FaCD Online Syndrome Fact Sheet

Last updated: 22 Apr 2008

Name: Mucosal Neuroma Syndrome

Synonym: MNS, Multiple Idiopathic Mucosal Neuromas, Intestinal Ganglioneuromatosis

Mode of Inheritance: AD?/de novo?

Tumor features

alimentary tract neuromas
oral neuromas
tongue neuromas

Non-tumor features

cornea, prominent nerves


Pujol et al.[1] reported a 35-year-old woman, who was diagnosed with histologically verified (plexiform) neuromas of the lower lip and tongue at the age of twelve. Neuromas further down the gastrointestinal tract were not excluded. She did not develop additional signs of multiple endocrine neoplasia type 2B. Analysis of her RET gene exons 10, 11 and 16 did not reveal abnormalities. Dennehy et al.[2] reported on a mother and her son and daughter with what appeared to be neuromas of the tongue (without histological confirmation) and prominent corneal nerves (also a sign of MEN2B), with negative findings in the same RET exons. Mutations in other parts of the gene have not been excluded. The same applies to 4 sporadic cases reported by Gordon et al.[3]. Spyer et al did analyze all RET exons in a MNS patients and did not detect any mutations[4].
Similar cases were reported before and are still being reported[5], without the results from RET analysis.


[1] Pujol RM, Matias-Guiu X, Miralles J, Colomer A, de Moragas JM. Multiple idiopathic mucosal neuromas: A minor form of multiple endocrine neoplasia type 2B or a new entity? J Am Acad Dermatol 37[2], 349-352. 1997.
[2] Dennehy PJ, Feldman GL, Kambouris M, O'Malley ER, Sanders CY, Jackson CE. Relationship of familial prominent corneal nerves and lesions of the tongue resembling neuromas to multiple endocrine neoplasia type 2B. Am J Ophthalmol 1995; 120:456-461.
[3] Gordon CM, Majzoub JA, Marsh DJ, Mulliken JB, Ponder BAJ, Robinson BG, Eng C. Four cases of mucosal neuroma syndrome: Multiple endocrine neoplasm 2B or not 2B? J Clin Endocrinol Metab 83[1], 17-20. 1998.
[4] Spyer G, Ellard S, Turnpenny PD, Hattersley AT, Vaidya B. Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for management. Thyroid 2006; 16(6):605-8.
[5] Ledwidge SF, Moorghen M, Longman RJ, Thomas MG. Adult transmural intestinal ganglioneuromatosis is not always associated with multiple endocrine neoplasia or neurofibromatosis: a case report. Journal of clinical pathology 2007; 60(2):222-3.