[Conjunctival neuromas and prominent corneal nerve fibers as diagnostic indication of multiple endocrine disease].

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.