Abstract Number: 105
A RARE COMBINATION OF
NEUROFIBROMATOSIS AND
FIBROUS DYSPLASIA
PATIENT HISTORY
• A 20 years old male patient came with
complaint of swelling in the face involving
bilateral cheeks that persisted for 10 years.
• The swelling had gradually increased in size
and was obscuring the field of vision.
• No significant past / family history noted
ON EXAMINATION
• On Palpation the swelling was of normal
temperature, non tender, firm in consistency
and skin over the swelling was pinchable.
• On general examination, patient had Café au
lait spots over the trunk
PLAIN AND CECT FINDINGS
• Revealed a large soft tissue density lesion in the right
infratemporal fossa causing widening and scalloping of the
right pterygopalatine fossa with extension into the right orbit
and pre maxillary region causing right proptosis.
• Soft tissue density lesion was seen in the inferior aspect of left
orbit with extension into the widened left infraorbital canal
and foramen.
• Anteriorly the lesion was seen extending into the left
premaxillary region.
• Both the lesions show homogenous moderate contrast
enhancement on the delayed contrast images.
• Neurofibroma was considered as possibility.
PLAIN AND CECT FINDINGS
• Ground glass density was seen involving floor and
walls of maxillary sinuses, bilateral ethmoid sinuses
and bilateral inferior and middle turbinates.
• Soft tissue density seen filling the narrowed cavities
of bilateral maxillary sinuses with extension of soft
tissue density into nasal cavity.
• Possibility of fibrous dysplasia was considered.
AXIAL CT
•
Bone window
AXIAL CT
•
Bone window
• Widening and scalloping of the right pterygopalatine fossa with extension into the
right orbit and pre maxillary region.
SOFT TISSUE WINDOW
•
Plain CT Axial
SOFT TISSUE WINDOW
•
Plain CT Axial
SOFT TISSUE WINDOW
•
CECT Axial
SOFT TISSUE WINDOW
•
CECT Axial
CORONAL CECT
CORONAL CECT
HISTOPATHOLOGY
• Biopsy of the soft tissue swelling in the cheek was
done and specimen was sent for Histopathological
analysis.
• Histopathology result was consistent with
Neurofibroma.
• Patient was managed conservatively.
DISCUSSION
• Neurofibromatosis and fibrous dysplasia were both
originally described by von Recklinghausen.
• A regulator gene mutation is postulated as possibly
responsible for this unusual presentation.
• Neurofibromatosis is inherited as an autosomal
dominant disorder, but there is a high rate of new
mutations.
• Fibrous dysplasia is a congenital, non-hereditary,
progressive, skeletal disorder by which normal bone
is replaced by a variable amount of structurally weak
fibrous and osseous tissue.
DISCUSSION
• Craniofacial fibrous dysplasia is different in that it
ignores suture lines; more than one bone is usually
involved.
• The radiologic appearance of fibrous dysplasia can
appear as a lucent area with a sclerotic rim. In the
skull base and facial bones, fibrous dysplasia
manifests as marked sclerosis and bone thickening.
CONCLUSION
• Neurofibromatosis and fibrous dysplasia show the presence of
cafe-au-lait spots, bone lesions, and endocrinopathies.
• There has been speculation whether neurofibromatosis and
fibrous dysplasia are different manifestations of the same
disease or if these conditions are in some way related.
• We report this case as neurofibromatosis coexisting with
fibrous dysplasia is very rare and only few cases have been
reported worldwide.
REFERENCES
1. Department of Oral Medicine, Diagnosis and Radiology, M.S.
Ramaiah Dental College and Hospital, Bangalore, India. Journal
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DOI: 10.1111/jicd.12059
2. JAMA Neurology (Impact Factor: 7.58). 09/1967; 17(2):174-9.
DOI: 10.1001/archneur.1967.00470260064007
3. Roger N. Rosenberg, MD; Jon Sassin, MD; Earl A. Zimmerman,
MD; Sidney Carter, MD. Arch Neurol. 1967;17(2):174-179.
doi:10.1001/archneur.1967.00470260064007
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