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Biomedical subjects

K Peris

Publications and source records attributed to K Peris.

At least 19 recordsLinked to original sources
PubMed1999

Face-to-face diagnosis vs telediagnosis of pigmented skin tumors: a teledermoscopic study.

BACKGROUND: Teledermoscopy uses telecommunication technologies to transfer images of pigmented skin lesions, including clinical and anamnestic data, via e-mail to specialized centers for teleconsultation. DESIGN: Sixty-six pigmented skin lesions examined on a face-to-face basis in a skin lesion clinic in L'Aquila, Italy, were sent via e-mail on a standard-resolution color monitor for consultation at a university dermatology department in Graz, Austria. INTERVENTION: Digital photographs of the clinical and dermoscopic images of all pigmented tumors were taken with a stereomicroscope connected to a high-resolution video camera in Truevision advanced graphic array (Targa) format file and converted successively into a Joint Photographic Expert Group (PEG) format file. All lesions were excised surgically and diagnosed histopathologically. MAIN OUTCOME MEASURE: Diagnostic concordance between face-to-face diagnosis and telediagnosis. RESULTS: The diagnostic concordance was 60 (91%) of 66 cases. The number of correct telediagnoses was lower, but the difference was not statistically significant (Wilcoxon test, P = .10). The accuracy of the telediagnoses was not related to the quality of the images, but highly depended on the level of diagnostic difficulty of a given pigmented skin tumor (Spearman correlation, P= .01). CONCLUSION: Teleconsultation of clinical and dermoscopic images of skin tumors via e-mail provides a similar degree of diagnostic accuracy as face-to-face diagnosis.

Adolescent↗
PubMed1999

Reduced expression of CDKN2a/P16INK4a in mycosis fungoides.

Alterations in the CDKN2a gene have been demonstrated in a wide range of human tumors including hematopoietic malignancies. To verify whether altered CDKN2a expression is involved in the pathogenesis of mycosis fungoides (MF), we examined mRNA expression in 20 patients with MF by RT-PCR and dot blot hybridization. CDKN2a mRNA expression was undetectable in 5 of the 20 patients (25%), intermediate in 13 (65%) and high in 2 (10%). Immunohistochemical studies, which were performed in ten patients, revealed that in the four patients showing no mRNA, p16INK4a was expressed in <1% of neoplastic lymphocytes whereas in the four patients with an intermediate mRNA level, specific nuclear staining was present in 1-25% of tumor cells. In the two patients with high levels of CDKN2a mRNA, >25% of neoplastic lymphocytes stained positively. No direct correlation between clinicopathological and molecular findings was evident in our patients. DNA mutational analysis revealed no alterations in a total of six patients examined. Our results indicate that the lack of CDKN2a expression, as found in 25% of the patients, may have a pathogenetic role in MF even though the absence of CDKN2a mRNA was not associated with point mutations or minor gene deletions.

Adolescent↗
PubMed1999

The use of chemical peelings in the treatment of different cutaneous hyperpigmentations.

BACKGROUND: Several chemical agents including hydroquinone, retinoic acid, and azelaic acid are currently used in the treatment of cutaneous hyperpigmentations. Recently chemical peelings with kojic acid, glycolic acid, and trichloroacetic acid, either alone or in combination, have been introduced for treatment of hyperpigmentations. OBJECTIVE: The purpose of our study was to evaluate the efficacy of trichloroacetic acid as well as glycolic acid associated with kojic acid in the treatment of cutaneous hyperpigmentations. METHODS: Twenty patients with diffuse melasma were treated with a solution composed of 50% glycolic acid and 10% kojic acid whereas 20 patients with localized hyperpigmentations (lentigo) were treated with 15%-25% trichloroacetic acid. RESULTS: Complete regression of diffuse melasma was observed in 6 of 20 patients (30%), a partial regression in 12 of 20 patients (60%), and no regression in 2 of 20 patients (10%) treated with 50% glycolic acid and 10% kojic acid. Complete regression of localized hyperpigmentations was observed in 8 of 20 patients (40%), a partial regression in 10 of 20 patients (50%), and no regression in 2 of 20 patients (10%) treated with 15-25% trichloroacetic acid. CONCLUSIONS: Based on our findings, both peelings can be considered effective in the treatment of cutaneous hyperpigmentations.

