Arytenoid neuromas are a recognized feature of SOS1 mutations causing pure mucosal neuroma syndrome

Leyden, Peter; Morrison, Patrick J.

doi:10.1097/mcd.0000000000000202

Cited by 2 publications

(2 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Endocrinologist agreed with our diagnosis that they may have overlooked this rare distinct subgroup of MEN2B. A British investigation identified a genetic cause of pure MNS in which SOS1 frameshift mutations were related to isolated mucosal neuromas and gingival hypertrophy [ 23 , 24 ]. In our case, testing for SOS1 mutation was positive, which is consistent with this British investigation [ 23 , 24 ].…”

Section: Discussionsupporting

confidence: 67%

“…A British investigation identified a genetic cause of pure MNS in which SOS1 frameshift mutations were related to isolated mucosal neuromas and gingival hypertrophy [ 23 , 24 ]. In our case, testing for SOS1 mutation was positive, which is consistent with this British investigation [ 23 , 24 ]. Nevertheless, a larger series of pure MNS patients is needed to confirm a detailed phenotype of this disorder.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Prominent corneal nerves in pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B

et al. 2023

View full text Add to dashboard Cite

Background Pure mucosal neuroma syndrome (MNS), an autosomal dominant neurocutaneous disorder, is a rare discrete subgroup in multiple endocrine neoplasia (MEN) type 2B, which present without associated endocrinopathies of MEN2B but with typical physical features such as prominent corneal nerves. Case presentation This report describes a 41-year-old patient with complaint of itchy eyes and irritation, presenting with blocked gland orifices in the upper and lower eyelids, light conjunctival hyperemia, a semitransparent neoplasm measuring 2 mm*2 mm on the nasal limbus suggestive of neuromas, and prominent corneal nerves. In vivo confocal microscopy (IVCM) revealed structural alterations—namely a prominent hyperreflective, thickened nerve plexus and a normal endothelium—in both eyes. Testing for SOS1 mutation was positive. This patient may represent a discrete subgroup termed pure mucosal neuroma syndrome (MNS), which presents with the characteristic appearance of MEN2B but without RET gene mutations. Conclusion Prominent corneal nerves have been described in some diseases, such as multiple endocrine neoplasia (MEN) type 1 and type 2A and 2B, congenital ichthyosis, Refsum’s disease, leprosy, etc. Ophthalmic assessment including prominent corneal nerves has proven valuable in asymptomatic individuals of MEN2B. Our case illustrates the importance of recognizing the ocular features of MNS, a rare presentation of MEN2B, in order to prevent prophylactic thyroidectomy in these patients for prophylactic thyroidectomy is not mandatory in MNS. However, regular monitoring and genetic counseling are still necessary.

show abstract