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Atypical Cases (atypical + case)

Distribution by Scientific Domains

Medical Sciences	95%

Distribution within Medical Sciences

Pathology	26%
Dermatology	21%
Neurology	8%
8 Other Subdomains	37%

Selected Abstracts

Atypical presentations of pityriasis rosea: case presentations

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 1 2005
A Chuh
ABSTRACT Atypical cases of pityriasis rosea (PR) are fairly common and less readily recognized than typical eruptions. We present four patients for whom we believe atypical PR is the most likely diagnosis. A 33-year-old man had purpuric lesions bilaterally on the legs with classical rash on the trunk. A 28-year-old woman had intensely pruritic and urticarial lesions. A 10-year-old girl had hundreds of small papular lesions 1,3 mm in size. A pregnant woman aged 26 had oral haemorrhagic ulcers with classical PR eruption on her trunk. The oral ulcers erupted and remitted at the same time as the generalized eruption. We reviewed the literature and proposed a classification based on rash morphology, rash size, rash distribution, number of lesions, site of lesions, severity of symptoms and course of the eruption. We believe that it is difficult to make a clear division to define typical and atypical PR, and that it is important not to ascribe any unusual or atypical skin eruption with PR unless other dermatoses have been excluded. [source]

Refractory Progression of Coronary Aneurysms, a Case of Delayed Onset Kawasaki Disease as Depicted by Cardiac Computed Tomography Angiography

CONGENITAL HEART DISEASE, Issue 3 2010
FACP, Shah Azmoon MD
ABSTRACT Background., Kawasaki disease (KD) is an immune-mediated vasculitis of unknown etiology with self-limited clinical course that was first described in 1967 by Dr. Tomisaku Kawasaki. It is a disease of early childhood and rare past late adulthood but one that can have detrimental consequences when there is a delay in diagnosis and treatment. Cardiovascular complications causing increased morbidity and mortality may include coronary artery aneurysms, myocardial infarction, heart failure, arrhythmias, and peripheral artery occlusion. Case Presentation., Here, we present an atypical case of delayed onset KD in a young teenager. DS had visited three different emergency departments during the course of 2 weeks for unrelenting fevers. Despite multiple treatment protocols including immunoglobulin, steroids, and tumor necrosis factor-alpha antagonists, he continued to have progression of cardiovascular complications. While echocardiographic findings were suspicious for cardiac complications, a cardiac computed tomography (CT) angiography was able to clearly distinguish giant coronary aneurysms. Conclusion., Without prompt therapy, fever and manifestations of acute inflammation can last for several weeks to months with increased risk toward complications. The incidence of coronary artery aneurysms has been noted to be 25% in untreated patients with a mortality rate of up to 2%. Using low-dose protocols along with high spatial and temporal resolution of cardiac CT angiography may provide a useful and complimentary imaging modality in accurate diagnosis and follow-up of patients with KD. [source]

Cutaneous leishmaniasis: an atypical case

INTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 1 2005
Canio Martinelli MD
No abstract is available for this article. [source]

Necrobiotic xanthogranuloma with paraproteinemia; an atypical case

JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, Issue 1 2008
Yoshiyuki Ito
Summary Necrobiotic xanthogranuloma (NXG) is a rare marker for paraproteinemia. An 86-year-old woman had a one year history of large red-yellow to brown annular plaques involving all limbs. Biopsies showed a non-palisading granuloma with numerous multinucleated giant cells showing prominent elastophagocytosis and extensive areas of necrobiosis throughout the entire dermis. Complete loss of elastic fibers was observed in the central atrophic area of an annular plaque. Small vascular thromboses were also present. Laboratory findings revealed paraproteinemia of IgG-lambda type. Immunohistochemical staining detected the presence of roughly equal numbers of IgG-lambda-and IgG-kappa-staining plasma cells in the dermis. We diagnosed NXG with paraproteinemia with monoclonal gammopathy (IgG-lambda type) of unknown significance. [source]

Increased asymmetric pulvinar magnetic resonance imaging signals in Creutzfeldt,Jakob disease with florid plaques following a cadaveric dura mater graft

