1/412. birt-hogg-dube syndrome and Hornstein-Knickenberg syndrome are the same. Different sectioning technique as the cause of different histology.The autosomal dominant inherited syndromes of Hornstein and Knickenberg (HKS), and Birt, Hogg and Dube (BHDS) are both characterized clinically by the overall spread of multiple flesh coloured papules of the skin. However, it is a matter of debate if colonic neoplasms (adenomas as well as adenocarcinomas) are associated findings in the HKS or rather in the BHDS. Furthermore, histological differences are said to exist between the skin lesions in the two syndromes: whereas perifollicular fibromas were described in the HKS, fibrofolliculomas and trichodiscomas were found in the BHDS. In the present study, we report on a father and his daughter in whom we initially diagnosed a BHDS. We then examined a greater number of the papular lesions in histologic sections cut vertically as well as horizontally to the epidermis. Our results indicate that the histologic differences between the skin lesions in the two syndromes are artificial ones, caused by interpretation of different sectioning planes, and that consequently HKS and BHDS are the same. Therefore, it is necessary to look for colonic polyps in the syndrome in question, regardless if one prefers the name HKS or BHDS for it.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
2/412. Unilateral laparoscopic adrenalectomy followed by contralateral retroperitoneoscopic partial adrenalectomy in a patient with multiple endocrine neoplasia type 2a syndrome.We report the first patient who had bilateral pheochromocytoma associated with multiple endocrine neoplasia type 2a syndrome (MEN 2a) and underwent unilateral laparoscopic adrenalectomy followed by contralateral retroperitoneoscopic partial adrenalectomy 2 years later. The postoperative course was uneventful both times, and the patient was cured of hypertension without any need for steroid replacement. Endoscopic partial adrenalectomy is a minimally invasive procedure for pheochromocytoma with mild symptoms. We believe that this procedure has considerable potential for treating bilateral pheochromocytoma, which is frequently observed in patients with MEN 2a.- - - - - - - - - - ranking = 5677.5945744739keywords = multiple endocrine, endocrine, endocrine neoplasia, multiple endocrine neoplasia, neoplasia (Clic here for more details about this article) |
3/412. kearns-sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial dna deletion.kearns-sayre syndrome (KSS) and Pearson's marrow-pancreas syndrome (PMPS) are rare disorders caused by the same molecular defect, one of several deletion mutations in mitochondrial dna (mtDNA). KSS is an encephalomyopathy with ophthalmoplegia, retinal degeneration, ataxia, and endocrine abnormalities. PMPS is a disorder of childhood characterized by refractory anemia, vacuolization of bone marrow cells, and exocrine pancreas dysfunction. Children with PMPS that have a mild phenotype, or are supported through bone marrow failure, often develop the encephalomyopathic features of KSS. The subject of numerous reports in the neuromuscular, genetic, and pediatric literature in recent years, very few cases of either disorder have ever been studied at autopsy. We report the results of our studies of a patient with clinically documented KSS who presented with renal dysfunction and was found to have a novel mtDNA deletion and degenerative changes in the central nervous system, retina, skeletal muscle, and pancreas.- - - - - - - - - - ranking = 381.74676321561keywords = endocrine (Clic here for more details about this article) |
4/412. Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome.McCune-Albright syndrome consists of fibrous dysplasia of bone, cafe-au-lait skin pigmentation, and endocrine dysfunction (usually precocious puberty). Other endocrine abnormalities occur in a minority of patients, and of these, Cushing's syndrome is the least often recognized. We present 5 children (4 girls) with features of McCune-Albright syndrome who had Cushing's syndrome in the infantile period (<6 months). In 2 children spontaneous resolution occurred, but the remaining 3 required bilateral adrenalectomy. In addition, all 4 girls have experienced precocious puberty, and 3 children demonstrated radiologic evidence of nephrocalcinosis. Understanding of the underlying defect causing McCune-Albright syndrome emphasizes the importance of searching for other endocrine dysfunction in these children.- - - - - - - - - - ranking = 1145.2402896468keywords = endocrine (Clic here for more details about this article) |
