[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.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Tomida
I
I
Universitäts-Augenklinik Abt. 1, Universität Tübingen, Schleichstrasse 12-16, 72076 Tübingen.
Rohrbach
J M
JM
Zierhut
M
M
Dralle
H
H
D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003228:Conjunctiva / Q000473:pathology; D003230:Conjunctival Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D003315:Cornea / Q000294:innervation* / Q000473:pathology; D003937:Diagnosis, Differential; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008297:Male; D018814:Multiple Endocrine Neoplasia Type 2b / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009412:Nerve Fibers / Q000473:pathology*; D009463:Neuroma / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology