Multiple endocrine neoplasia 2b or 3 (men 2b or 3)

General: Autosomal dominant inheritance; multiple endocrine neoplasia type 3 (MEN3) has 414c21e been separated from MEN2 because of low incidence of associated parathyroid disease in these cases; poor prognosis; several different point mutations in the RET protooncogene on chromosome 10 have been associated with the multiple endocrine neoplasia type 2 syndromes.

Ocular: Prominent corneal nerves in clear stroma; diffuse, nodular thickening of eyelids; nasal displacement of lacrimal puncta; rostral displacement of eyelashes; eversion of eyelids; subconjunctival neuromas; thickened conjunctival nerves; decreased tear formation; prominent eyebrows; impaired pupillary dilation; thickened iris nerves; increased intraocular pressure (rare); localized orbital neurofibromas (orbit, conjunctiva); lesions of the tongue resembling neuromas.

Clinical: May be present at birth or develop later; 50% show complete syndrome of multiple neuromas (lips, tongue, eyelids), bumpy lips, pheochromocytoma, and medullary carcinoma; others exhibit variable combinations of the preceding, without the pheochromocytoma; diarrhea; marfanoid habitus.

Colombo CG, Watson AG. Ophthalmic manifestations of multiple endocrine neoplasia, type three. Can Ophthalmol 1976; 11:290-294.

Dennehy PJ, et al. Relationship of familial prominent corneal nerves and lesions of the tongue resembling neuromas to multiple endocrine neoplasia type 2B. Am J Ophthalmol 1995; 120:456-461.

Holloway KB, Flowers FP. Multiple endocrine neoplasia 2B (MEN 2B)/MEN3. Dermatol Clin 1995; 13:99-l03.

Kalina PH, et al. Isolated neurofibromas of the conjunctiva. Am J Ophthalmol 1991; 111:694-698.

Meyer DR, Wobig JL. Bilateral localized orbital neurofibromas. Ophthalmology 1992; 99: 1313-l317.

Norum RA, et al. Linkage of the multiple endocrine neoplasia type 2B gene (MEN 2B) to chromosome 10 markers linked to MEN2A. Genomics 1990; 8:313-317.

Schweitzer NMJ, Van Der Pal BAE. Multiple mucosal neuroma (MMN) or multiple endocrine neoplasia (MEN) type 3 syndrome: ocular manifestations. A case report. Doc Ophthalmol 1977; 44:151.

Spector B, et al. Histologic study of the ocular lesions in multiple endocrine neoplasia syndrome type IIb. Am J Ophthalmol 1981; 91:204-215.