Publication date: Jan 17, 2025

Neurofibromatosis type 1 (NF-1) is a genetic disorder commonly characterized by cafcE9-au-lait macules, neurofibromas and axillary freckling. We present the case of a 20-year-old female who had bilateral neck swellings, and these swellings were misdiagnosed as cervical lymphadenopathy, and the patient was started on anti-tubercular therapy (ATT), but the swellings didn’t show any improvement despite 6 months of ATT. Further examination revealed thickening of the greater auricular, supratrochlear and supraorbital nerves, accompanied by an unusual freckling pattern along the thickened nerves, which were suggestive of neurofibromatosis. The patient exhibited cafcE9-au-lait macules and palmar, inguinal and axillary freckling but had no cutaneous neurofibromas or hypaesthesic patches typical of leprosy, a key differential diagnosis. History of neurofibromatosis was present in the family. Ultrasound imaging, showed nerve thickening, confirmed the NF-1 diagnosis. This case highlights the need to consider NF-1 in the differential diagnosis of nerve thickening, particularly in regions endemic for leprosy and tuberculosis, to prevent misdiagnosis and inappropriate treatment.

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Original Article