Visible corneal nerve fibers and neuromas of the conjunctiva--a syndrome of type-3 multiple endocrine adenomatosis in two generations.
A case report of multiple mucosal neuroma syndrome (multiple endocrine adenomatosis type 3) is presented in a mother and her two children. In all of them the eye involvement consisted of highly visible corneal nerves, neuromas of the conjunctiva, and thickened eye lids. The mother had mucosal neuromas of the tongue, and in the 4-year-old girl these were seen to appear during the follow-up period. The mother and children had medullary carcinoma of the thyroid. Marfanoid physiognomy was also one characteristic clinical feature.
D000328:Adult; D002675:Child, Preschool; D003230:Conjunctival Neoplasms / Q000235:genetics* / Q000648:ultrastructure; D003315:Cornea / Q000294:innervation*; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009377:Multiple Endocrine Neoplasia / Q000235:genetics* / Q000473:pathology; D009412:Nerve Fibers / Q000473:pathology*; D009463:Neuroma / Q000235:genetics* / Q000648:ultrastructure; D013577:Syndrome