PURPOSE: 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. CONCLUSION: 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.
PURPOSE: 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. CONCLUSION: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.
Authors: D Babovic-Vuksanovic; Ludwine Messiaen; Christoph Nagel; Hilde Brems; Bernd Scheithauer; Ellen Denayer; Rong Mao; Raf Sciot; Karen M Janowski; Martin U Schuhmann; Kathleen Claes; Eline Beert; James A Garrity; Robert J Spinner; Anat Stemmer-Rachamimov; Ralitza Gavrilova; Frank Van Calenbergh; Victor Mautner; Eric Legius Journal: Eur J Hum Genet Date: 2012-01-18 Impact factor: 4.246