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Kim, Jang, Kang, and Lim: Multiple Endocrine Neoplasia Type 2B Diagnosed Early by Conjunctival Neuroma: a Case Report
Case Report

Int J Thyroidol 2016;9(2):204-209.

Published online: 20 November 2016

DOI: https://doi.org/10.11106/ijt.2016.9.2.204

Multiple Endocrine Neoplasia Type 2B Diagnosed Early by Conjunctival Neuroma: a Case Report

Dong-Ho Kim, Ye-Seul Jang, Sang-Rok Kang, Dong-Mee Lim

Division of Endocrinology and Metabolism, Department of Internal Medicine, Konyang University College of Medicine, Daejeon, Korea

Correspondence: Dong-Mee Lim, MD, Division of Endocrinology and Metabolism, Department of Internal Medicine, Konyang University College of Medicine, 158 Gwanjeodong-ro, Seo-gu, Daejeon 35365, Korea Tel: 82-42-600-9169, Fax: 82-42-600-9090, E-mail: mdldm@hanmail.net

Received 16 May 2016       Revised 27 October 2016       Accepted 31 October 2016

Copyright © 2016 Korean Thyroid Association

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Multiple endocrine neoplasia type 2B (MEN 2B) is an autosomal dominant disorder characterized by medullary thyroid cancer, pheochromocytoma, neuroma and Marfanoid feature. Medullary thyroid cancer occurs in more than 95% patients of MEN 2B and increases mortality. So, the early diagnosis of multiple endocrine neoplasia is very important, because in the early diagnosed and treated medullary thyroid cancer, the prognosis is excellent. This is a case of multiple endocrine neoplasia type 2B that diagnosed early by conjunctival neuroma. A 15-year-old female patient was presented with both conjunctival masses that occurred 6 months ago. The excisional biopsy revealed conjunctival neuroma. The multiple endocrine tumor was suspected, further evaluation was performed. Medullary thyroid cancer was confirmed by thyroid ultrasound and fine needle aspiration. Finally, MEN type 2B was confirmed by a RET mutation genetic testing.

Keywords: Conjuctival neuroma, Multiple endocrine neoplasia type 2B

References

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Fig. 1.
Photography of tongue and conjunctiva. (A) The facial appearance of patient was characterized by Marfanoid feature. (B) Patient' s tongue had multiple nodules. (C) Small nodules were seen on the conjunctiva.
ijt-9-204f1.tif
Fig. 2.
131-I MIBG scan. 131-I MIBG tumor scan showed bilateral progressive increased MIBG uptake in both thyroid glands and mild increased uptake in left sup-rarenal area on 72 hours image (arrows).
ijt-9-204f2.tif
Fig. 3.
Thyroid ultrasonography. (A) 1-cm-sized irregular hypoechoic nodule was seen in midpole of right thyroid gland. (B) About 5-mm-sized hypoechoic nodule was seen in midpole of left thyroid gland.
ijt-9-204f3.tif
Fig. 4.
Pathologic finding. (A) The specimen showed round or polygonal cells with amyloid deposit (H&E stain, ×400). (B) The specimen showed positive immunostain for calcitonin (immunohistochemical stain, ×400).
ijt-9-204f4.tif
Table 1.
MEN 2B cases reported in Korea
Patient Age/sex Signs and symptoms Past history Family history RET mutation test Phenotype Management
1 33/M Intermittent flush, palpitation, hypertension, multiple nodules on tongue None None None Pheochromocytoma Mucosal neuroma Medullary thyroid carcinoma Adrenalectomy Total thyroidectomy
2 19/F Abdominal pain, facial flush, headache, fluctuating blood pressure, multiple nodules on tongue Medullary thyroid carcinoma (total thyroidectomy) None None Pheochromocytoma Mucosal neuroma Medullary thyroid carcinoma Adrenalectomy
3 27/M Multiple nodules on lips and tongue Medullary thyroid carcinoma (total thyroidectomy) None None Mucosal neuroma Medullary thyroid carcinoma Marfanoid feature None
4 24/F Multiple nodules of oral mucosa Megacolon, mucosal neuroma on lip, medullary thyroid carcinoma (total thyroidectomy, cervical lymph node dissection) None M918T Pheochromocytoma Mucosal neuroma Medullary thyroid carcinoma Marfanoid feature Adrenalectomy Right cervical lymph node dissection
5 1/M Small protruding mass on lip None Mother (MEN 2B) M918T None Prophylactic thyroidectomy with cervical lymph node dissection
6 9/M Multiple nodules on lips and tongue Severe constipation None M918T Mucosal neuroma Marfanoid feature Recommended total thyroidectomy
7 15/F Conjunctival mass, multiple nodules on lips and tongue None None M918T Conjunctival neuroma Medullary thyroid carcinoma Marfanoid feature Total thyroidectomy
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