1/175. 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) |
2/175. 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) |
3/175. Sporadic Bazex-Dupre-Christol-like syndrome: early onset basal cell carcinoma, hypohidrosis, hypotrichosis, and prominent milia.BACKGROUND: We present the case of a 32-year-old woman with a large recurrent multifocal basal cell carcinoma on the scalp. Conspicuous accompanying symptoms were multiple periorbital milia, hypotrichosis of the body and the scalp, and hypohidrosis. The sparse hair of the scalp showed further abnormalities such as pili torti, as well as flattened, irregularly curly hairs. OBJECTIVE: In 1964, Bazex et al. described a syndrome characterized by congenital hypotrichosis, follicular atrophoderma, and basocellular neoplasms that included basal cell nevi and early onset basal cell carcinomas. The Bazex-Dupre-Christol syndrome is a rare X-linked dominant disease. A sporadic occurrence with the typical constellation of these symptoms has not yet been reported. The lack of a positive family history and no signs of follicular atrophoderma argues for a sporadic occurrence of a Bazex-Dupre-Christol-like syndrome. The case reported shares several features with the classic Bazex-Dupre-Christol syndrome. CONCLUSION: Our report documents the necessity to look for early development of basal cell carcinomas in patients who show signs of the epidermal malformations described.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
4/175. Sebaceous neoplasms in muir-torre syndrome.A 59-year-old Japanese woman presented with two sebaceous neoplasms on the chest wall and on the left cheek. The patient had a history of ascending colon cancer, and her mother had died of gastric cancer. The histopathologic features of both sebaceous neoplasms were vaguely in accordance with those of sebaceous adenoma and sebaceoma. Based on these findings, we diagnosed the patient as having muir-torre syndrome. The sebaceous neoplasm on the chest wall exhibited features of a sebaceous adenoma with a unique cystic appearance, namely cystic sebaceous adenoma, which has been reported as a specific marker for muir-torre syndrome (MTS). However, histopathologically, both the sebaceous adenoma and sebaceoma had relatively large, vesicular or heterochromous and crowded nuclei with some pleomorphism and distinct nucleoli associated with some mitotic figures, casting doubt on their benignancy. We show that some or most benign sebaceous neoplasms in MTS might have a high potential for malignant transformation or may be well-differentiated sebaceous carcinomas with low-grade malignancy, mimicking sebaceous adenoma/sebaceoma. This results in difficulties in classification regarding sebaceous neoplasms in MTS.- - - - - - - - - - ranking = 9keywords = neoplasm (Clic here for more details about this article) |
5/175. 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 = neoplasm (Clic here for more details about this article) |
6/175. focal nodular hyperplasia of the liver associated with portal vein agenesis: a morphological and immunohistochemical study of one case and review of the literature.Congenital absence of portal vein (CAPV) is a rare malformation. To our knowledge, sixteen cases are reported in western literature. All the cases are associated with other diseases, cardiac malformations (12/17 patients; 16 plus the present case) and hepatic neoplasms being the most frequent observations. We present the case of a girl with a complex malformative syndrome consisting of multicystic kidney dysplasia, CAPV and nodular tumor-like mass of the liver. angiography showed that the splenic vein and superior mesenteric vein joined to form a common trunk directly entering the inferior vena cava above the liver. A review of the CAPV cases of the literature and the clinical and pathological features of the hepatic lesion, classified as focal nodular hyperplasia (FNH), are extensively discussed.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
7/175. Pediatric skin tumors.This article summarizes several malignant childhood neoplasms and benign tumors that can mimic malignancies. Because malignant skin tumors are rare in children, parents and physicians often are not sufficiently suspicious to ensure that an early diagnosis can be made. Many malignant skin tumors have features that suggest a vascular or hemangioma-like lesion. Because hemangiomas occur in 10% of infants, it is often considered prudent to adopt a wait-and-see attitude; however, if the lesion is too firm to be a hemangioma or its growth pattern does not follow that of a typical hemangioma, additional options should be considered. To manage childhood skin malignancies, one needs expert consultation, early biopsy, and correct histopathologic interpretation.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
8/175. Brooke-Spiegler syndrome: treatment of cylindromas with CO2 laser.Brooke-Spiegler syndrome is an autosomal dominant inherited disease characterized by the development of multiple trichoepitheliomas and cylindromas. We report two patients with Brooke-Spiegler syndrome whose scalp cylindromas were treated with a high-energy continous wave CO2 laser after debulking with bipolar scissors in one of the patients. The special feature in our report is the coexistence of three adnexal skin neoplasms in one case, and the close association of cylindroma and eccrine spiradenoma in the same lesion. We also support that debulking with bipolar scissors prior to laser therapy can be a technique of great benefit in large tumors.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
9/175. Malignant cylindroma in Brooke-Spiegler syndrome.A 68-year-old female patient presented with a history of gradual appearance of multiple nodules situated predominantly on the scalp and neck, with a few nodules on the trunk. The nodules began to appear at the age of 30. family history revealed that the patient's brother, son, father and grandmother had similar cutaneous lesions. The dominant histopathological pattern was that of a cylindroma. Features of both cylindroma and spiradenoma (spiradenocylindroma) were present within the same lesion in some biopsies. Most lesions on the scalp were skin-colored with a smooth surface. The largest tumors located on the neck were tender and ulcerated. Histopathologically, these tumors had the morphology of a high-grade malignant solid neoplasm with epithelioid features.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
10/175. Weaver syndrome with neuroblastoma and cardiovascular anomalies.We report on an infant with Weaver syndrome, neoplasia and cardiovascular anomalies. Stage 4S neuroblastoma underwent spontaneous resolution. Three neoplasms have been reported in Weaver syndrome: another stage 4S neuroblastoma [Muhonen and Menezes, 1990: J Pediatr 116:596-599], an ovarian endodermal sinus tumor [Derry et al., 1999: J Med Genet 36:725-728], and a sacrococcygeal teratoma [Kelly et al., 2000: Am J Med Genet 95:492-495]. No case was associated with cardiovascular anomalies. Our patient had VSD and PDA, and although several other patients with Weaver syndrome have had cardiovascular anomalies, they were shown not to have neoplasia.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
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