NEUROPATHOLOGY, Issue 1 2006
Yoshinobu Wakisaka
A 9-year-old Japanese girl received a cadaveric dura mater graft during surgery following a head injury with brain contusion. She continued to do well, but when she became 19-years-old, she gradually showed a violent character and was treated in a psychiatric hospital. Another 6 years later, 200 months after the procedure, she developed a progressive gait ataxia, which subsequently led to her death within 10 months of onset. An autopsy showed she had CJD. This patient represents an atypical case of dura-associated CJD (dCJD) with unusual clinicopathological features including the late occurrence of myoclonus, an absence of periodic synchronous discharges in the electroencephalogram, and the presence of widespread florid plaques. However, our detection of an asymmetrical increase in the MRI-derived images of pulvinar nuclei has not been previously observed in other atypical cases of dCJD. Because atypical dCJD cases share several clinicopathological features with those of vCJD, and because asymmetrical hyperintense signals in the pulvinar have been observed in some neuropathologically confirmed vCJD cases, we had some difficulty in a differential diagnosis between atypical dCJD and vCJD. This is the first atypical dCJD case showing a pulvinar high signal compared with all other basal ganglia on MRI. [source]

Mixed epithelial and stromal tumor of the kidney in a 12-year-old girl

PATHOLOGY INTERNATIONAL, Issue 10 2005
Noboru Hara
Mixed epithelial and stromal tumor of the kidney (MESTK) is a rare kidney neoplasm that almost exclusively occurs in perimenopausal women, and long-term estrogen replacement is relevant to its pathogenesis. Herein is described an atypical case of MESTK uncovered in a 12-year-old premenarcheal girl without a history of prior estrogen use. On surgical specimen it was found that the well-circumscribed tumor measuring 14 cm arose from the lower pole of the right kidney, showing solid and fibrous-cystic areas. Microscopically, it was composed both of epithelial structures similar to renal tubules and stroma comprising non-specific spindle cells. Some intratumoral tubules showed affinities to distal-nephron-specific lectins, and those immunoreactive for proximal-tubule-specific CD15 were also present. In addition, primitive ductal structures were reactive both for CD15 and lectins, but immature epithelial elements typical of nephroblastoma were absent. Spindle cells were positive for actin, desmin and vimentin, and expressed progesterone and estrogen receptors. The tumor was comparable with MESTK, although some epithelia were associated with the immunophenotype of proximal tubules. The patient was free of disease postoperatively for 40 months. In the present case, remnants of the primitive periductal mesenchyme might be promoted to neoplastic cells by a sex-steroid surge during puberty. [source]

Transcriptosome and serum cytokine profiling of an atypical case of myelodysplastic syndrome with progression to acute myelogenous leukemia

AMERICAN JOURNAL OF HEMATOLOGY, Issue 10 2006
Daruka Mahadevan
Abstract A Native American-Indian female presenting with anemia and thrombocytosis was diagnosed with myelodysplastic syndrome (MDS, refractory anemia). Over the course of 5 years she developed cytopenias and periods of leukocytosis with normal bone marrow (BM) blast counts, features of an unclassifiable MDS/MPS syndrome. The patient ultimately progressed to acute myelogenous leukemia (AML, FAB M2) and had a normal karyotype throughout her course. The episodes of leukocytosis were associated with infectious complications. Transformation to AML was characterized by a BM blast percentage of 49%. Peripheral blood and BM samples were obtained for serum protein analysis and gene expression profiling (GEP) to elucidate her disease process. An ELISA assay of the serum analyzed ,80 cytokines, which demonstrated that hepatocyte growth factor/scatter factor and insulin-like growth factor binding protein 1 were markedly elevated compared to normal. GEP demonstrated a unique "tumor molecular profile," which included overexpression of oncogenes (HOXA9, N-MYC, KOC1), proliferative genes (PAWR, DLG5, AKR1C3), invasion/metastatic genes (FN1, N-CAM-1, ITGB5), pro-angiogenesis genes (c-Kit), and down regulation of tumor suppressor genes (SUI1, BARD1) and anti-apoptotic genes (PGLYRP, SERPINB2, MPO). Hence, a biomics approach has provided insight into elucidating disease mechanisms, molecular prognostic factors, and discovery of novel targets for therapeutic intervention. Am. J. Hematol., 2006. © 2006 Wiley-Liss, Inc. [source]

