Download One Approach to Facial Swelling: Tooth or Fiction

ILLUSTRATIVE CASE
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One Approach to Facial Swelling:
Tooth or Fiction
AUTHORS
Daniel Y. Wang, MD, Joyee G. Vachani, MD, MEd
Baylor College of Medicine, Texas Children’s
Hospital, Houston, Texas
KEYWORDS
Burkitt’s lymphoma, facial swelling,
non-Hodgkin’s lymphoma
ABBREVIATIONS
BL: Burkitt’s lymphoma
CT: computed tomography
EBV: Epstein-Barr virus
LCH: Langerhans cell histiocytosis
NHL: non-Hodgkin’s lymphoma
www.hospitalpediatrics.org
doi:10.1542/hpeds.2012-0023
Address correspondence to Daniel Y. Wang,
MD, Baylor College of Medicine, 1 Baylor Plaza,
Houston, TX 77030. E-mail: [email protected]
HOSPITAL PEDIATRICS (ISSN Numbers:
Print, 2154 - 1663; Online, 2154 - 1671).
Copyright © 2013 by the American Academy
of Pediatrics
FINANCIAL DISCLOSURE: The authors have
indicated they have no financial relationships
relevant to this article to disclose.
FUNDING: No external funding.
Introduction: Facial swelling is a common problem in the pediatric population
with a variety of causes, ranging from congenital to acquired diseases. A fundamental understanding of typical clinical presentation helps in narrowing this
broad differential.
Case: A 35-month-old, previously healthy, African American boy presented with
2 weeks of intermittent nightly leg pain and 1 week of unilateral, progressive nontender facial swelling. He had severe, achy right leg pain relieved by ibuprofen,
which was diagnosed as a sprain at an outside emergency center 2 days before
admission. The patient had developed mild, nontender right facial swelling 1 week
before admission and had started amoxicillin for a suspected tooth abscess (Fig 1).
He developed a fever of 38.7°C 2 days before admission. Because the patient failed
to improve with outpatient management, he was admitted for further evaluation.
On admission, the patient appeared well nourished with mild fever of 38.1°C, pulse
rate of 108 beats per minute, and blood pressure of 107/64 mm Hg. His physical
examination showed enlarged tonsils with no exudates and 1-cm, firm, nonerythematous soft tissue swelling overlying the right maxilla with no evidence of dental caries or decay. No cervical, axillary, or inguinal lymph nodes were palpated.
There were no other signs of constitutional symptoms such as weight loss, night
sweats, diarrhea, nausea, or vomiting.
Question: What should be included in an initial differential diagnosis of a patient
who presents with facial swelling, and when is imaging indicated?
Discussion: Cases of facial swelling can be divided into 4 groups: acute swelling with inflammation, nonprogressive swelling, slowly progressive swelling, and
rapidly progressive swelling.1
The most common form of facial swelling is acute swelling with inflammation,
which typically is caused by lymphadenitis, sinusitis, or a tooth infection. Children
who have severe systemic symptoms, concern for an underlying drainable fluid
collection, musculoskeletal infection, or orbital involvement should be considered for advanced imaging such as computed tomography (CT) or MRI scan. The
patient did have a fever with acute swelling and had previously been diagnosed
with a tooth infection. However, he had not responded to antibiotics, and the
swelling had been getting progressively worse.
Nonprogressive swelling refers to congenital midfacial masses such as frontoethmoidal cephaloceles, nasal gliomas, and nasal dermoid and epidermoid cysts.2
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deficits such as facial numbness or
paralysis are present, the index of
suspicion rises for malignancy. This
patient’s presentation was considered rapidly progressive because it
occurred over a 1-week period. With
his symptoms of fever and pain despite
a course of antibiotics, imaging was
warranted.
FIGURE 1 Patient at initial presentation
with predominantly right facial swelling.
CT and MRI scans are helpful in evaluating the extent of the anomalies and
facilitating treatment planning.3 This
patient had no history of any congenital masses and no chronic swelling to
suggest any of these causes.
