1/48. 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 = 1keywords = endocrine (Clic here for more details about this article) |
2/48. hypopigmentation of a papillary carcinoma arising in a black thyroid.We report a case of an unpigmented papillary carcinoma arising in a black thyroid induced by minocycline. Black thyroid syndrome is an unusual pigmented change seen almost exclusively in patients on minocycline, apparently resulting from an oxidative interaction between thyroid peroxidase and the drug. Twenty-six cases have previously been reported in the English literature, nine of which described an associated thyroid neoplasm. Four of these nine neoplasms were described as pale or hypopigmented. The nature of the lesion against the background of pigmentation suggests diminished function of the thyroid peroxidase in this clonal population.- - - - - - - - - - ranking = 0.0012234523771336keywords = neoplasm (Clic here for more details about this article) |
3/48. 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 = 2.0129944725975keywords = endocrine, multiple endocrine, neoplasia (Clic here for more details about this article) |
4/48. Primary meningeal rhabdomyosarcoma in a child with hypomelanosis of Ito.Intracranial rhabdomyosarcomas are rare neoplasms, and those thought to be primary meningeal tumors are even more rare. Hypomelanosis of Ito is a neurocutaneous disorder believed to involve a defect in cells of neural crest origin. We report the case of a 15-month-old boy with hypomelanosis of Ito who developed a primary meningeal rhabdomyosarcoma. The patient initially presented with hydrocephalus and 2 months later developed neurologic signs localizing to the spinal cord. Radiologic studies revealed widespread leptomeningeal enhancement with compression of the spinal cord at C5-C7. A brain biopsy revealed a tumor diffusely involving the meninges. Microscopically, the tumor was composed of rhabdomyoblasts, many of which showed prominent cross-striations on routine hematoxylin-eosin staining. To the best of our knowledge, this is the first reported case of meningeal rhabdomyosarcoma in a patient with hypomelanosis of Ito and the fourth reported case of a primary meningeal rhabdomyosarcoma reported in the world literature.- - - - - - - - - - ranking = 0.00061172618856681keywords = neoplasm (Clic here for more details about this article) |
5/48. Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease.Primary pigmented nodular adrenocortical disease (PPNAD) is a cause of ACTH-independent Cushing's syndrome. This condition can be difficult to diagnose because hypercortisolism may be periodic and adrenal imaging may not demonstrate an adrenal tumor. PPNAD can be part of the carney complex (CNC), an autosomal dominant multiple neoplasia syndrome. Germline mutations of the regulatory subunit R1A of PKA (PRKAR1A) have been observed in about 45% of CNC kindreds. To improve our understanding of sporadic PPNAD and develop a potential diagnostic tool, we investigated the genetics of patients with sporadic and isolated PPNAD. patients undergoing surgery for bilateral ACTH-independent Cushing's syndrome in whom pathological examination revealed PPNAD were subjected to endocrinological investigations and a systematic search for other manifestations of CNC. The PRKAR1A gene was sequenced using dna from frozen adrenal tissues and leukocytes from three patients with sporadic isolated PPNAD and using leukocyte dna from two additional patients. Different inactivating germline mutations of the PRKAR1A gene were found in the five patients. For three cases, study of the parents' dna demonstrated a de novo mutation. One patient presented with an unusual 2.5-cm macronodule of the right adrenal mimicking an adrenal adenoma. A somatic 16-bp deletion of PRKAR1A gene was also found in this macronodule. Inactivating germline mutations of PRKAR1A are frequent in sporadic and isolated cases of PPNAD. The wild-type allele can be inactivated by somatic mutations, consistent with the hypothesis of the gene being a tumor suppressor gene. Thus, genetic analysis can be of help to the clinician in the diagnosis of this difficult form of adrenal Cushing's syndrome.- - - - - - - - - - ranking = 0.043962930411303keywords = neoplasia (Clic here for more details about this article) |
6/48. Aortic regurgitation and pigmentation - unusual features of noonan syndrome.A patient with typical features of Noonan's syndrome showed aortic regurgitation and widespread diffuse hyperpigmentation, features not previously associated with this syndrome. Detailed endocrine and dermatological studies failed to delineate the cause of hyperpigmentation. In addition to mild aortic regurgitation, cardiac catheterization revealed mild left ventricular dysfunction, probably due to primary myocardial disease. Other interesting findings included lymphedema and sexual infantilism despite normal testosterone levels.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
7/48. dyskeratosis congenita associated with three malignancies.dyskeratosis congenita is a rare inheritable disorder characterized by abnormalities of the skin, nails and oral mucosa. Aplastic anaemia resulting from bone marrow hypoplasia is a frequent cause of death. Squamous cell carcinoma developing from leukoplakia and visceral malignancies are other complications of the disease. We report here a case of dyskeratosis congenita in a man who developed three neoplasias of different systems over a period of many years. Squamous cell carcinoma and gastric adenocarcinoma manifested 17 years after the man was diagnosed with Hodgkin's disease.- - - - - - - - - - ranking = 0.043962930411303keywords = neoplasia (Clic here for more details about this article) |
8/48. Addison's crisis in adolescent patients with previously diagnosed diabetes mellitus as manifestation of polyglandular autoimmune syndrome type II--report of two patients.We report on two female adolescents--both diagnosed with type 1 diabetes mellitus in early childhood--who presented with signs of severe metabolic decompensation. In both cases recompensation was difficult, and during the stay in hospital increasing discoloration of palmar creases was observed. ACTH testing demonstrated cortisol deficiency in both patients. In addition, autoimmune thyroiditis was diagnosed in one patient. As a polyglandular autoimmune syndrome was suspected, autoantibody studies were performed and the presence of autoantibodies against thyroid and adrenal tissue was established. Polyglandular autoimmune syndrome (PGA) type II can lead to subsequent manifestation of deficiencies of several endocrine glands. Although PGA type II usually presents at a more advanced age, adolescents may also present with the full spectrum of the disease. Especially in the presence of Addison's disease, life-threatening situations can develop rapidly. Coloration of palmar skin creases of patients with known type I diabetes mellitus should serve as a warning sign to be followed up with investigation of endocrine functions.- - - - - - - - - - ranking = 2keywords = endocrine (Clic here for more details about this article) |
9/48. Pigmented lesions of the oral cavity: review, differential diagnosis, and case presentations.Pigmented lesions are commonly found in the mouth. Such lesions represent a variety of clinical entities, ranging from physiologic changes to manifestations of systemic illnesses and malignant neoplasms. Evaluation of a patient presenting with a pigmented lesion should include a full medical and dental history, extraoral and intraoral examinations and, in some cases, biopsy and laboratory investigations. In this paper, an algorithm is proposed for the assessment of pigmented lesions of the oral cavity, and 3 patients with such lesions are described.- - - - - - - - - - ranking = 0.00061172618856681keywords = neoplasm (Clic here for more details about this article) |
10/48. Recurrent malignant melanoma of the corneal stroma: a case of 'black cornea'.A 39-year-old Caucasian woman with a history of recurrent conjunctival melanoma of her right eye developed an intrastromal heavily pigmented malignant melanoma, which involved the whole corneal diameter. The patient was treated by corneoscleral lamellar keratoplasty and there has been no evidence of recurrent neoplasm during 4 years of follow-up. This apparently unique presentation of malignant melanoma of the cornea is illustrated and the differential diagnosis of corneal pigmentation is discussed.- - - - - - - - - - ranking = 0.00061172618856681keywords = neoplasm (Clic here for more details about this article) |
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