Hemodynamic changes with phenotype reversal during pregnancy in twin,twin transfusion syndrome

PRENATAL DIAGNOSIS, Issue 10 2004
G. C. Meyberg-Solomayer
Abstract Objectives We report an atypical case of twin,twin transfusion syndrome (TTTS) in monochorionic-diamniotic twins with arterio-arterial anastomoses in which the former donor became the recipient during pregnancy. Methods Serial sonographic monitoring was performed. Results There was a phenotype reversal in TTTS concerning growth and amniotic fluid ending at 27 weeks, with the dominance of the former smaller donor. Doppler sonography changed from absent enddiastolic flow of the donor to normal values in both twins. The new recipient showed transient ascites, the now smaller actual donor (former recipient) developed progressive cardiomegaly, hypertrophy of the myocardium and mitral and tricuspid insufficiency at 29 weeks. Doppler sonography in the new donor deteriorated to highly pathologic flow in the venous system, leading to cesarean section. The donor fetus died 12 h after delivery because of myocardial decompensation. The recipient did very well and was discharged 8 weeks later from the neonatology unit. Conclusion This atypical course shows the importance of serial sonographic monitoring in pregnancies with TTTS. Copyright © 2004 John Wiley & Sons, Ltd. [source]

,-Methylacyl-CoA racemase (AMACR) in fine-needle aspiration specimens of prostate lesions

DIAGNOSTIC CYTOPATHOLOGY, Issue 11 2009
Gordana Kai, M.D.
Abstract The elevated expression of P504S gene and its product ,-methylacyl-CoA racemase (AMACR) can serve as a molecular marker for prostate cancer. The goal of this study is to investigate P504S/AMACR expression in fine-needle aspiration smears and correlate it with cytological diagnosis. Immunocytochemistry was performed in 35 patients with morphological diagnosis of prostate carcinoma (n = 16), atypia (n = 15), and benign hyperplasia (n = 4). Among 16 malignant cases there were two low-grade, eight intermediate, and six high-grade prostate carcinomas. Cytoplasmic positivity is analyzed qualitatively as predominantly diffuse or focal and quantitatively as <5%, 5,50%, and >50% of cells. Benign cases showed no P504S/AMACR expression. Positive staining was recorded in 75% of malignant cases, but in the majority of them it was weak and focal or diffuse and in a small amount of cells. The most intensive staining was seen in low-grade carcinomas and some atypical cases. This observation indicates a correlation between P504S/AMACR expression and differentiation of cells. P504S/AMACR staining might be of great value in cytodiagnosis of prostate lesions as well as an example of the characterization of cells at the molecular level using fresh tissue obtained by fine-needle aspiration. Diagn. Cytopathol. 2009. © 2009 Wiley-Liss, Inc. [source]

Role of computerized morphometric analysis in diagnosis of effusion specimens

DIAGNOSTIC CYTOPATHOLOGY, Issue 10 2006
B. Arora M.D.
Abstract The present study was undertaken to compare morphometric analysis of cells in 100 effusion samples, with unaided cytological diagnosis. All the cases in the form of Leishman's stained smears were subjected to computerized-interactive morphometry (CIM) by usage of Image analysis software. On routine cytological examination, 44 cases were benign, 26 were malignant, and 30 cases were placed in "atypical" category. On morphometry, values for mean nuclear area (MNA) and mean cytoplasmic area (MCA) in benign cases were found to be 58.39 ± 12.22 ,m2 and 185.70 ± 43.69 ,m2, while for malignant cases were 120.12 ± 16.28 ,m2 and 274.65 ± 61.01 ,m2, respectively (P < 0.001, P < 0.001, highly significant). Significant differences were also noted among benign, atypical, and malignant cases for MNA (P < 0.001). The differences between atypical and malignant cases for N/C (nuclear/cytoplasmic) ratio were also found to be statistically significant (P < 0.001). Finally, 46 cases were found to be benign, 39 malignant, and 15 in the category of atypical cases. CIM helps in better and quicker sorting for malignant cells. MNA and N/C ratio are the most significant parameters in differentiating various cells in effusions. MCA constitutes as another useful parameter. Salient features of CIM, including their applications in the light of current study, are discussed. Diagn. Cytopathol. 2006;34:670,675. © 2006 Wiley-Liss, Inc. [source]