Slowly progressive swelling describes
an underlying mass such as neurofibroma, hemangioma, fibrous dysplasia
of the bone, and lymphatic or vascular
malformation.1 Depending on the clinical suspicion of expansion or malignancy, advanced imaging should be
considered; however, emergent imaging is not required in most cases. The
timing of this patient’s presentation
with his symptoms did not lead us in
this direction.
More worrisome, but less common,
are cases of rapidly progressive facial
swelling. This type of swelling includes
malignancies such as lymphomas,
rhabdomyosarcomas, Langerhans cell
histiocytosis (LCH), Ewing’s sarcoma,
osteogenic sarcoma, and metastatic
neuroblastoma.4 When cranial nerve
Case Continuation: Laboratory evaluations included the following: white
blood cell count, 8.52/μL; hemoglobin,
11.4 g/dL; hematocrit, 33.2%; platelet, 356 μL; erythrocyte sedimentation
rate, 25 mm/h mg/L; C-reactive protein,
<0.5; aspartate aminotransferase, 265
U/L; alanine aminotransferase, 265 U/L;
alkaline phosphatase, 351 U/L; lactate
dehydrogenase, 1154 U/L; and uric
acid, 4.4 mg/dL. These values revealed
no evidence of bone marrow suppression and normal levels of inflammatory
markers, but they did reveal transaminitis with elevated levels of lactate dehydrogenase and alkaline phosphatase.
The maxillofacial CT scan with contrast showed a 3.7 cm × 2.9 cm × 4.4
cm enhancing lytic mass in the right
maxilla with multiple surrounding lytic
areas of bone loss. Subtle spiculated
periosteal reaction was also noted by
the radiologists. In addition, there was
a 1.6 cm × 2.0 cm × 1.1 cm enhancing lytic mass within the left mandible
as well as focal lytic destruction of the
inner and outer tables of the mandible,
with associated focal spiculated periosteal reaction. The underlying maxillary tooth roots showed abnormal
lucency on the right side. Otherwise,
no definite destructive lytic lesions
or abnormal-appearing lymph nodes
were identified in the head or neck.
The ankle radiograph showed periosteal reaction in the distal diaphysis of
the right fibula.
Question: Based on these laboratory
and radiologic findings, what are the
next steps in management?
Discussion: Given the radiologic findings, the initial differential included
LCH, Ewing’s sarcoma, neuroblastoma,
and lymphoma. Our initial management focused on using our radiologic
findings and noninvasive diagnostic
tests to help narrow the diagnosis.
The patient’s initial presentation of leg
and jaw pain was suggestive of multiple bony lesions due to LCH, which is
known to present with either solitary
or multiple bony lesions as eosinophilic granuloma. This rare disorder
(2 per 1 million children annually)
generally presents between 5 and 10
years of age, predominantly in males.5
Clinically, it presents most frequently
in the skull (40% to 8% in the jaws),
ribs, pelvis, long bones, mandible,
and vertebrae.6 On imaging, the skull
lesions classically are punched-out,
with a lytic appearance and mandibular involvement simulating the appearance of “floating” teeth.7 The patient’s
CT scan showed lytic lesions involving
the mandible, with abnormal lucency
at the maxillary tooth roots commonly
found in LCH. With elevated liver transaminase levels, LCH became higher in
the differential because liver involvement is a known sequela, especially
sclerosing cholangitis, which occurred
in as many as 54% of patients with
multisystem LCH in 1 case series.8 An
abdominal ultrasound was ordered to
detect any changes characteristic of
sclerosing cholangitis or any cholestatic features.
The patient’s maxillofacial CT showed
some spiculated periosteal reaction
with lytic changes that was suspicious
for primary Ewing’s sarcoma. Primary
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Ewing’s sarcoma normally affects the
pelvis, clavicle, and the long bones of
the limbs. However, ∼2% of cases have
involved the face, mostly in the mandible.7 Of those primary tumors in the
face, only 30 cases of primary maxilla
involvement have been reported.9 The
most common radiologic signs in cases
of primary Ewing’s sarcoma involving
the maxilla have been lytic changes
with bone destruction and periosteal
thickening, described as the “sun-ray”
image.10 This finding contrasts with
the characteristic periosteal “onionskinning” reaction, thickening of the
cortical bone, and soft tissue masses
seen in more common cases of Ewing’s
sarcoma.
Typically, neuroblastoma presents
most commonly in the adrenal glands
(40%), but 5% of primary lesions arise in
the head and neck.11,12 Approximately
1% of the cases reveal no primary
tumor but instead present as metastatic disease.12 Given that the patient
presented normotensive, with no
abdominal mass, periorbital ecchymosis, or any autonomic symptoms, neuroblastoma was less likely, but urine
catecholamine levels were analyzed to
rule out that remote possibility.
Lymphoma was further down on the
differential due to the patient’s presentation without any palpable lymph
nodes or other constitutional symptoms. However, lymphoma is 1 of the
most common malignancies involving the extracranial head and neck.12
Hodgkin’s lymphoma presents more
commonly in adolescents whereas
non-Hodgkin’s lymphoma (NHL) predominates in children aged <10 years.
Primary NHL of the bone occurs <3% to
9% of the time in the pediatric population and at 0.6% in the mandible in the
overall population.13 Of all the different
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types of NHL, endemic Burkitt’s lymphoma (BL) presents more commonly
with jaw or facial bone tumors, but
our patient had never been in Africa
or Papua New Guinea. Sporadic (nonendemic) BL accounts for 30% of all
nonendemic pediatric lymphomas
but typically presents with abdominal
manifestations such as gastrointestinal bleeding, bowel obstruction, and
ascites, which were also not present in
our patient.8
Ultimately, the next management step
was a biopsy of the lytic lesions in the
patient’s mandible.
Case Resolution: Before the biopsy,
results of a liver ultrasound and urine
catecholamine levels were both normal. The otolaryngology surgeons
were able to obtain 3 biopsy samples
from the right maxillary mass. The
histologic, genetic, and immunophenotypic components were consistent
with BL, including flow cytometry
showing a population of mature CD10and CD20-positive B cells, fluorescent
in situ hybridization demonstrating
a pattern consistent with an immunoglobulin H–MYC fusion in 91% of
cells suggestive of a translocation of
chromosome 8 and 14, and immunohistochemical stains demonstrating a
“starry sky” pattern of macrophages
and tumor cells. Staging was completed, which showed no metastasis or
central nervous system involvement,
and the patient was subsequently
started on an experimental chemotherapy by the hematology/oncology
specialists.
Discussion: First characterized >50
years ago in African children, BL is
an aggressive B cell NHL endemic in
equatorial Africa.14 BL presents 60%
to 80% of the time with jaw or facial
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lesions at the mean age of 9 years
and has an incidence of 50 to 100 per
1 million children.8 Endemic BL has
been well known to be associated
with Epstein-Barr virus (EBV), with
EBV serology detected in >95% cases,
and Plasmodium falciparum malaria,
which may directly stimulate B cells or
indirectly suppress immune response
toward EBV.
A sporadic variant, found outside of
Africa, is virtually indistinguishable
under the microscope with the same
translocation between c-Myc on
chromosome 8 and human immunoglobulin heavy chain on chromosome
14. As the third most common childhood lymphoid malignancy among
children aged <15 years, sporadic BL
represents the most common subtype
of NHL in the United States, with an
estimated overall incidence of 1 to 3
per 100 000 children.8 The etiology is
still unknown, but risk factors such as
male gender, non-Hispanic white race,
and early childhood exposure to infection such as HIV and EBV have been
identified.15
Conclusions: Pediatric facial swelling
presents a wide differential, from common benign conditions to more deadly
diseases. In most cases, pediatricians
will encounter acute infectious processes such as lymphadenitis or tooth
infection. However, having a broad differential for the rare but deadlier processes can lead to early diagnosis and
treatment. Due to the resemblance of
common dental disease, which might
also present with acute facial swelling
and tenderness, primary NHLs that
present in the mandible have an average of 10 weeks between first presentation and final diagnosis, which can
delay the correct treatment.15 In this
case, there were very few risk factors
HOSPITAL Pediatrics ®
that made us initially think of sporadic
BL, but the clinical presentation of
rapidly progressing facial swelling with
failed treatment of dental abscesses or
infection should have been the initial
clue.
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