5/412. carney complex: in a patient with multiple blue naevi and lentigines, suspect cardiac myxoma.carney complex is characterized by spotty pigmentation (blue naevi and lentigines), myxomas (cardiac, cutaneous, mammary), endocrine over-activity (Cushing's syndrome, acromegaly), testicular tumours, and schwannomas. We report a male with multiple blue naevi, lentigines, testicular large cell calcifying Sertoli-cell tumour and four cardiac myxomas. The myxomas caused two cerebrovascular accidents and a myocardial infarction. All patients with multiple blue naevi or lentigines should be investigated for the life-threatening association of cardiac myxomas.- - - - - - - - - - ranking = 381.74676321561keywords = endocrine (Clic here for more details about this article) |
6/412. Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome.We report a 35-year-old man with hereditary cerebroretinal vasculopathy (CRV) characterized by retinal microvascular changes and a right frontal intracerebral mass lesion that suggested a brain tumor. Histopathologic analysis of the patient's brain lesion as well as reviewed specimens of the patient's mother, who had reportedly died of a brain tumor, showed no neoplasia but did show cerebral microvasculopathy. CRV should be considered as a differential diagnosis for patients with intracerebral mass lesions, retinal vascular changes, and a positive family history of "brain tumors."- - - - - - - - - - ranking = 26.462237153277keywords = neoplasia (Clic here for more details about this article) |
7/412. muir-torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature.BACKGROUND: muir-torre syndrome is a rare autosomal dominant genodermatosis, first described in 1967, characterized by the presence of sebaceous tumors and an internal malignancy in the absence of other predisposing factors. OBJECTIVE: Our purpose was to review and update published literature on muir-torre syndrome. methods: We describe a 66-year-old white man with a history of sebaceous tumors and newly diagnosed transitional cell cancer of the right ureter and adenocarcinoma of the jejunum. The literature on muir-torre syndrome is reviewed by means of medline search and available published reports and updated. RESULTS: Only 205 cases of muir-torre syndrome with 399 internal malignancies have been reported. The common presentation is the presence of sebaceous tumors along with a low-grade visceral malignancy. Sebaceous tumors appeared before the internal malignancy in 45 cases (22%), concurrently in 12 (6%), and after the internal malignancy in 114 (56%). In 33 (16%) of 205 patients, a temporal relationship was not reported. The total number of sebaceous gland carcinomas reported is 44; 17 of 44 were neoplasms of the meibomian gland. Keratoacanthomas have been noted in 48 (23%) of 205 patients. Gastrointestinal cancers are the most common internal malignancies (61%), followed by genitourinary (22%). CONCLUSION: The presence of sebaceous tumors warrants a search for an internal malignancy. In patients with muir-torre syndrome, regular follow-up and search for new malignancy is mandatory. Evaluation and monitoring of the family members of patients are also necessary. patients and their families should be counseled for genetic testing. Genetic analysis of the primary tumor and skin lesions should be arranged as an added research tool if possible to better understand the disease.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
8/412. Carcinoid syndrome caused by an atypical carcinoid of the uterine cervix.neuroendocrine tumors of the cervix are rare and are often under- or misdiagnosed. Because these tumors are very aggressive, early diagnosis and subsequent treatment are warranted. We describe a 46-yr-old woman with carcinoid syndrome caused by an atypical carcinoid of the uterine cervix. At age 44, she had dysplasia on Pap smear and underwent total abdominal hysterectomy with the diagnosis of adenocarcinoma. Fourteen months postoperatively, she developed the carcinoid syndrome and was found to have numerous liver metastases. Histological and immunohistochemical investigations of biopsy specimens from the patient's liver lesions and original cervical lesion ("adenocarcinoma") suggested that this woman had a primary atypical carcinoid of the uterine cervix with metastases to the liver. Treatment with octreotide and alkylating agents decreased the episodes of flushing and diarrhea within 8 weeks. If an adenocarcinoma of the uterine cervix is diagnosed, atypical carcinoid should be in the differential diagnosis. Symptoms of the carcinoid syndrome should be pursued and, if present, a urinary 5-hydroxyindolacetic acid level should be obtained. Timely diagnosis of a neuroendocrine tumor of the cervix may improve survival.- - - - - - - - - - ranking = 763.49352643122keywords = endocrine (Clic here for more details about this article) |
