External ophthalmic findings in multiple endocrine neoplasia type 2B.
OBJECTIVE
To identify external ophthalmic abnormalities in multiple endocrine neoplasia type 2B (MEN2B), which may facilitate early detection and prophylactic thyroidectomy to prevent medullary thyroid carcinoma.


METHODS
Three patients with MEN2B were examined by an oculoplastic surgeon and external ophthalmic findings were recorded.


RESULTS
All patients had prominent corneal nerves, thickened eyelids, mild ptosis and eversion of the upper eyelids. Two patients displayed eyelid nodules and one exhibited lower lid margin eversion.


CONCLUSIONS
Ptosis and lower lid margin eversion are previously unreported findings in patients with MEN2B. Medullary thyroid carcinoma is the most serious consequence of MEN2B and has a high mortality if untreated. Early diagnosis and prophylactic thyroidectomy may be lifesaving. Gene mutations can be identified but the sporadic tendency of the syndrome emphasizes the importance of early clinical detection. MEN2B is one of a number of systemic malignancies with ophthalmic manifestations. Ophthalmologists should be aware of the external features of this rare but lethal malignancy.
Parker
Douglas G
DG
Department of Ophthalmology, Royal North Shore Hospital, University of Sydney, Sydney, New South Wales, Australia.
Robinson
Bruce G
BG
O'Donnell
Brett A
BA
D001763:Blepharoptosis / Q000175:diagnosis*; D018276:Carcinoma, Medullary / Q000175:diagnosis / Q000517:prevention & control; D002648:Child; D002675:Child, Preschool; D004483:Ectropion / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008297:Male; D018814:Multiple Endocrine Neoplasia Type 2b / Q000175:diagnosis*; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000517:prevention & control; D013965:Thyroidectomy