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Epidermal Cysts (epidermal + cyst)
Selected AbstractsAnalysis of somatic APC mutations in rare extracolonic tumors of patients with familial adenomatous polyposis coliGENES, CHROMOSOMES AND CANCER, Issue 2 2004Hendrik Bläker Patients with familial adenomatous polyposis coli (FAP) carry heterozygous mutations of the APC gene. At a young age, these patients develop multiple colorectal adenomas that consistently display a second somatic mutation in the remaining APC wild-type allele. Inactivation of APC leads to impaired degradation of ,-catenin, thereby promoting continuous cell-cycle progression. The role of APC inactivation in rare extracolonic tumors of FAP patients has not been characterized sufficiently. Among tissue specimen from 174 patients with known APC germ-line mutations, we identified 8 tumors infrequently seen in FAP. To investigate the pathogenic role of APC pathway deregulation in these lesions, they were analyzed for second-hit somatic mutations in the mutational cluster region of the APC gene. Immunohistochemistry was performed to compare the expression pattern of ,-catenin to the mutational status of the APC gene. Exon 3 of the ,-catenin gene (CTNNB1) was analyzed for activating mutations to investigate alternative mechanisms of elevated ,-catenin concentration. Although CTNNB1 mutations were not observed, second somatic APC mutations were found in 4 of the 8 tumors: a uterine adenocarcinoma, a hepatocellular adenoma, an adrenocortical adenoma, and an epidermal cyst. These tumors showed an elevated concentration of ,-catenin. No APC mutations were seen in focal nodular hyperplasia of the liver, angiofibrolipoma, and seborrheic wart. This is the first study reporting second somatic APC mutations in FAP-associated uterine adenocarcinoma and epidermal cysts. Furthermore, our data strengthen a role for impaired APC function in the pathogenesis of adrenal and hepatic neoplasms in FAP patients. © 2004 Wiley-Liss, Inc. [source] Molluscum contagiosum infestation in an epidermal cyst: still infectious?JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 1 2010H-H Chiu No abstract is available for this article. [source] Nodular hidradenoma masquerading an epidermal cystJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 7 2008T Sakuma [source] Subcutaneous dirofilariasis caused by Dirofilaria immitis mimicking a large epidermal cystJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 4 2006S-L Huang [source] Fine-needle aspiration cytology and immunocytochemistry of orbital massesDIAGNOSTIC CYTOPATHOLOGY, Issue 1 2006Edneia Tani M.D., Ph.D. Abstract A series of 85 fine-needle aspiration (FNA) biopsies from orbital space occupying lesions of 82 patients are reviewed. A total of 32 benign lesions and 49 malignant lesions were conclusively diagnosed. In two cases the aspirates were insufficient for diagnosis. Of two cases, which were cytologically suspicious for lymphoma, a repeat FNA resulted in a conclusive diagnosis of lymphoma in one case, while the second case proved to be a pseudotumor on an open biopsy material. Of the 32 benign lesions seven were fibrosis, six pseudotumors, four epidermal cysts, four meningiomas, and three pleomorphic adenomas. The remaining cases included two hematomas, one granuloma, three inflammations, and one malformation. In 43 of 49 malignant tumors cytomorphology was corroborated with immunocytochemistry. Thirty five of these were low- or high-grade lymphomas, nine metastases, two sarcomas, two plasmacytomas, and one chloroma. All lymphomas were of B phenotype with monoclonal light chain expression. The rate of cell proliferation as measured by Ki-67 immunostaining varied between 4,25% and 30,80% for low- and high-grade lymphomas, respectively. These results confirm previous reports on the usefulness of FNA biopsy in diagnosing orbital masses and emphasize the value of immunocytochemistry in tumor characterization. Diagn. Cytopathol. 2006; 34:1,5. © 2005 Wiley-Liss, Inc. [source] Analysis of somatic APC mutations in rare extracolonic tumors of patients with familial adenomatous polyposis coliGENES, CHROMOSOMES AND CANCER, Issue 2 2004Hendrik Bläker Patients with familial adenomatous polyposis coli (FAP) carry heterozygous mutations of the APC gene. At a young age, these patients develop multiple colorectal adenomas that consistently display a second somatic mutation in the remaining APC wild-type allele. Inactivation of APC leads to impaired degradation of ,-catenin, thereby promoting continuous cell-cycle progression. The role of APC inactivation in rare extracolonic tumors of FAP patients has not been characterized sufficiently. Among tissue specimen from 174 patients with known APC germ-line mutations, we identified 8 tumors infrequently seen in FAP. To investigate the pathogenic role of APC pathway deregulation in these lesions, they were analyzed for second-hit somatic mutations in the mutational cluster region of the APC gene. Immunohistochemistry