Neurofibromatosis Type 1 — MFDS Part 1 MCQ

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ModerateOral PathologyNeurofibromatosis Type 1MFDS Part 1

A 19-year-old patient has a painless, slowly enlarging nodule on the lateral border of the tongue. Examination also shows numerous café-au-lait macules, bilateral axillary freckling and multiple soft cutaneous nodules. Histopathological examination of the tongue lesion confirms a neurofibroma. Which underlying condition is most likely?

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Correct answer: A — Neurofibromatosis type 1

The correct answer is A, neurofibromatosis type 1 (NF1). The discriminating combination is multiple café-au-lait macules, axillary freckling and multiple cutaneous neurofibromas. Neurofibromas may also occur in oral and perioral tissues, including the tongue. NF1 is an autosomal-dominant tumour-predisposition disorder caused by pathogenic variants affecting neurofibromin. Gorlin-Goltz syndrome is associated principally with multiple odontogenic keratocysts, basal cell carcinomas and palmar or plantar pits. Gardner syndrome features colorectal polyposis, osteomas and dental abnormalities. Sturge-Weber syndrome produces a facial capillary malformation with neurological and ipsilateral vascular oral changes, rather than neurofibromas. Treacher Collins syndrome is a mandibulofacial dysostosis and does not cause café-au-lait macules or neurofibromas.

Reference: Wotjiuk F, Hyon I, Dajean-Trutaud S, et al. Dental Management of Neurofibromatosis Type 1: A Case Report and Literature Review. International Journal of Clinical Pediatric Dentistry. 2019;12(6):577-581. https://pubmed.ncbi.nlm.nih.gov/32440079/