1/271. Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes.OBJECTIVE: To describe prenatal genetic diagnosis in hyperprostaglandin E syndrome (HPS) and the effect of indomethacin therapy on the course of the disease before birth and in the neonatal period. methods: Mutational analysis of the ROMK channel gene (KCNJ1) from amniocytes by single-strand conformational analysis and direct sequencing. review of the clinical and laboratory findings during pregnancy and the neonatal period in two siblings affected with HPS. RESULTS: Compound heterozygosity of the fetus in KCNJ1 (D74Y/P110L) confirmed the clinical diagnosis of HPS at 26 weeks of gestation. indomethacin therapy from 26 to 31 weeks prevented further progression of polyhydramnios without major side effects. In contrast to the elder brother, who had been diagnosed at the age of 2 months, the neonatal course was uncomplicated. Hypovolemic renal failure after excessive renal loss of salt and water could be prevented and severe nephrocalcinosis did not occur. CONCLUSIONS: Genetic diagnosis of HPS and subsequent prenatal indomethacin therapy seems to have a beneficial effect on the natural course of HPS, especially progression of polyhydramnios; therefore, extreme prematurity could be prevented. Also, postnatally the early diagnosis allows the effective water and electrolyte substitution before severe volume depletion.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
2/271. HIV-associated parotid lymphoepithelial cysts.BACKGROUND: An outstanding feature of the diffuse infiltrative lymphocytosis syndrome, or DILS, a subset of hiv-1 disease, is asymptomatic bilateral parotid swelling. Recognition of the entity is important because people with this disease will seek routine dental care. CASE DESCRIPTION: The authors present a classic case of DILS. The patient exhibited bilateral parotid swellings caused by lymphoepithelial cysts, cervical lymphadenopathy, a CD8 circulating lymphocytosis and a CD8 lymphocytic infiltration into the labial salivary glands. A right superficial parotidectomy had been performed several years previously. However, no intervention was advised for the remaining left parotid because of its benign course. CLINICAL IMPLICATIONS: Since patients with DILS can develop lymphomas, periodic observation is mandatory. Any change in the growth pattern requires that a fine-needle aspiration biopsy be performed.- - - - - - - - - - ranking = 0.2keywords = gland (Clic here for more details about this article) |
3/271. A case of multiple sebaceous epithelioma: analysis of microsatellite instability.Sebaceous gland tumor is a rare disease that is a sign of muir-torre syndrome, an autosomal, dominantly inherited genodermatosis characterized by the presence of at least one sebaceous gland tumor and a minimum of one internal malignancy. Recent studies have indicated that defective dna mismatch repair occurs in muir-torre syndrome. Cutaneous lesions may occur before diagnosis of the internal cancer. We describe a 64-year-old male patient with multiple sebaceous epitheliomas with no evident internal malignancy. microsatellite instability, determined by examining dinucleotide CA repeats at the microsatellite loci, was observed in DNA from one sebaceous epithelioma but not from the other two sebaceous epitheliomas or from one basal cell epithelioma with sebaceous differentiation, suggesting that this condition is unlikely to be due to germ-line mutation of mismatch repair genes.- - - - - - - - - - ranking = 0.4keywords = gland (Clic here for more details about this article) |
4/271. Secretory villous adenomas that cause depletion syndrome.Secretory villous adenomas of the colon have been known to cause a depleting syndrome characterized by dehydration, prerenal azotemia, hyponatremia, hypokalemia, metabolic acidosis, obtundation, and, in severe cases, death. We describe 1 case of classic depleting syndrome and review the literature on possible mechanisms. Both cyclic adenosine monophosphate and prostaglandin E2 have been implicated as possible secretagogue compounds in the pathogenesis of this syndrome unique to the secretory variant form of villous adenomas. indomethacin as a prostaglandin inhibitor has been used with apparent benefit in controlling the volume of rectal effluent in patients with secretory villous adenomas.- - - - - - - - - - ranking = 0.4keywords = gland (Clic here for more details about this article) |
5/271. A Rapp-Hodgkin like syndrome in three sibs: clinical, dental and dermatoglyphic study.Rapp-Hodgkin ectodermal dysplasia is an autosomal dominant disorder characterized by distinctive craniofacies, cleft lip or palate, oligodontia or anodontia, hypoplasia of the nails, and a decrease in or absence of the sweat glands and hair follicles. We have identified a family in which three children display clinical features similar to Rapp-Hodgkin syndrome. The father and two other sisters of the patient had normal facial features, but had short stature and had dental anomalies, the latter suggestive of ectodermal dysplasia. The overall clinical, dental, and dermatoglyphic findings of these patients are discussed in relation to reports of families with Rapp-Hodgkin syndrome.- - - - - - - - - - ranking = 0.2keywords = gland (Clic here for more details about this article) |
