Multiple Endocrine Neoplasia Type 2B Diagnosed Early by Conjunctival Neuroma: a Case Report.
10.11106/ijt.2016.9.2.204
- Author:
Dong Ho KIM
1
;
Ye Seul JANG
;
Sang Rok KANG
;
Dong Mee LIM
Author Information
1. Division of Endocrinology and Metabolism, Department of Internal Medicine, Konyang University College of Medicine, Daejeon, Korea. mdldm@hanmail.net
- Publication Type:Case Report
- Keywords:
Conjuctival neuroma;
Multiple endocrine neoplasia type 2B
- MeSH:
Adolescent;
Biopsy;
Biopsy, Fine-Needle;
Early Diagnosis;
Female;
Genetic Testing;
Humans;
Male;
Mortality;
Multiple Endocrine Neoplasia Type 2b*;
Multiple Endocrine Neoplasia*;
Neuroma*;
Pheochromocytoma;
Prognosis;
Thyroid Gland;
Thyroid Neoplasms;
Ultrasonography
- From:International Journal of Thyroidology
2016;9(2):204-209
- CountryRepublic of Korea
- Language:Korean
-
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.
