Conjunctival and Lingual mucosal neuromas without multiple endocrine neoplasia type 2B
Purpose: To report a patient with conjunctival and buccal neuromas and enlarged corneal nerves without Multiple Endocrine Neoplasia 2B (MEN2B). Observations: A 28-year-old female presented with progressively enlarging bilateral limbal conjunctival growths. Slit lamp examination was notable for enlar...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-06-01
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| Series: | American Journal of Ophthalmology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993623000361 |
| _version_ | 1797823720670101504 |
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| author | Talia N. Shoshany Christopher J. Rapuano Tatyana Milman |
| author_facet | Talia N. Shoshany Christopher J. Rapuano Tatyana Milman |
| author_sort | Talia N. Shoshany |
| collection | DOAJ |
| description | Purpose: To report a patient with conjunctival and buccal neuromas and enlarged corneal nerves without Multiple Endocrine Neoplasia 2B (MEN2B). Observations: A 28-year-old female presented with progressively enlarging bilateral limbal conjunctival growths. Slit lamp examination was notable for enlarged corneal nerves and well-circumscribed gelatinous subepithelial limbal nodules. Systemic examination revealed similar lesions on the tongue. Conjunctival biopsy demonstrated a mucosal neuroma. The patient underwent endocrine workup for MEN2B and genetic testing for the RET-proto oncogene mutations, all of which were negative. Conclusions and Importance: The findings in our patient may be compatible with pure mucosal neuroma syndrome. The pattern of conjunctival neuromas and enlarged corneal nerves should raise concern for MEN2B, a hereditary tumor predisposition syndrome with almost 100% incidence of medullary thyroid cancer, unless prophylactic thyroidectomy is performed. Accurate diagnosis and prompt referral for endocrine and genetic testing is critical. Isolated mucosal neuromas without endocrine manifestations of MEN2B can rarely occur in a “pure mucosal neuroma syndrome,” which is a diagnosis of exclusion in a setting of a negative workup. |
| first_indexed | 2024-03-13T10:28:09Z |
| format | Article |
| id | doaj.art-a7e392035ceb4a85828a322fa6fb37d8 |
| institution | Directory Open Access Journal |
| issn | 2451-9936 |
| language | English |
| last_indexed | 2024-03-13T10:28:09Z |
| publishDate | 2023-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | American Journal of Ophthalmology Case Reports |
| spelling | doaj.art-a7e392035ceb4a85828a322fa6fb37d82023-05-19T04:46:10ZengElsevierAmerican Journal of Ophthalmology Case Reports2451-99362023-06-0130101828Conjunctival and Lingual mucosal neuromas without multiple endocrine neoplasia type 2BTalia N. Shoshany0Christopher J. Rapuano1Tatyana Milman2Ophthalmology Department, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USAOphthalmology Department, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USAOphthalmology Department, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USA; Pathology Department, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USA; Corresponding author. Ophthalmology and Pathology Wills Eye Hospital and Thomas Jefferson University Hospital 840 Walnut Street, Suite 1410 Philadelphia, PA, 19107, USA.Purpose: To report a patient with conjunctival and buccal neuromas and enlarged corneal nerves without Multiple Endocrine Neoplasia 2B (MEN2B). Observations: A 28-year-old female presented with progressively enlarging bilateral limbal conjunctival growths. Slit lamp examination was notable for enlarged corneal nerves and well-circumscribed gelatinous subepithelial limbal nodules. Systemic examination revealed similar lesions on the tongue. Conjunctival biopsy demonstrated a mucosal neuroma. The patient underwent endocrine workup for MEN2B and genetic testing for the RET-proto oncogene mutations, all of which were negative. Conclusions and Importance: The findings in our patient may be compatible with pure mucosal neuroma syndrome. The pattern of conjunctival neuromas and enlarged corneal nerves should raise concern for MEN2B, a hereditary tumor predisposition syndrome with almost 100% incidence of medullary thyroid cancer, unless prophylactic thyroidectomy is performed. Accurate diagnosis and prompt referral for endocrine and genetic testing is critical. Isolated mucosal neuromas without endocrine manifestations of MEN2B can rarely occur in a “pure mucosal neuroma syndrome,” which is a diagnosis of exclusion in a setting of a negative workup.http://www.sciencedirect.com/science/article/pii/S2451993623000361Conjunctival neuromaEnlarged corneal nervesEnlarged corneal nerves MEN2BPure mucosal neuroma syndromeConjunctival neuroma MEN2BPure mucosal neuroma syndrome eye |
| spellingShingle | Talia N. Shoshany Christopher J. Rapuano Tatyana Milman Conjunctival and Lingual mucosal neuromas without multiple endocrine neoplasia type 2B American Journal of Ophthalmology Case Reports Conjunctival neuroma Enlarged corneal nerves Enlarged corneal nerves MEN2B Pure mucosal neuroma syndrome Conjunctival neuroma MEN2B Pure mucosal neuroma syndrome eye |
| title | Conjunctival and Lingual mucosal neuromas without multiple endocrine neoplasia type 2B |
| title_full | Conjunctival and Lingual mucosal neuromas without multiple endocrine neoplasia type 2B |
| title_fullStr | Conjunctival and Lingual mucosal neuromas without multiple endocrine neoplasia type 2B |
| title_full_unstemmed | Conjunctival and Lingual mucosal neuromas without multiple endocrine neoplasia type 2B |
| title_short | Conjunctival and Lingual mucosal neuromas without multiple endocrine neoplasia type 2B |
| title_sort | conjunctival and lingual mucosal neuromas without multiple endocrine neoplasia type 2b |
| topic | Conjunctival neuroma Enlarged corneal nerves Enlarged corneal nerves MEN2B Pure mucosal neuroma syndrome Conjunctival neuroma MEN2B Pure mucosal neuroma syndrome eye |
| url | http://www.sciencedirect.com/science/article/pii/S2451993623000361 |
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