Rapid review of liquid-based smears as a quality control measure

DIAGNOSTIC CYTOPATHOLOGY, Issue 3 2004
Sheryl Henderson M.Med.Sc.(Cytol.)
Abstract The objective of this study was to investigate the effectiveness of a standardized method of rapid review (RR) of monolayer preparations for the identification of abnormalities, the presence of an endocervical component and infectious agents. A total of 200 ThinPrep (Cytyc, Boxborough, MA) slides representing the spectrum of abnormalities commonly encountered in cervical/vaginal cytologic specimens was retrieved from archive. The study set comprised 129 cases within normal limits (WNL); 36 low-grade epithelial abnormalities (LGEA); 28 high-grade epithelial abnormalities (HGEA), including 2 endocervical adenocarcinomas in situ (AIS) and 7 carcinomas. Eighteen false negative (FN) cases were also included for study. Originally missed on initial review, these cases were found to be abnormal on quality control review (17 LGEA; 1 AIS). Commonly encountered infectious agents were represented and included Candida albicans, Trichomonas vaginalis, herpes simplex virus, and Actinomyces. The slides were reviewed using a standardized method of RR (turret technique, for 60 sec) by three experienced screeners masked to the original reference diagnosis. Median sensitivity for LGEA was 70% (range, 67,72%); HGEA, 69% (range, 54,80%); and FN, 65% (range, 56,78%). Specificity remained high, median specificity for LGEA was 95%; HGEA, 97%; and FN, 100%. There was no significant overcalling of any diagnostic category. The chi-square test at P < 0.05 showed no significant difference between RR and full manual rescreen of the ThinPrep smears in this study. While no statistical difference was proven, the sensitivity measurements for all categories of abnormality were moderate due to the high proportion of atypical cases included into the study set. Abnormalities on the monolayer preparations frequently displayed fewer, smaller groups of disaggregated cells with rounded cytoplasmic outlines that were difficult to discern on RR. Interobserver variation was noted. Monolayers with a paucity of diagnostic cells and those displaying subtle nuclear atypia were often overlooked. Diagn. Cytopathol. 2004;31:141,146. © 2004 Wiley-Liss, Inc. [source]

Mild Generalized Epilepsy and Developmental Disorder Associated with Large Inv Dup(15)

EPILEPSIA, Issue 9 2002
Rosanna Chifari
Summary: ,Purpose: Several studies attempted to clarify the genotype,phenotype correlations in patients with inverted duplication of chromosome 15 [inv dup(15)], which is usually characterized by severe mental retardation and epilepsy in individuals with large duplications including the Prader,Willi/Angelman region. We report two patients with inv dup(15) who, in spite of a large duplication, had a mild phenotype including adult-onset epilepsy. This report may help to define the milder spectrum of the syndrome. Methods: A 25-year-old girl with mild mental retardation had a 6-year history of absence seizures, with occasional head drop. Interictal EEG revealed diffuse spike,wave complexes. Epilepsy was well controlled by a combination of lamotrigine (LTG) and valproate (VPA). The other patient, a 27-year-old man with mild mental retardation, had a 5-year history of rare generalized tonic,clonic seizure during sleep, and frequent episodes of unresponsiveness, which appeared to be atypical absence seizures on video-EEG recordings. A combination of VPA and LTG led to a remarkable improvement, although no complete control. Results: Molecular analysis revealed a large inv dup15 in both patients. Conclusions: The discrepancy between the mild phenotype and the severe chromosomal abnormality detected in these two patients further supports the notion that the site of breakpoint might be contributory to the inv dup(15) phenotype. Inv dup(15) should be considered in atypical cases of generalized epilepsy of adult onset without clear-cut etiology. [source]