9/412. Gordon Holmes spinocerebellar ataxia: a gonadotrophin deficiency syndrome resistant to treatment with pulsatile gonadotrophin-releasing hormone.The Gordon Holmes spinocerebellar ataxia syndrome (GHS) is associated with idiopathic hypogonadotrophic hypogonadism (IHH). There are conflicting reports in the literature as to whether the primary neuroendocrine defect is of hypothalamic GnRH secretion, as with most causes of IHH, or of pituitary resistance to GnRH action. Because of the anatomical inaccessibility of the hypophyseal portal circulation, direct measurement of GnRH levels in human subjects is not possible. Previous investigators have attempted to unravel this problem through the use of GnRH stimulation tests and the limitations of this approach may explain the differing results obtained. We used the more physiological approach of treating a male GHS patient for four weeks with GnRH, 7-10 microg/pulse, delivered subcutaneously at 90 minute frequency via a portable minipump. This therapy failed to induce any rise in plasma gonadotrophin and testosterone concentrations. By contrast, eight weeks treatment with exogenous gonadotrophins maintained physiological plasma testosterone concentrations and induced testicular enlargement with induction of spermatogenesis. The data indicate that the primary endocrinopathy in GHS is of pituitary gonadotrophin secretion and not of hypothalamic GnRH. Moreover, the patient did not harbour any mutation of the GnRH receptor gene. Two clinical observations are consistent with progressive involution of gonadotrophic function, rather than a congenital gonadotrophin deficiency. First, the patient's development was arrested at early mid-puberty at the time of original presentation and, second, effective spermatogenesis was induced extremely rapidly during gonadotrophin treatment, suggesting prior exposure of the testes to FSH. Both spinocerebellar ataxia and pituitary dysfunction might thus have been in evolution since late childhood.- - - - - - - - - - ranking = 381.74676321561keywords = endocrine (Clic here for more details about this article) |
10/412. Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review.The neonatal progeroid syndrome (NPS), or Wiedemann-Rautenstrauch, is a rare autosomal recessive disorder comprised of generalized lipoatrophy except for fat pads in the suprabuttock areas, hypotrichosis of the scalp hair, eyebrows, and eyelashes, relative macrocephaly, triangular face, natal teeth, and micrognathia. We report on 5 new patients who demonstrate phenotypic variability and who represent the single largest series of NPS reported to date. Two of the patients are from an African-American kindred, an ethnic occurrence not reported previously. The fact that there are 2 pairs of sibs among the 5 patients further supports that NPS is an autosomal recessive condition. This report also includes a review of the previously reported 16 patients and compares them with the 5 new patients. Abnormalities in endocrine and lipid metabolism were found in 3 of 5 patients. Skeletal findings in 2 of our patients demonstrated some new findings as well as the typical radiological abnormalities previously noted in NPS. It is apparent, based on the 21 cases, that mild to moderate mental retardation is common in NPS. Long term follow-up of patients with NPS should provide more information relative to their ultimate psychomotor development. NPS is usually lethal by 7 months; however, on rare occasions, patients have survived into the teens. Our 3 surviving patients range in age from 16-23 months. Variability in the phenotype of NPS is clear; however, the phenotype remains distinct enough to allow a secure diagnosis.- - - - - - - - - - ranking = 381.74676321561keywords = endocrine (Clic here for more details about this article) |
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