Adult↗
PubMed1999

Cutaneous involvement in lymphoblastic lymphoma.

Lymphoblastic leukemia/lymphoma (LBL) is a malignant neoplasm of precursor lymphocytes of B- or T-cell phenotype. Involvement of the skin is relatively uncommon. We examined retrospectively the clinicopathologic, immunophenotypic, and molecular genetic features of six patients with cutaneous involvement of LBL (B-LBL=5; T-LBL=1). Patients presented clinically with solitary, large tumors located on the head (3 cases) or the back (1 case), or with generalized tumors (2 cases). Ulceration was uncommon. In two patients the onset of skin lesions was concomitant to the diagnosis of lymphoblastic leukemia. Histopathologic examination showed in all cases a dense, diffuse, monomorphous infiltrate located in the entire dennis and subcutaneous fat. A typical "starry sky" pattern was observed in the majority of the lesions. In some areas neoplastic cells were aligned in a "mosaic-like" fashion. Cytomorphologically, medium sized lymphoid cells with round or convoluted nuclei, inconspicuous nucleoli and scant cytoplasm predominated. There were no significant differences in the histopathologic features of skin lesions in T- and B-LBL. In B-LBL, CD79a was more useful than CD20 in determining the phenotype of neoplastic cells (4/5 cases positive for CD79a as compared to 2/5 cases positive for CD20). TdT, CD10 and CD43 were positive in 4 cases, CD34 in 2. The case of T-LBL revealed positivity for CD1a, CD3, CD43 and TdT, and negativity for CD34 and for B-cell markers. All neoplasms were positive for CD99 and bcl-2, and showed a high proliferation rate. Molecular genetic analysis of J(H) and T-cell receptor (TCR) genes performed using a polymerase chain reaction technique revealed a monoclonal rearrangement of J(H) genes in all five B-LBLs. One of these cases showed also a concomitant TCR-gamma gene rearrangement. A monoclonal rearrangement of the TCR-gamma gene was detected in the case of T-LBL. Our study shows that skin lesions of LBL present characteristic clinicopathologic and molecular features allowing the differentiation from other cutaneous lymphomas, even in cases without clinical history of previous precursor lymphoblastic leukemia/lymphoma.

Adult↗
PubMed1998

Peripheral nervous system involvement in a patient with large T-cell lymphoma arising from a pre-existing mycosis fungoides.

A 29-year-old man was examined for disseminated erythematous scaling patches and plaques and reddish, partially ulcerated nodules. Histological examination showed a dense, diffuse, epidermotropic infiltrate located in the entire dermis to the subcutaneous tissue, composed mainly of large pleomorphic T lymphocytes. Immunohistochemistry revealed positivity of neoplastic cells for T-cell-associated markers, negativity for CD30 antigen and for B-cell markers. Polymerase chain reaction analysis detected a clonal amplification of T-cell receptor gamma. Based on clinicopathological and molecular findings, the diagnosis of large T-cell lymphoma (LCL) arising from a pre-existing mycosis fungoides was made. Seven months after primary diagnosis, meningeal and peripheral nervous system involvement developed with no other evidence of systemic disease. Despite chemotherapy and radiation therapy, the patient died 3 months after the diagnosis of nervous system involvement. In patients with cutaneous LCL, mild neurological symptoms may precede the complete diagnostic picture by some weeks. A rapid and fatal progression characterizes the clinical course of the disease.

Adult↗
PubMed1998

CDKN2a/p16INK4a mutations and lack of p19ARF involvement in familial melanoma kindreds.