6/271. hypoparathyroidism secondary to Riedel's thyroiditis. A case report and a review of the literature.Riedel's thyroiditis is a rare condition in which the thyroid gland is replaced by fibrous tissue. fibrosis in various distant sites is a possible concomitant event. We report a case of Riedel's thyroiditis complicated by mediastinal fibrosis, a tumefactive fibro-inflammatory lesion of the neck and primary hypothyroidism. A review of the literature in which only 8 previous cases of hypoparathyroidism secondary to Riedel's thyroiditis have been recounted concludes the report.- - - - - - - - - - ranking = 0.2keywords = gland (Clic here for more details about this article) |
7/271. 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 = 0.4keywords = gland (Clic here for more details about this article) |
8/271. Large vestibular aqueduct syndrome treated by hyperbaric oxygen.We report the case of a 14-year-old girl with a large vestibular aqueduct (LVA) in whom hyperbaric oxygen (HBO) therapy was effective for the treatment of sensorineural hearing loss. The patient was referred to Nagoya University Hospital for the treatment of hearing loss on 14 September, 1998, because her right hearing level had declined abruptly on 22 August, 1998, and had not changed for 3 weeks since then in spite of steroid and prostaglandin therapy. Her audiogram revealed bilateral profound deafness of more than 110 dB. She had had profound hearing loss on the left side since she was 9 years old. HBO therapy was performed on 22 occasions from 17 September until 19 October, 1998. During the HBO therapy, her right hearing ability returned almost to the level determined prior to the abrupt loss, 60 dB. We therefore recommend HBO therapy for the treatment of sensorineural hearing loss associated with large vestibular aqueduct syndrome if the hearing ability does not recover following conventional treatment.- - - - - - - - - - ranking = 0.2keywords = gland (Clic here for more details about this article) |
9/271. Hereditary hypodontia and onychorrhexis of the fingernails and toenail koilonychia: Witkop's tooth-and nail syndrome.The tooth-and-nail syndrome (Witkop's syndrome) is a rare autosomal dominant ectodermal dysplasia manifest by defects of the nail plates of the fingers and toes and hypodontia with normal hair and sweat gland function. We report a thirteen year-old girl who presented with marked longitudinal ridging of the nail plates of all ten fingers. The toenails were mildly ridged with koilonychia. Her mother's fingers were similarly affected to a lesser degree while her toenails appeared normal. Examination of the child's dentition revealed a hyperplastic frenulum and the absence of one of the usual four mandibular incisors. history provided by the mother described the maternal grandmother and maternal great aunt as having identical nail findings and the presence of only three lower incisors. hair examination was normal in the mother and child, and no history or findings of sweat gland dysfunction was present. This report describes familial hypodontia, fingernail onychorrhexis, and toenail koilonychia consistent with Witkop's syndrome.- - - - - - - - - - ranking = 0.4keywords = gland (Clic here for more details about this article) |
10/271. microsatellite instability and expression of hMLH-1 and hMSH-2 in sebaceous gland carcinomas as markers for muir-torre syndrome.Sebaceous gland carcinomas (SGCs) are rare malignant skin tumors occurring sporadically or as a phenotypic feature of the muir-torre syndrome (MTS). A subset of patients with MTS have a variant of the hereditary nonpolyposis colorectal cancer syndrome caused by mutations in mismatch repair (MMR) genes, which lead to microsatellite instability (MSI). We evaluated the value of MSI and loss of expression of the MMR genes, hMLH-1 and hMSH-2, as a marker to identify and distinguish MTS from sporadic SGC. Using a nationwide pathology report database system, we identified patients with the MTS phenotype. SGCs from 10 MTS patients and the colorectal carcinomas from 3 additional MTS patients were collected. In addition, SGCs from eight patients without a history of visceral neoplasm were collected. MSI was detected in 9 of 13 MTS-associated tumors (69%) versus 0 of 8 sporadic SGCs (P = 0.002). Except for the age of onset of colorectal carcinoma [58 years in the MSI-positive group versus 69.8 years in the MSI-negative group (P = 0.17)], no differences were seen between the MSI-negative and the MSI-positive MTS patients. Loss of expression of hMLH-1 (n = 4) or hMSH-2 (n = 4) was found in MSI-positive patients only. MSI and loss of expression of MMR genes can be used as markers for MTS in patients with SGC. Consequently, MSI and loss of MMR gene expression in a patient presenting with SGC as the initial malignancy have important consequences for the patient and family. There are at least two variants of MTS with different molecular genetic mechanisms because 31% of the patients with the MTS phenotype had no MSI.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
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