1/60. Neuromas and prominent corneal nerves without MEN 2B.PURPOSE: We studied a family composed of 2 members with the characteristic phenotype of the MEN 2B and without RET protooncogene mutations in order to determine whether they had multiple endocrine neoplasia associated with MEN 2B in the 5-year follow-up. SUBJECTS AND methods: The family consisted of a 15 year old female complaining of burning eyes, examined ophthalmologically in 1992 and her mother and sister, who were examined later on in 1992. The proband and the mother were affected with multiple mucosal neuromas and visible corneal nerves. pentagastrin-stimulated serum calcitonin levels, catecholamines, serum calcium and phosphate levels were measured. Molecular genetic studies were performed on the 2 affected members to look for the specific RET mutation seen in MEN 2B. RESULTS: Endocrine neoplasia of the syndrome MEN 2B, medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism, were ruled out in the first examination and after 5-year follow-up. In the 2 cases no mutation at codon 918 for the RET proto-oncogene was found. CONCLUSIONS: We consider that familial multiple mucosal neuromas are a highly distinctive entity of MEN 2B.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
2/60. Treatment of painful neuromas: a case report.The authors report a 15-year history of management of multiple recurrent neuromas in a patient with an amputated arm. Various surgical modalities were employed, including burying the nerve ends in muscle and bone. In addition, they also treated successfully one of the neuromas in this patient by capping the transected nerve with an extended autologous vein graft. This application of the extended autologous venous nerve conduit may be a novel alternative in the treatment of this challenging problem.- - - - - - - - - - ranking = 0.00079006420384035keywords = bone (Clic here for more details about this article) |
3/60. temporal bone findings in multiple endocrine neoplasia type 2b.To our knowledge, present case is the first published report of temporal bone findings in multiple endocrine neoplasia type 2b (MEN-2B). We describe a 43-year-old Japanese man with medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuroma and a Marfanoid body habitus. The collateral adrenal tumors and MTC were removed surgically. However, 14 years after surgery, the MTC and pheochromocytoma recurred and the patient died of intracranial hemorrhage due to hypertension. During the autopsy, metastatic MTC was detected in the liver, lungs, kidneys, pancreas and cervical lymph nodes. Recurrent pheochromocytoma was present in the right kidney. Mucosal neuromas were found in the tongue, gastrointestinal tract and vesical nerve plexus. The following histopathological findings were seen in both temporal bones: metastatic MTC was found as well as neuromas and the cochlear aqueduct was widely patent.- - - - - - - - - - ranking = 5.004740385223keywords = endocrine, bone (Clic here for more details about this article) |
4/60. From eyelid bumps to thyroid lumps: report of a MEN type IIb family and review of the literature.PURPOSE: We present a two-generation family with multiple endocrine neoplasia (MEN) type IIb diagnosed by their ophthalmologists based on characteristic ophthalmic findings. methods: A family consisting of a 33-year-old female proband and her 8- and 7-year-old children had prominent corneal nerves; eyelid, lip, and tongue nodules; and a characteristic facies. A polymerase chain reaction-based genetic assay was obtained to detect the genetic mutation most commonly associated with MEN type IIb. serum calcitonin and urine catecholamine studies were obtained. RESULTS: Molecular genetic studies detected in all 3 patients a mutation at codon 918 of the RET proto-oncogene known to be present in 95% of the cases of MEN type IIb. serum calcitonin was elevated in the proband and her son. urine catecholamine levels were elevated in the proband. Surgical treatment and histologic analysis confirmed pheochromocytoma and medullary thyroid carcinoma (MTC) in the proband. Surgical exploration revealed the MTC to be metastatic to the liver. CONCLUSIONS: This family demonstrates the characteristic findings of MEN type IIb: prominent corneal nerves in a clear stroma and multiple submucosal neuromas of the conjunctiva, eyelids, lips, and tongue. Ophthalmologists have a critical role to play in recognizing these signs, because the early diagnosis of medullary thyroid carcinoma and pheochromocytoma may be life saving.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
5/60. multiple endocrine neoplasia type 2b.We report a case of multiple endocrine neoplasia type 2b (MEN 2B) in a 30-year-old woman. There was no family history of MEN 2B in her family. dna testing was carried out and a point mutation was found in exon 16, codon 918 (ATG to ACG) in the RET proto-oncogene. The woman died of medullary thyroid carcinoma, 13 years after a total thyroidectomy.- - - - - - - - - - ranking = 5keywords = endocrine (Clic here for more details about this article) |
