1/28. 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) |
2/28. 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 = 1keywords = endocrine (Clic here for more details about this article) |
3/28. 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) |
4/28. 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) |
5/28. McCune-Albright syndrome with multiple bilateral cafe au lait spots.A 7-week-old infant developed hyperpigmented lesions at 5 days of age that gradually progressed to sharply demarcated, medium-brown macules of unusual configuration involving the neck, trunk, buttocks, upper arms, and right upper thigh. A biopsy specimen of a representative lesion showed changes of epidermal melanosis consistent with cafe au lait spot. At age 15 months the patient developed a limp. Roentgenographic evaluation showed widespread, bilateral changes of fibrous dysplasia, most severe in the right pelvis, femur, and tibia. At the present time he has no evidence of precocious puberty or other endocrinopathies. Despite the absence of endocrine abnormalities, these findings are consistent with a diagnosis of McCune-Albright syndrome with extensive bony and cutaneous lesions.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
6/28. Autosomal dominant transmission of the NAME syndrome (nevi, atrial myxoma, mucinosis of the skin and endocrine overactivity).A family affected in two generations with the NAME syndrome is described, and the literature on this phenotype reviewed. The term "NAME" was originally proposed as an acronym for "nevi, atrial myxoma, myxoid neurofibromata and ephelides". However, in order to give a more comprehensive description of this syndrome, we recommend the following alternative interpretation of "NAME": nevi, atrial myxoma, mucinosis of the skin, endocrine overactivity. Previous family observations suggested a dominant, and probably autosomal, inheritance but an X-linked dominant transmission could not be excluded. We describe male-to-male transmission, strongly supporting the concept of the autosomal inheritance of this trait.- - - - - - - - - - ranking = 5keywords = endocrine (Clic here for more details about this article) |
7/28. Psammomatous melanotic schwannoma: an additional component of Carney's complex. Report of a case.The authors report a case of Carney's complex (the complex of myxomas, spotty pigmentation, and endocrine overactivity) in a 32-year-old white man. Psammomatous melanotic schwannoma has recently been included as a component of this disorder. The complex was recognized after a psammomatous melanotic schwannoma was resected from the sacral canal. Subsequent echocardiography revealed ventricular cardiac myxomata. Resection of these lesions was successfully performed. review of previous history and pathologic material further supported the diagnosis. The authors conclude that recognition of each component as part of the syndrome is of crucial importance, because it may prevent a fatal outcome. A family screening program should be performed in each case.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
8/28. Bilateral eyelid myxomas in Carney's complex.A 21-year-old man with a history of an excised soft tissue mass of the groin and spotty cutaneous pigmentation underwent excision of nodules of the right lower and left upper eyelids. The patient subsequently had a cutaneous mass of the left ear removed. All excised lesions were classified as myxomas. A diagnosis of multiple myxoma, spotty pigmentation, and endocrine overactivity (Carney's) complex was made.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
9/28. Mucocutaneous pigmented spots and oral myxomas: the oral manifestations of the complex of myxomas, spotty pigmentation, and endocrine overactivity.The complex of myxomas, spotty pigmentation, and endocrine overactivity is a recently recognized syndrome, transmitted as an autosomal dominant trait. The most serious component of the disorder is cardiac myxoma, which has caused the death of one fourth of the affected patients and serious disability in an equal number. It is, therefore, important to recognize patients at risk from the syndrome and, in particular, to test them for cardiac myxoma. Fortunately, in many patients the myxoma complex has a clearly visible marker: mucocutaneous pigmentation. Among 58 patients with the syndrome, spotty facial pigmentation was present in 36 (62%), and 29 (50%) of these also had pigmented spots on their lips. This type and distribution of pigmentation should be a clue to the possible presence of the complex of myxomas, spotty pigmentation, and endocrine overactivity, and patients thus affected should be referred for further investigation. Oral cavity myxoma(s) occurred in four patients with the syndrome.- - - - - - - - - - ranking = 6keywords = endocrine (Clic here for more details about this article) |
10/28. Linear cutaneous neuromas (dermatoneurie en stries): a limited phakomatosis with striated pigmentation corresponding to cutaneous hyperneury (featuring multiple endocrine neoplasia syndrome?).A 60-year-old woman developed a progressive linear pigmentation on the trunk. skin biopsy demonstrated an increase in the number and size of neural fibers in the dermis. Clinical and paraclinical investigations of this unusual disease showed findings similar to the hereditary type of Sipple syndrome (multiple endocrine neoplasia syndrome, Type 2b). Such findings as Marfanoid habitus, abnormal electromyography and hypertrophy of the corneal nerves suggest that our patient's disease and Sipple syndrome are identical. However, such other symptoms of Sipple syndrome as presence of endocrine tumors are absent. Questions of long-term prognosis and physiopathogenicity are raised, since no nerve growth factor was detected in this patient. The name of linear cutaneous neuromas is suggested for the patient's lesions, and a possible association with the pigmentation and cutaneous neuromas of the MEN 2b syndrome.- - - - - - - - - - ranking = 6keywords = endocrine (Clic here for more details about this article) |
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