1/110. Cranio-orbital-temporal neurofibromatosis: are we treating the whole problem?Cranio-orbital-temporal neurofibromatosis is an uncommon subtype of neurofibromatosis 1 characterized by pulsatile exophthalmos, orbital neurofibromas, sphenoid wing dysplasia, expansion of the temporal fossa, and herniation of the temporal lobe into the orbit. The cause of the sphenoid wing dysplasia is uncertain. Reconstruction of the sphenoid defect, separating the orbit and cranial vault, has been problematic because of resorption of bone grafts. This reports illustrates one potential cause of the sphenoid defect and a possible cause of the bone graft resorption.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
2/110. E.N.T. manifestations of Von Recklinghausen's disease.Von Recklinghausen's disease (VRD) is a neurocutaneous, systemic disease characterized by CNS tumors and disorders, cafe-au-lait spots, generalized cutaneous neurofibromata, skeletal deformities, and somatic and endocrine abnormalities. It is an autosomal dominant, hereditary disorder found in approximately 1:2500 to 3300 births. There are many manifestations of this disease in the head and neck region of interest to the otolaryngologist. case reports of three patients with multiple ENT involvements are detailed. A review of the literature is presented with a brief discussion of diagnosis and treatment. The most common intracranial tumor in the adult is the acoustic neuroma, usually bilateral, while in the child it is the astrocytoma. A defect in the sphenoid bone is common and may produce temporal lobe herniation into the orbit causing pulsatile exophthalmos. Involvement of the facial bones usually causes radiolucent defects secondary to neurofibromata within nerve pathways, and a variety of asymmetrical changes, especially within the mandible. "elephantiasis" of the face is a hypertrophy of the soft tissues overlying a neurofibroma, often quite extensive and disfiguring. Laryngeal and neck involvement may compromise the airway and early and repeated surgical intervention is required. The over-all malignancy rate approaches 30%, indicating that the patient with VRD may be predisposed to developing a malignancy. There appears to be an increased surgical risk in these patients, with some demonstrating abnormal responses to neuromuscular blockade.- - - - - - - - - - ranking = 9.0140412434595keywords = endocrine, bone (Clic here for more details about this article) |
3/110. Heterotopic pancreas, periampullary somatostatinoma and type I neurofibromatosis: a pathogenetic proposal.This case documents the association of ectopic pancreatic tissue with a duodenal somatostatinoma in a patient with type I neurofibromatosis. pancreatic ducts have been noted within the centres of somatostatinomas, but little significance has been attached to this finding. Here we describe a patient in whom a separate proliferation of somatostatin cells occurred in association with the ectopic pancreatic ductular epithelium. This lesion bore a striking resemblance to the ductulo-insular or ductulo-endocrine complexes that are seen in nesidioblastosis in the pancreas. We therefore postulate that the ducts, which are sequestered within somatostatinomas, are of pathogenetic significance. The somatostatin-producing cells arise from these ducts, very much in the fashion of ductulo-endocrine complexes in nesidioblastosis.- - - - - - - - - - ranking = 16.028082486919keywords = endocrine (Clic here for more details about this article) |
4/110. breast cancer associated with Recklinghausen's disease: report of a case.A 49-year-old woman with Recklinghausen's disease presented to our department for investigation of a left breast lump, measuring 60 mm x 50 mm, which she had first noticed 6 months earlier, but had disregarded, believing it to be another manifestation of her Recklinghausen's disease. The lump was suspected to be malignant based on physical examination and ultrasonography. biopsy and frozen sections subsequently confirmed a diagnosis of scirrhous carcinoma. A standard radical mastectomy was performed, followed by postoperative chemoendocrine therapy. However, lungs, liver, and bone metastasis, as well as a contralateral breast tumor, developed and she died 4 months after surgery.- - - - - - - - - - ranking = 8.5140412434595keywords = endocrine, bone (Clic here for more details about this article) |
5/110. Suboccipital meningocele presenting as a huge retropharyngeal mass in a patient with neurofibromatosis Type 1. Case report.The authors report an extremely rare case of neurofibromatosis Type 1 (NF1) with a suboccipital meningocele presenting as a huge retropharyngeal mass. A 73-year-old woman with typical cutaneous manifestations of NF1 presented with nasal obstruction and dysphagia due to a retropharyngeal mass. magnetic resonance imaging revealed a huge mass lesion extending from the right occipital bone defect to the retropharynx through the right paravertebral region. Computerized tomography scanning after intrathecal administration of contrast material confirmed that the mass was a meningocele protruding through a right occipital bone defect. The authors attempted to ligate this meningocele, most of which was excised via a suboccipital approach, but a second transcervical operation was required. Finally, the meningocele resolved and the patient was discharged without symptoms.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
