Authors: Leah Antoinette M. Caro-Chang1, Eileen Liesl A. Cubillan
Abstract
Introduction: We report a case of bilateral segmental neurofibromatosis in a 47-year old female with classic cutaneous neurofibromas and café-au-lait macules. There were no ophthalmologic, neurologic or skeletal abnormalities.
Case summary: A 47-year-old-female had multiple asymptomatic brown macules and skin-colored papules on her abdomen that had been present for three years. There were no systemic symptoms associated with their appearance. She had no family history of similar lesions. Examination of her children did not reveal any significant findings. The patient does not have any history of seizures or neurologic disorders. Physical examination revealed multiple brown macules and few firm skin-colored papules in a dermatomal distribution (approximately T5-T9). There were more brown macules on the right abdomen extending to the midline at the back while the skincolored papules, approximately 3 to 5 mm in size, were more on the left hemiabdomen. She did not have axillary or inguinal freckling, plexiform neurofibromas, or other apparent skeletal abnormalities. The clinical suspicion for segmental neurofibromatosis was high but biopsy was still performed on a brown macule and skin-colored papule on the abdomen. Histopathologic examination of the brown macule was consistent with a café-au-lait macule. On the other hand, the papule had a histopathologic picture consistent with a neurofibroma.
Conclusion: Prevalence of disease associations or systemic involvement in segmental neurofibromatosis are lower than the generalized form. Despite such trend, it is still prudent to rule out and monitor the development of such complications in a patient presenting with segmental neurofibromatosis.
Citation
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Keywords
segmental neurofibromatosis, bilateral segmental, neurofibromas
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