Germline mutations in the cyclin-dependent kinase inhibitor 2a (CDKN2a) gene, which maps to the 9p21 chromosomal region and encodes the cyclin-dependent kinase inhibitor p16INK4a, have been detected in a proportion of familial melanoma kindreds, suggesting that it is the putative 9p21-linked melanoma susceptibility gene. The p19ARF transcript, an alternative spliced form of the CDKN2a gene, has recently been shown to inhibit, like the p16INK4a protein, cell cycle progression, raising the possibility that it might constitute an additional melanoma tumor suppressor gene at the 9p21 locus. To determine the contribution of these candidate genes to familial melanoma genetic predisposition, we screened 10 such kindreds for germline mutations in the p16INK4a and p19ARF genes. Four independent germline missense mutations, mapping in exon 1alpha (Gly23Asp; Arg24Pro) and exon 2 (Asn71Ileu; Pro114Leu) of the CDKN2a gene, were identified. Two previously described polymorphisms were also detected, Ala148Thr in exon 2 and a base change in the 3' untranslated region of exon 3. No disease-associated mutations in exon 1beta of the p19ARF gene were found. Our data support the hypothesis that the CDKN2a is a melanoma susceptibility gene in familial melanoma, whereas the p19ARF gene does not seem to play a significant role.

Adult↗
PubMed1997

Analysis of microsatellite instability and loss of heterozygosity in keratoacanthoma.

We analyzed microsatellite instability (MSI) and loss of heterozygosity (LOH) at 17 microsatellite markers located on chromosomes 2p, 3p, 5q, 6q, 9p, 9q, 17p and 18q in 19 randomly selected keratoacantomas (KAS), in one cutaneous lesion that histologically could not unequivocally be differentiated from squamous cell carcinoma, and in one patient with multiple KAs of longstanding duration. The goals of our study were to determine whether, in a similar manner to some visceral carcinomas, genomic instability could be detected in KAs and to clarify whether molecular analysis might be useful to further characterize KA. MSI was observed in 2 of 21 cases (9.5%) at 5 of 17 loci examined. In one patient with a solitary KA, the presence of MSI and a family history of visceral malignant tumours suggested that the patient might have belonged to a family with Muir-Torre syndrome. In one other MSI+ KA, a definite differential diagnosis in relation to squamous cell carcinoma could not be established. In addition, one sample displayed LOH at 2 of 17 loci analysed whereas in the patient with multiple KAs, LOH at one locus was the only alteration found. In conclusion, the low frequency of MSI and LOH detected in our study suggests that these genetic events are uncommon in KA unless it is associated with a familial disease (e.g. Muir-Torre syndrome) or it has more aggressive histological features.

Aged↗
PubMed1997

Indeterminate cell histiocytosis: a rare histiocytic disorder.

A 64-year-old woman, otherwise healthy, presented with multiple reddish-brown, slightly yellowish papules on the face and neck, which had developed 3 years earlier. The lesions were painless and nonpruritic and varied in diameter from 1 to 5 mm. Histological and immunohistochemical examination of cutaneous biopsies revealed a diffuse dermal infiltrate composed mainly of histiocytes which expressed both Langerhans cell as well as monocytic/macrophages cell marker characteristics. Electron microscopic studies revealed no Birbeck granules within the cytoplasm of the neoplastic cells, leading to a diagnosis of indeterminate cell histiocytosis. Indeterminate cell histiocytosis is a very rare disease characterized by the proliferation of indeterminate histiocytes which morphologically and immunophenotypically resemble Langerhans cells but lack Birbeck granules.

Female↗
PubMed1997

Cutaneous epithelioid cell histiocytoma: immunohistochemical and ultrastructural findings suggesting endothelial origin.

A 13-year-old boy presented with a polypoid nodule localized in the groin. Although the clinical and histopathological features corresponded to previously described diagnostic criteria of epithelioid cell histiocytoma, immunohistochemical and ultrastructural findings suggested vascular differentiation of the epithelioid cells. In particular, the immunohistochemical negativity of the epithelioid cell elements for Factor XIIIa failed to substantiate the previously forwarded hypothesis that this lesion represents a dendrocytoma. Instead, the presence of histiocytoid, vacuolated cells occasionally containing sparse red blood cells, positive staining for Factor VIII-related antigen, and ultrastructural evidence of endothelial characteristics in epithelioid neoplastic cells favor the hypothesis that "epithelioid cell histiocytoma" is of endothelial origin. We suggest the descriptive term cutaneous histiocytoid hemangioendothelioma for this lesion.

Adolescent↗
PubMed1997

Widespread microsatellite instability in sebaceous tumours of patients with the Muir-Torre syndrome.

