[结膜神经瘤和显著的角膜神经纤维作为多发性内分泌疾病的诊断指征]
[Conjunctival neuromas and prominent corneal nerve fibers as diagnostic indication of multiple endocrine disease].
作者信息
Tomida I, Rohrbach J M, Zierhut M, Dralle H
机构信息
Universitäts-Augenklinik Abt. 1, Universität Tübingen, Schleichstrasse 12-16, 72076 Tübingen.
出版信息
Klin Monbl Augenheilkd. 2001 Jun;218(6):463-5. doi: 10.1055/s-2001-16264.
BACKGROUND
Multiple endocrine neoplasias (MEN-syndromes) represent diverse, mostly autosomal-dominant inherited, seldom sporadic diseases. MEN 2B-syndrome comprises medullary thyroid carcinoma, pheochromocytoma and mucosal neuromas.
PATIENT
A 30 year old male patient presented with bilateral chronic irritation of the ocular surface. The biomicroscopy revealed intraconjunctival worm-like alterations, prominent corneal nerves and nodules on the upper lid margins.
HISTOLOGY
The performed conjunctival biopsy showed nearly no goblet cells, but prominent intrastromal, immunohistochemical S100-positive neuromas.
RESULTS
The initiated investigations revealed bilateral multifocal medullary thyroid carcinoma and a left sited pheochromocytoma.
CONCLUSION
Conjunctival neuromas and prominent corneal nerves can be diagnostic for the MEN 2B-syndrom. Early diagnosis and prophylactic thyroidectomy are expected to improve the life expectancy even in asymptomatic gene-carriers.
背景
多发性内分泌肿瘤（MEN综合征）表现多样，大多为常染色体显性遗传，很少为散发性疾病。MEN 2B综合征包括甲状腺髓样癌、嗜铬细胞瘤和黏膜神经瘤。
患者
一名30岁男性患者出现双侧眼表慢性刺激症状。生物显微镜检查发现结膜内有蠕虫样改变、角膜神经突出以及上睑缘有结节。
组织学检查
所进行的结膜活检显示几乎没有杯状细胞，但基质内有突出的免疫组化S100阳性神经瘤。
结果
启动的检查发现双侧多灶性甲状腺髓样癌和左侧嗜铬细胞瘤。
结论
结膜神经瘤和突出的角膜神经可作为MEN 2B综合征的诊断依据。即使对于无症状基因携带者，早期诊断和预防性甲状腺切除术有望提高预期寿命。
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