Syndrome of multiple mucosal neurofibromas, pheochromocytoma and medullary thryoid carcinoma. Report of a case.
The present article reports a case of multiple endocrine neoplasia (MEN) syndrome, type IIb, including the following components: pheochromocytoma, medullary thyroid carcinoma, hyperplastic corneal nerves and multiple mucosal oral and ocular neurofibromas. The patients, a 35-year-old male also exhibited a series of other pertinent findings, i.e. thickened eyelids, marfanoid habitus and widened mandibular canal and mental foramina. In the discussion the clinical and histopathologic characteristics of the present case are compared with similar findings in other previously published cases. The multiple oral mucosal neurofibromas are described clinically and histopathologically and are stated as a pathognomonic early sign of the syndrome.
D000328:Adult; D002277:Carcinoma / Q000473:pathology*; D003315:Cornea / Q000294:innervation / Q000473:pathology; D005134:Eye Neoplasms / Q000473:pathology; D005143:Eyelids / Q000473:pathology; D006801:Humans; D006965:Hyperplasia; D008046:Lip / Q000473:pathology; D008297:Male; D009061:Mouth Mucosa / Q000473:pathology; D009062:Mouth Neoplasms / Q000473:pathology; D009378:Neoplasms, Multiple Primary; D009456:Neurofibromatosis 1 / Q000473:pathology*; D010673:Pheochromocytoma / Q000473:pathology*; D013577:Syndrome; D013964:Thyroid Neoplasms / Q000473:pathology*; D014059:Tongue / Q000473:pathology