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Rare Subtype (rare + subtype)
Selected AbstractsHigh-dose immunoglobulines and extracorporeal photochemotherapy in the treatment of febrile ulceronecrotic Mucha-Habermann diseaseDERMATOLOGIC THERAPY, Issue 4 2010Federica Marenco ABSTRACT Febrile ulcero-necrotic Mucha-Habermann disease (FUMHD) is a rare subtype of pityriasis lichenoides et varioliformis acuta (only 41 cases described to date), characterized by an acute onset of ulcero-necrotic papules accompanied by high fever and severe constitutional symptoms. We report a case of a 23-year-old man with a steroid-resistant FUMHD treated by intravenous immunoglobulins (IVIG) combined with methotrexate. Only one case of FUMHD treated by IVIG has been reported to date in literature. Also in our case, IVIG proved to be effective in inducing a dramatic improvement of ulceration and in arresting the appearance of new lesions. Moreover, in our experience we decided to perform a maintenance treatment with extracorporeal photochemotherapy (ECP), to the best of our knowledge not previously used in the treatment of pityriasis lichenoides et varioliformis acuta. ECP, which involves extracorporeal exposure of peripheral blood mononuclear cells to photo-activated 8-methoxypsoralen, induces an immunological reaction against auto-reactive T cell clones, without immune-depression and thus could potentially be useful particularly in FUMHD avoiding the risk of an infective reactivation. [source] UNUSUAL GASTROINTESTINAL METASTASES FROM AN ALVEOLAR SOFT PART SARCOMADIGESTIVE ENDOSCOPY, Issue 2 2010Gyeong-Won Lee Alveolar soft part sarcoma (ASPS) is a rare subtype of soft tissue sarcoma that occurs predominantly in young patients. Despite its relatively indolent course, it generally has a poor prognosis with widespread metastases. The common metastatic sites from an ASPS include the lung, brain and bone. However, metastasis of an ASPS to the gastrointestinal tract is extremely rare. Here, we report a rare case of upper gastrointestinal bleeding and jejunal intussusception due to gastrointestinal metastases from an ASPS. [source] Over-expression of CCL3,,MIP-1, in a blastoid mantle cell lymphoma with hypercalcemiaEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 5 2010Norimichi Hattori Abstract We analyzed a case with the blastoid variant of mantle cell lymphoma (MCL-BV), a rare subtype of B-cell lymphoma, presenting with marked hypercalcemia at diagnosis. Enzyme-linked immunosorbent assay (ELISA) showed elevated serum levels of interleukin-6 (IL-6), tumor necrosis factor-, (TNF-,), macrophage inflammatory protein-1, (MIP-1,), and type I collagen telopeptide, but not parathyroid hormone, calcitriol or parathyroid hormone-related peptide at diagnosis, suggesting local osteoclastic hypercalcemia in this case. By reverse transcription polymerase chain reaction (RT-PCR) analysis, we found predominant expression of mRNA for MIP-1, in addition to those for receptor-activator of nuclear-factor kappa B ligand (RANKL), TNF-,, and IL-6 in lymphoma cells obtained from the patient. Furthermore, recombinant MIP-1, significantly stimulated 3H-thymidine uptake by isolated MCL cells in vitro. Treatment with intravenous fluids, bisphosphonate, and methylprednisolone followed by combination chemotherapy promptly corrects the hypercalcemia and successfully induced complete remission, which was accompanied by a decrease of these cytokines in the serum, including MIP-1,. In the present case, MIP-1,, an osteoclast-activating factor produced by mantle lymphoma cells, may contribute to the development of hypercalcemia. It likely acts through RANKL expression in tumor cells and/or stroma cells, as indicated in multiple myeloma (MM) and adult T-cell leukemia/lymphoma (ATLL). Furthermore, MIP-1, is also involved in the development of an aggressive phenotype on MCL by stimulating proliferation of these lymphoma cells. In summary, the present study demonstrated that MIP-1, is an important factor in the development of both hypercalcemia and an aggressive phenotype in some types of B-cell lymphoma. [source] Pretibial epidermolysis bullosa: is this case a new subtype with loss of types IV and VII collagen?INTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 8 2009Hong-sun Lee MD Pretibial epidermolysis bullosa (PEB) is an extremely rare subtype of dominant dystrophic epidermolysis bullosa (DDEB), in which recurrent blistering with scarring predominantly involves the pretibial skin. Nail dystrophy, albopapuloid lesions, and hypertrophic scars may also occur. In PEB, immunohistochemical and electron microscopic studies demonstrate the complete or partial loss of the anchoring fibril (AF) in the basement membrane zone, suggesting disturbed synthesis or excessive degradation of collagen VII, the main component of AF. Interestingly, we report a case of PEB with unusual results of joint loss of types IV and VII collagen. [source] Basal cell carcinoma with matrical differentiation in a transplant patient: A case report and review of the literatureJOURNAL OF CUTANEOUS PATHOLOGY, Issue 6 2005Faizi Ali Background:, Shadow cells, characterized by basaloid squamous cells with a distinct well-defined border and a central unstained area as a shadow of lost nuclei, are characteristic