6/110. Multiple endocrine adenomatosis of mixed type.A case of multiple endocrine adenomatosis (MEA) of mixed type is presented. The syndrome, observed in a 65 year-old female, consisted of multiple neurofibroadenomatosis, medullary thyroid carcinoma, multiple adenomata of the parathyroids, adrenal cortical adenoma and small cell anaplastic bronchogenic carcinoma. Thus, it was composed of type 1 as well as of type 2 MEA. On the basis of another seven cases, collected from the literature, the MEA syndrome of mixed type is reviewed with special reference to the phylogenetic origin of the cells of the APUD system.- - - - - - - - - - ranking = 40.070206217298keywords = endocrine (Clic here for more details about this article) |
7/110. The association of neurofibromatosis and hyperparathyroidism.Two patients with coexisting neurofibromatosis and hyperparathyroidism are described, bringing the total number of such cases in the world literature to seven. Other more classic examples of the association of tumorous conditions of neuroectodermal and entodermal origin are discussed to support the suggestion that the association of these two diseases may be another variant of multiple endocrine neoplasia type 2 (MEN2b). It may be clinically profitable to investigate all patients with either disease in order to uncover their coexistence.- - - - - - - - - - ranking = 8.0140412434595keywords = endocrine (Clic here for more details about this article) |
8/110. Diffuse but unilateral gingival enlargement associated with von Recklinghausen neurofibromatosis: a case report.BACKGROUND: An 8-year old girl was referred for diagnosis and treatment to the Department of Periodontology Oral Surgery of the University Hospital of Liege with an unusual clinical situation: a major, non-inflammatory, diffuse but unilateral enlargement of the interproximal, marginal and attached gingiva around all teeth of the right side of both the upper maxilla and mandible, whereas the alveolar process of the left side of upper and lower arches appeared strictly normal. METHOD: The clinical examination showed delayed eruption of some permanent teeth in the 1st and 4th quadrants. Except for its asymmetric occurrence, this gingival enlargement strongly resembled phenytoin-induced enlargement or gingival fibromatosis. This unilateral expression was evocative of a vascular or neurologic pathology. Several large "cafe-au-lait" spots were found disseminated on the body. Several selective surgical removals of thick gingival caps impairing the eruption of some permanent teeth were performed, and the removed tissues were histologically analyzed. RESULTS: Because of the presence of the large "cafe-au-lait" spots, a clinical diagnosis of Von Recklinghausen's disease was given and later confirmed several times by the histological analysis of the gingival biopsies. Now, 6 years later, this gingival enlargement due to the development of intra-gingival neurofibromas is stable and all permanent teeth have had a normal eruption, but alveolar bone growth has been partly impaired by the presence of the tumor. CONCLUSIONS: The present case of unilateral diffuse hyperplasia is a unique clinical expression of neurofibromatosis type I, a slowly evolving neurodermic dysplasia.- - - - - - - - - - ranking = 0.5keywords = bone (Clic here for more details about this article) |
9/110. Glandular malignant peripheral nerve sheath tumor: an unusual case showing histologically malignant glands.In this report, we describe a highly unusual case of glandular malignant peripheral nerve sheath tumor presenting as a neck mass in a previously healthy 29-year-old man. Grossly, the tumor was found to arise from a swollen peripheral nerve trunk. The tumor was largely composed of spindle cells that demonstrated marked nuclear pleomorphism and numerous abnormal mitotic figures. In addition, histologically malignant glandular structures lined by simple nonciliated columnar cells with goblet cells were found clustered in the center of the tumor. Examination of the swollen peripheral nerve trunk revealed the presence of a plexiform neurofibroma. The spindle cells were positive for S100. The glands were negative for S100 but positive for keratin, epithelial membrane antigen, and neuroendocrine markers (somatostatin, chromogranin, Leu-7, and calcitonin). This patient was subsequently diagnosed as having von Recklinghausen disease and died of tumor metastasis to the lungs 34 months after the presentation. To our knowledge, only 3 similar cases have been previously described in the literature.- - - - - - - - - - ranking = 8.0140412434595keywords = endocrine (Clic here for more details about this article) |
10/110. gigantism due to growth hormone excess in a boy with optic glioma.True gigantism is rare in early childhood and is usually due to excess GH secretion from a pituitary adenoma. We report a case in which the endocrine abnormality is secondary to an optic glioma. Careful endocrine evaluation has shown that GH peak amplitude was not increased but rather there was failure of GH levels to suppress to baseline and a lack of pulsatility. There is no evidence of a direct secretory role for the tumour and we postulate that the tumour is affecting GH secretion through an effect on somatostatin tone. Specific tumour therapy is not indicated for this patient in the absence of mass effect or visual disturbance. The GH excess is being treated with somatostatin analogue (octreotide) and as he has developed precocious puberty he is also receiving long acting GnRH analogue (Zoladex). This boy appears likely to have neurofibromatosis type 1 (NF1) which raises the question of subtle GH excess in NF1 patients with tall stature.- - - - - - - - - - ranking = 16.028082486919keywords = endocrine (Clic here for more details about this article) |
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