6/60. Extradural neuromas at the petrous apex: report of two cases.OBJECTIVE AND IMPORTANCE: Two rare cases of middle cranial fossa neuroma located in the epidural space at the petrous apex are reported. CLINICAL PRESENTATION: Two women, aged 58 and 49 years, were admitted to our hospital with diagnoses of cavernous sinus tumor. Analysis of preoperative computed tomography scans showed bone erosion of the petrous apex, and magnetic resonance imaging demonstrated the presence of an extradural mass located along the course of the petrous internal carotid artery in both patients. INTERVENTION: The tumor was completely removed in one patient and partially removed in the other by use of the epidural middle cranial fossa transpetrosal approach. In both patients, histological examination of tumor specimens revealed neuroma. CONCLUSION: Because surgical exploration revealed that these epidural tumors adhered tightly to the internal carotid artery, and because they had no relationship to the trigeminal nerve, facial nerve, or proximal greater superficial petrosal nerve, in our opinion, these tumors originated from the distal portion of the greater superficial petrosal nerve or the deep petrosal nerve. These neuromas were mainly found in a site under the cavernous sinus at the petrous apex, a location not previously reported.- - - - - - - - - - ranking = 0.00079006420384035keywords = bone (Clic here for more details about this article) |
7/60. Multiple idiopathic mucocutaneous neuromas: a new entity?We report a 53-year-old woman who presented with multiple painful red cutaneous papules that had been growing slowly for 13 years. Histopathology showed typical features of neuroma. Biological, morphological and genetic investigations were negative and excluded the diagnosis of multiple endocrine neoplasia type 2b. After reviewing the literature, we concluded that our patient has an extremely unusual acquired disease, which must be considered as a distinct entity in the spectrum of cutaneous neurological disorders.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
8/60. Laryngeal solitary multiple mucosal neuromas without multiple endocrine neoplasia (MEN) type 2B.The first case of laryngeal solitary multiple mucosal neuromas (MMN) was reported. A 73-year-old man who had complained of hoarseness and abnormal prickly sensation in the throat for 3 months visited our hospital. Many small whitish-yellow nodules were observed in the laryngeal mucosa from the right arytenoid to the interarytenoid region. Using laryngomicroscopy biopsy was performed twice. The pathological study showed neurogenic nodular lesions consisting of regularly arranged nerve bundles with many axons and Schwann cell proliferation, and so MMN was finally diagnosed. As MMN is regarded as a constant component of multiple endocrine neoplasia (MEN) type 2B, screening of MEN type 2B was performed, however, they were all within normal limits. This case was, therefore, diagnosed as a laryngeal solitary MMN without MEN type 2B.- - - - - - - - - - ranking = 5keywords = endocrine (Clic here for more details about this article) |
9/60. Multiple endocrine neoplasia syndrome--type 2b. Case report and review.The multiple endocrine neoplasia syndromes are an association of tumours of 2 or more endocrine glands. multiple endocrine neoplasia type 2b (MEN 2b) patients develop medullary thyroid carcinoma and pheochromocytomas as well as unique physical characteristics. Most commonly, MEN2b is inherited with an autosomal dominant pattern although sporadic cases are not uncommon. If untreated the disease may be lethal. The facial, oral and ocular characteristics are reliable markers of the disease. These patients give a history most commonly of slipped capital femoral epiphysis, hypertension and life-long diarrhoea and/or constipation. MEN2b is most commonly characterised by nodules on the anterior aspect of the tongue, thickened lips with nodules, thickened upper eyelids, broadened nasal bridge, thickened corneal nerves and dilated, symmetrical, pedunculated nodules on the cheek mucosa. The patient described has most of these characteristics. Radiographic features of the jaws which have not been previously described are reported. These include a markedly enlarged and bifurcated inferior alveolar canal and shortened roots of the lower incisor teeth. Due to the lethality of the disease, patients who present with the above physical characteristics must be further investigated to exclude MEN2b.- - - - - - - - - - ranking = 7keywords = endocrine (Clic here for more details about this article) |
10/60. Mucosal neuromas and prominent corneal nerves without MEN IIB.Multiple endocrine neoplasia type II B or the mucosal neuroma syndrome is an autosomal dominant hamartoneoplastic syndrome. This is a report of a 17 year old female who presented with mucosal neuromas at age 7 years and had surgical excision of the lesion. Ten years later (at age 17 years) she had further recurrence of mucosal neuromas which were again surgically excised. She has been thoroughly investigated & followed, however to date she has no evidence of thyroid carcinoma which is a major complication of this syndrome.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
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