Purpose

To describe clinical, anterior segment optical coherence tomography (AS-OCT), in vivo confocal microscopy (IVCM), histopathologic, and immunohistochemical findings in a patient with multiple endocrine neoplasia type 2b (MEN 2b) syndrome

Materials and methods

Retrospective case report of a patient with MEN 2b.

Results

A 31-year-old male diagnosed with MEN 2b presented with eye redness, burning, and visible conjunctival mass in both eyes. The patient’s past medical history revealed that he underwent bilateral adrenalectomy and total thyroidectomy. Genetic testing revealed M918T heterozygous mutation in the RET proto-oncogene. Corrected visual acuity was 20/20 in both eyes. Anterior segment examination revealed bilateral thickened lid margins, ectropion, blepharitis, conjunctival injection, temporal and inferonasal subconjunctival lesions with corneal invasion, corneal neovascularization, and marked corneal nerves. AS-OCT showed a subepithelial mixed reflective lobular mass in both eyes. Hyperreflective and noticeable thickened stromal corneal nerves were observed on IVCM in the left eye. After incisional biopsy of the right perilimbal lesions, histopathological examination revealed that lesions consisted of spindle cells in hypocellular bundles with no atypia and mitosis. Immunohistochemical examination revealed diffuse staining with S100, focal staining with synaptophysin, and no staining with neurofilament protein. These findings were considered compatible with a benign nerve sheath tumor, probably schwannoma.

Conclusions

We present clinical, AS-OCT, IVCM, histopathological, and immunohistochemical findings in a patient with MEN 2b. To our knowledge, this is the first case of a conjunctival schwannoma diagnosed histopathologically in MEN 2b.

中文翻译：

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多发性内分泌肿瘤2b型患者的前节光学相干断层扫描，体内共聚焦显微镜检查，组织病理学和免疫组织化学检查结果。

目的

描述多发性内分泌肿瘤2b型（MEN 2b）综合征患者的临床，前段光学相干断层扫描（AS-OCT），体内共聚焦显微镜（IVCM），组织病理学和免疫组化检查结果

材料和方法

MEN 2b患者的回顾性病例报告。

结果

一名诊断为MEN 2b的31岁男性在两只眼睛中均出现眼睛发红，灼热和可见结膜肿块。该患者的既往病史表明他接受了双侧肾上腺切除术和全甲状腺切除术。基因测试显示，RET原癌基因中存在M918T杂合突变。两只眼睛的矫正视力为20/20。前段检查显示双侧眼睑边缘增厚，外翻，睑缘炎，结膜注射，结膜下颞下结膜病变，角膜浸润，角膜新生血管形成和角膜神经明显。AS-OCT在两只眼睛中均显示出上皮下混合反射性小叶肿块。在左眼IVCM上观察到高反射性和明显的间质角膜基质增厚。右肢周围病变切开活检后，组织病理学检查显示，病变由纺锤状细胞组成，呈低细胞束，无异型和有丝分裂。免疫组织化学检查发现，S100弥漫性染色，突触素局部染色，神经丝蛋白未染色。这些发现被认为与良性神经鞘瘤（可能是神经鞘瘤）相容。

结论

我们介绍了MEN 2b患者的临床，AS-OCT，IVCM，组织病理学和免疫组化结果。据我们所知，这是在MEN 2b中通过组织病理学诊断的结膜神经鞘瘤的首例病例。