was performed to compare the expression pattern of ,-catenin to the mutational status of the APC gene. Exon 3 of the ,-catenin gene (CTNNB1) was analyzed for activating mutations to investigate alternative mechanisms of elevated ,-catenin concentration. Although CTNNB1 mutations were not observed, second somatic APC mutations were found in 4 of the 8 tumors: a uterine adenocarcinoma, a hepatocellular adenoma, an adrenocortical adenoma, and an epidermal cyst. These tumors showed an elevated concentration of ,-catenin. No APC mutations were seen in focal nodular hyperplasia of the liver, angiofibrolipoma, and seborrheic wart. This is the first study reporting second somatic APC mutations in FAP-associated uterine adenocarcinoma and epidermal cysts. Furthermore, our data strengthen a role for impaired APC function in the pathogenesis of adrenal and hepatic neoplasms in FAP patients. © 2004 Wiley-Liss, Inc. [source] Relationship between sonographic and pathologic findings in epidermal inclusion cystsJOURNAL OF CLINICAL ULTRASOUND, Issue 7 2001Hak Soo Lee MD Abstract Purpose We evaluated the sonographic findings in epidermal inclusion cysts and related them to the pathologic findings. Methods We retrospectively reviewed the sonograms and pathology specimens of 24 patients with pathologically proven epidermal inclusion cysts. We evaluated the lesions for shape, size, internal echogenicity, posterior sound enhancement, and presence of color Doppler signals. We classified the masses into 5 sonographic types according to their internal echogenicity. The relationship between the sonographic types and the pathologic findings was examined. Results The masses were ovoid or spherical in 17 cases (71%), lobulated in 5 (21%), and tubular in 2 (8%). The longest diameter ranged from 1 to 6 cm (mean, 3.1 cm). Twenty-three cases (96%) were associated with posterior sound enhancement. Color Doppler signals were absent in 20 cases, but some vascularity was noted in 4 ruptured epidermal cysts, in areas of granulation tissue. The most common sonographic type was a hypoechoic lesion with scattered echogenic reflectors (10 cases). Sonographic findings were related to the lamellation of keratin debris and the granulation tissue secondary to rupture. Most cases with a lobulated configuration (4 of 5) or color Doppler signals (4 of 4) were ruptured cysts. Conclusions Epidermal inclusion cysts most often appeared sonographically as a hypoechoic mass containing variable echogenic foci without color Doppler signals. Ruptured epidermal cysts, however, may have lobulated contours and show color Doppler signals, mimicking a solid mass. © 2001 John Wiley & Sons, Inc. J Clin Ultrasound 29:374,383, 2001 [source] The concomitant occurrence of multiple epidermal cysts, osteomas and thyroid gland nodules is not diagnostic for Gardner syndrome in the absence of intestinal polyposis: a clinical and genetic reportBRITISH JOURNAL OF DERMATOLOGY, Issue 4 2003S.-M. Herrmann Summary Gardner syndrome, a phenotypic variant of familial adenomatous polyposis, is characterized by the classical clinical triad of skin and soft tissue tumours, osteomas and intestinal polyposis, but disease patterns with pairs of these findings have also been reported. Different mutations in the adenomatous polyposis coli (APC) gene have been shown to be associated with Gardner syndrome disease phenotypes. A 36-year-old patient presented with multiple epidermal cysts on the face, left ear lobe and neck, and the possible diagnosis of Gardner syndrome was based on the additional findings of two classical osteomas in the left radius and ulna and a cold non-malignant nodule of the thyroid gland. Intestinal polyposis was lacking at the time of examination. Major deletions but not microdeletions were excluded by a cytogenetic analysis with 650 chromosomal bands per haploid set. Systematic sequencing of the entire coding region of the APC gene (> 8500 bp) of the patient and five healthy controls was also performed. As a results, new APC gene polymorphisms were identified in exons 13 [A545A (A/G)] and 15 [G1678G (A/G), S1756S (G/T), P1960P (A/G)]. We also detected D1822V (A/T) which has recently been reported to be potentially related to colorectal carcinoma, and genotyped 194 randomly chosen healthy individuals from the Glasgow area for this as well as for the above variants in exons 13 and 15. Interestingly, of the 194 controls, 112 carried the DD (57·7%), 71 the DV (36·6%), and the remaining 11 (5·7%), including our patient, the VV genotype. It is therefore unlikely that APC D1822V serves as an important marker for colorectal carcinoma. In conclusion, we failed to identify obvious germline candidate mutations in >,8500 bp of the coding region of the APC gene in a patient with multiple epidermal cysts, osteomas and a thyroid gland nodule; major chromosomal deletions were excluded. Therefore, we assume that only the presence of intestinal polyposis is a marker for Gardner syndrome. [source] | ||||||||||