of pilomatricoma, a distinct neoplasm of hair matrix differentiation. The presence of shadow cells within tumor islands composed of follicular germinative cells of an otherwise classic basal cell carcinoma (BCC) has been considered as a distinct diagnostic category of BCC with matrical differentiation. We present a case of BCC with matrical differentiation in a transplant patient. To our knowledge, only 10 cases [Aloi et al. Am J Dermatopathol 1988; 10: 509; Ambrojo et al. Am J Dermatopathol 1992; 14: 293; Sagol et al. East J Med 1999; 4: 37; Kwittken J. Cutis 2002; 69: 57; Kim et al. Yonsei Med J 2003; 44: 523] of BCC showing matrical differentiation have been reported. None have been reported arising on the background of immunosuppression. Methods:, A 58-year-old male cardiac transplant patient with a nodule on the dorsum of left hand was studied. It arose and enlarged rapidly within a few months, causing irritation and bleeding. The nodule was surgically excised and submitted for histopathologic evaluation. The sections were prepared by hematoxylin and eosin (H&E) method. Results:, The H&E-stained sections of the hand lesion revealed multiple nodular masses of basaloid follicular germinative cells. In some areas, there was peripheral palisading and stromal retraction artifact typical of classic BCC. In these areas, the tumor nodules were connected to the epidermis, whereas in others, it extended deep into the reticular dermis to the subcutaneous fat junction. Elsewhere, the majority of the tumor contained a population of shadow cells, similar to those in pilomatricoma, with basaloid-appearing matrical cells in the periphery. Trichohyaline granules were identified in the cytoplasm of many of the peripheral basaloid cells. These granules are one of the characteristic features of follicular matrix differentiation. Mitoses were rare. Areas of cystic degeneration were present throughout the tumor. There was no evidence of an infiltrating growth pattern, lymphovascular invasion, or sarcomatoid growth pattern. Conclusion:, BCC with matrical differentiation is a distinct pathologic entity and a rare subtype of BCC featuring shadow and matrical cells, typically seen in pilomatricoma, a benign hair matrix neoplasm. This tumor has not yet been reported in an immunosuppressed transplant patient. [source] The outcome of IgD myeloma after autologous hematopoietic stem cell transplantation is similar to other Ig subtypes,AMERICAN JOURNAL OF HEMATOLOGY, Issue 7 2010Manish Sharma IgD myeloma is a rare subtype of myeloma that is associated with an aggressive course, resistance to chemotherapy, and a poor outcome. We identified 17 patients with IgD myeloma, who received a hematopoietic stem cell transplantation (HCT) at our institution between August 1988 and June 2008. Fifteen of these 17 patients underwent an autologous (auto) HCT. Complete responses (CRs) were seen in 6 of 15 (40%) patients; three converted from partial response to CR, two from minimal response to CR, and one from very good partial response to CR. The overall response rate after auto HCT was 86% (13 of 15). Kaplan-Meiers estimates of 3-year progression-free survival (PFS) and overall survival (OS) were 38% and 64%, respectively. Median PFS and OS were 18 and 45 months, respectively. These results were comparable with patients receiving autologous HCT for other Ig subtypes of myeloma. Am. J. Hematol. 2010. © 2010 Wiley-Liss, Inc. [source] Crystallization and preliminary X-ray analysis of mycophenolic acid-resistant and mycophenolic acid-sensitive forms of IMP dehydrogenase from the human fungal pathogen CryptococcusACTA CRYSTALLOGRAPHICA SECTION F (ELECTRONIC), Issue 9 2010Carl A. Morrow Fungal human pathogens such as Cryptococcus neoformans are becoming an increasingly prevalent cause of human morbidity and mortality owing to the increasing numbers of susceptible individuals. The few antimycotics available to combat these pathogens usually target fungal-specific cell-wall or membrane-related components; however, the number of these targets is limited. In the search for new targets and lead compounds, C. neoformans has been found to be susceptible to mycophenolic acid through its target inosine monophosphate dehydrogenase (IMPDH); in contrast, a rare subtype of the related C. gattii is naturally resistant. Here, the expression, purification, crystallization and preliminary crystallographic analysis of IMPDH complexed with IMP and NAD+ is reported for both of these Cryptococcus species. The crystals of IMPDH from both sources had the symmetry of the tetragonal space group I422 and diffracted to a resolution of 2.5,Å for C. neoformans and 2.6,Å for C. gattii. [source] Global epidemiology of HIV,JOURNAL OF MEDICAL VIROLOGY, Issue S1 2006Francine E. McCutchan Abstract HIV is among the most generically variable of human pathogens. A comprehensive and detailed description of HIV strains in the pandemic is an important foundation for diagnosis, treatment, and prevention. The current sequence database for HIV includes almost 800 complete genome sequences, documenting HIV-1 groups M, O, and N, and HIV-2. Among HIV-1 group M strains, responsible for the vast majority of HIV infections worldwide, 743 sequences represent 9 genetic subtypes, 16 circulating recombinant forms (CRF) that