in a patient with MR-enhanced images: the central area of the mass Rhabdomyosarcoma
swelling in the right medial canthus was hypointense, suggestive of proteinaceous material,

and a peripheral hyperintense rim indicated
vascularized tissue

Lazaridou et al.8 Suspected lacrimal mucocele in a newborn CT: homogenously hypodense mass Rhabdomyosarcoma
patient with epiphora and swelling below
the left medial canthus

Our case #1 Suspected chalazion or lymphangioma in CT: solid mass in the medial-inferior part of the orbit, Rhabdomyosarcoma
a patient with left inferior eyelid swelling homogeneous and hyperdense after contrast

enhancement
Our case #2 Suspected lymphangioma in a patient with CT: well-defined lesion with clear margins in the medial Rhabdomyosarcoma

left eye exophthalmus segment of the left orbit, with several chambers,
which were more evident after contrast enhancement
MRI: irregular isointense tissue with an isointense
peripheral rim and some central areas with
a hyperintense signal

Our case #3 Suspected lymphangioma in a patient with CT: lobular non-encapsulated mass, featuring the same Rhabdomyosarcoma
superior left eyelid edema density as the extra-ocular muscles, well-defined against the

surrounding soft tissues, with diffuse contrast enhancement

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[page 6] [Eye Reports 2012; 2:e1]

whenever the clinical presentation of a rapidly
progressive unilateral exophthalmos or eyelid
swelling is observed in a child, and an exi-
cional biopsy must always be considered. A
prompt, correct diagnosis can be lifesaving.

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Brief Report

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