[Familial mucosal neuromatosis: a minor form of the MEN-2b syndrome].
When the alert ophthalmologist found visible corneal nerves on a clear stroma, he must remind about the multiple endocrine neoplasia syndrome (M.E.N.-2b) and look for the medullary carcinoma of thyroid and the pheochromocytomas. Recognition of these ocular lesions as components of the syndrome is of the utmost importance because prompt identification of individuals affected by multiple endocrine neoplasia type 2 b facilitates early treatment of associated medullary thyroid carcinomas and pheochromocytomas. These endocrine neoplasias must be carefully searched by endocrine means. We present for the first time, in our knowledge, one family with M.E.N.-2b syndrome without endocrine neoplasias at this moment. We think it can be one minor presentation. We call this form "familial multiple mucosal neuromas".
D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000175:diagnosis; D000328:Adult; D002277:Carcinoma / Q000175:diagnosis; D002648:Child; D003315:Cornea / Q000294:innervation*; D003937:Diagnosis, Differential; D005142:Eyelid Neoplasms / Q000235:genetics; D005260:Female; D006801:Humans; D006984:Hypertrophy; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000175:diagnosis / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000175:diagnosis; D009463:Neuroma / Q000235:genetics*; D010641:Phenotype; D010673:Pheochromocytoma / Q000175:diagnosis; D013964:Thyroid Neoplasms / Q000175:diagnosis; D014062:Tongue Neoplasms / Q000235:genetics
La neuromatose muqueuse familiale: une forme mineure du syndrome M.E.N.-2 b.