are spreading in populations, and a variety of unique recombinant forms (URF), identified so far only from a single individual. The global distribution of HIV is complex and dynamic with regional epidemics harboring only a subset of the global diversity. HIV strains differ enormously in terms of global prevalence. Six strains account for the majority of HIV infections: HIV-1 subtypes A, B, C, D, and two of the CRF, CRF01-AE and CRF02_AG, respectively. Many of the known subtypes and recombinant forms are currently rare in the epidemic, but could spread more widely if favorable conditions arise. HIV-2 is largely restricted to West Africa at relatively low prevalence there. Groups O and N of HIV-1 are very rare in the pandemic. The goal of universal coverage of HIV-1 strains by diagnostic tests can be met by minimizing false negative test rates for the six globally prevalent HIV-1 group M strains and HIV-2, and by evaluating systematically coverage of rare subtypes and recombinant forms. J. Med. Virol. 78:S7,S12, 2006. © 2006 Wiley-Liss, Inc. [source] Tracheolaryngeal Complications of Inherited Epidermolysis Bullosa: Cumulative Experience of the National Epidermolysis Bullosa Registry,THE LARYNGOSCOPE, Issue 9 2007Jo-David Fine MD Abstract Objectives/Hypothesis: To accurately determine the frequency with which complications arise in the ears, noses, and throats of patients with inherited epidermolysis bullosa (EB) as well as the cumulative risk of tracheolaryngeal stenosis or stricture. Study Design: Cross-sectional study (3,280 patients) with a nested, randomly sampled longitudinal subcohort (n = 450), representing data collection, stratified by major EB subtype, of the National EB Registry, an epidemiologic project focused on enrolling all EB patients within the continental United States from 1986 to 2002, to permit generalization of findings to the entire American EB population. Methods: Systematic epidemiologic case finding and data collection were performed throughout the continental United States, followed by subclassification of patients by EB subtype. ENT complications were quantified via contingency tables (as frequencies) and lifetable analyses. Frequencies of surgical procedures were also determined. Results: The most important clinical ENT complication in inherited EB was tracheolaryngeal stenosis or stricture, arising during early childhood and primarily within infants and children with junctional EB (JEB) (cumulative risk of 39.8% and 12.8% in Herlitz and non-Herlitz JEB, respectively, by ages 6 and 9). Other uncommon complications included chronic otitis media, chronic otitis externa, and hearing loss. Conclusions: Given the potential risk for sudden airway occlusion and death, meticulous surveillance by a pediatric otolaryngologist is a critical part of the overall management of infants and children with EB, especially those with JEB and two rare subtypes of generalized EB simplex. Elective tracheostomy should be considered in EB infants and children with evidence of airway embarrassment. [source] Histopathologic grading of medulloblastomasCANCER, Issue 2 2002A Pediatric Oncology Group Study Abstract BACKGROUND Medulloblastomas are small cell embryonal tumors of the cerebellum found predominantly in children, only slightly more than half of whom survive. Predicting favorable outcome has been difficult, and improved stratification clearly is required to avoid both undertreatment and overtreatment. Patients currently are staged clinically, but no pathologic staging system is in use. Two rare subtypes at extreme ends of the histologic spectrum, i.e., medulloblastomas with extensive nodularity and large cell/anaplastic medulloblastomas, are associated with better and worse clinical outcomes, respectively. However, there is little data about correlations between histologic features and clinical outcome for most patients with medulloblastomas that fall between these histologic extremes of nodularity and anaplasia. Therefore, the authors evaluated the clinical effects of increasing anaplasia and nodularity in a large group of children with medulloblastomas, hypothesizing that increasing nodularity would predict better clinical outcomes and that increasing anaplasia would presage less favorable results. METHODS Medulloblastomas from 330 Pediatric Oncology Group patients were evaluated histologically with respect to extent of nodularity, presence of desmoplasia, grade of anaplasia, and extent of anaplasia. Pathologic and clinical data were then compared using Kaplan,Meier and log-rank analyses. RESULTS Increasing grade of anaplasia and extent of anaplasia were associated strongly with progressively worse clinical outcomes (P < 0.0001 for both). Significant anaplasia (moderate or severe) was identified in 24% of medulloblastoma specimens. Neither increasing degrees of nodularity nor desmoplasia were associated significantly with longer survival. CONCLUSIONS Moderate anaplasia and severe anaplasia were associated with aggressive clinical behavior in patients with medulloblastomas and were detected in a significant number of specimens (24%). Pathologic grading of medulloblastomas with respect to anaplasia may be of clinical utility. Cancer 2002;94:552,60. © 2002 American Cancer Society. [source] | ||||||||||||||||||||||