A RARE COMBINATION OF NEUROFIBROMATOSIS AND

FIBROUS DYSPLASIA

Abstract Number: 105

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 of investigative and clinical dentistry 09/2013; 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

REFERENCES

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5. Shetty, B., Umesh, Y., Kranti, K., and Seshan, H. Periodontal manifestations of von Recklinghausen neuro fibromatosis. J Indian Soc Periodontol. 2013; 17: 253–256

6. Cunha, K.S., Barboza, E.P., Dias, E.P., and Oliveira, F.M. Neurofibromatosis type I with periodontal manifestation. A case report and literature review. Br Dent J. 2004; 196: 457–460