Muir-Torre syndrome (MTS) is an autosomal dominant disorder characterized by the presence of at least one sebaceous gland tumour and a minimum of one visceral malignant tumour. Recently, microsatellite instability (MSI) has been detected in the tumours of patients with MTS and germline mutations of the hMSH2 and hMLH1 mismatch repair genes have been detected in some patients with this syndrome. To determine if the tumours of patients with MTS have widespread genomic instability and whether loss of heterozygosity (LOH) in the chromosomal regions containing hMSH2 and hMLH1 is detectable, MSI and LOH were examined at 10 dinucleotide repeats on chromosomes 2p, 3p, 5q, 9p, 17p and 18q. Data were obtained from six sebaceous gland tumours and two adenocarcinomas of the colon from three patients of two Muir-Torre families. MSI was detected at more than half of the loci tested in all sebaceous tumours examined. In addition, there was LOH at D2S119 in one sebaceoma and one sebaceous carcinoma from one patient. The colon carcinomas from two patients showed MSI at five of the 10 loci analysed. These results show that widespread MSI is a feature of tumours in patients with MTS. In addition, the finding of LOH at D2S119, a marker located in the vicinity of hMSH2, in sebaceous tumours of one patient indicates that this gene may have a pathogenetic role in this patient.

Adult↗
PubMed1996

Pilomatrix carcinoma with multiple visceral metastases. Report of a case.

BACKGROUND: The malignant variant of pilomatrixoma is pilomatrix carcinoma, a low-grade, malignant lesion with a tendency to recur. Only three cases with visceral metastases, occurring some years after primary diagnosis, have been reported. METHODS: A case of metastatic pilomatrix carcinoma of the neck in a patient, age 50 years, is presented. RESULTS: Histologic examination of the cutaneous lesion showed a dense infiltrate of basaloid cells, an abrupt transition to shadow cells, and central necrosis. Two months after primary diagnosis, pulmonary and brain metastases developed. Despite chemotherapy and irradiation, the patient died a widespread disease 18 months after the primary diagnosis. An autopsy confirmed the diagnosis of pilomatrix carcinoma with metastases to several organs including the heart, lung, brain, liver, pancreas, kidney, adrenal gland, gastric and colorectal submucosa, skin, and bone. CONCLUSIONS: Pilomatrix carcinoma is very rare and usually behaves like a low-grade, malignant lesion with a tendency to recur. This patient's tumor is unique because of its highly aggressive behavior and visceral metastases.

Hair Diseases↗
PubMed1996

The role of MT2 and anti-bcl-2 protein antibodies in the differentiation of benign from malignant cutaneous infiltrates of B-lymphocytes with germinal center formation.

MT2/CD45RA and anti-bcl-2 protein (Bcl-2) monoclonal antibodies are useful markers in distinguishing follicular lymphomas from reactive follicular hyperplasia of the lymph nodes. We examined biopsy specimens from 11 patients with primary cutaneous B-cell follicle center lymphomas, 10 patients with cutaneous pseudolymphomas with germinal centers, and 6 patients with inflammatory infiltrates with germinal centers in non-lymphoid cutaneous tumors (3 basal cell carcinomas, 2 malignant melanomas, and 1 solar keratosis), in order to evaluate the utility of MT2 and anti-Bcl-2 antibodies in differentiating benign from malignant germinal center cell proliferations in the skin. Immunohistochemical evaluation of MT2 and Bcl-2 was focused exclusively on the reactivity of germinal center cells. Specific membranous MT2 positivity was found in 2/11 cutaneous follicle center lymphomas; a diffuse, non-specific staining pattern was identified in 3/11 follicle center lymphomas and in 1/6 inflammatory infiltrates in non-lymphoid tumors. A negative MT2 reaction was observed in 6/11 follicle center cell lymphomas, in all cases of pseudolymphomas and in 5/6 inflammatory infiltrates in non-lymphoid tumors. Bcl-2 positivity was detected only in 1/11 follicle center lymphomas. Germinal center cells in all other cases were Bcl-2 negative. Our results suggest that MT2 and anti-Bcl-2 antibodies are only of limited value in differentiating primary cutaneous follicle center lymphomas from cutaneous pseudolymphomas with germinal centers.

Antibodies, Monoclonal↗