Equine herpesvirus-1 abortion: atypical cases with lesions largely or wholly restricted to the placenta

EQUINE VETERINARY JOURNAL, Issue 1 2004
K. C. Smith
First page of article [source]

Nonmutilating palmoplantar and periorificial kertoderma: a variant of Olmsted syndrome or a distinct entity?

INTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 6 2010
Ahmad Nofal MD
Background, Olmsted syndrome is a rare keratinization disorder characterized by mutilating palmoplantar and periorificial keratoderma as the two major diagnostic features. Some authors believe that atypical cases without this standard combination may not really belong to Olmsted syndrome. Herein, we describe two familial cases with congenital nonmutilating palmoplantar and periorificial keratoderma, and discuss their similarities and differences with Olmsted syndrome. Patients, The study included two sisters who presented with focal and punctate nonmutilating palmoplantar keratoderma (PPK), periorificial hyperkeratotic plaques, and widely distributed keratotic lesions. Fragile denuded areas of the skin were found in sites exposed to trauma. Fingernails showed a characteristic form of leukonychia. Results, Histopathology of plantar keratoderma showed psoriasiform hyperplasia with marked compact hyperkeratosis, while vicinity of denuded skin revealed thin parakeratotic zone and dissolution of the granular cell layer. Immunohistochemistry demonstrated suprabasal staining pattern for acidic keratin (AE1) and uniform positivity, starting four to six layers above the basal layer, for cytokeratin 10. Electron microscopy showed defective keratinization. Cytogenetic studies revealed normal karyotype and no chromosomal breakage. Conclusion, Our cases share Olmsted syndrome in the early onset, and the presence of symmetrical PPK, periorificial keratoderma and keratotic lesions. However, the striking nonmutilating nature of PPK and the presence of unique features in our patients suggest a newly described keratinization disorder. [source]

Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24 patients

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2005
Alzira A. S. Carvalho
Abstract We examined nerve biopsies from 24 patients with Charcot-Marie-Tooth disease type 1A (CMT1A) and proven 17p11.2-12 duplication. There were seven males and 17 females with a mean age of 27.85 ± 18.95 years at the time of nerve biopsy. A family history consistent with dominant inheritance was present in 17 patients. Clinical features were classical in 16 patients and were atypical in the other eight: one had calf hypertrophy; two had Roussy,Levy syndrome; one had had a subacute inflammatory demyelinating polyneuropathy 11 years earlier and presented a relapse on the form of a chronic inflammatory demyelinating polyneuropathy; one had carpal tunnel syndrome; one had a recent painful neuropathy in both legs; and two had chronic inflammatory demyelinating polyneuropathy. Onion bulb formations (OMFs) were present in every case and most of them were characteristic, whereas burnt-out or cluster-associated OMFs were less common. Depletion of myelinated fibers was severe in 20 cases (169,2927/mm2) and varied from 5187 to 3725/mm2 in three children (4,9 years old). In addition, features of macrophage-associated demyelination were observed in the last four atypical cases. Known for more than 20 years, inflammatory demyelination superimposed in the course of CMT1A has been reported in a few cases in the past few years, mainly concerning asymptomatic or atypical patients. Such an association deserves to be better known because corticotherapy improves weakness in most of these patients. [source]

The Use of 17-Hydroxyprogesterone in the Diagnosis of Canine Hyperadrenocorticism

JOURNAL OF VETERINARY INTERNAL MEDICINE, Issue 4 2002
J.M.E. Ristic
A number of dogs are seen with clinical signs consistent with hyperadrenocorticism (HAC), supporting CBC and biochemical findings, but the disease cannot be confirmed with either the ACTH stimulation test or the low-dose dexamethasone suppression test (LDDST). Therefore, another screening test is required to aid diagnosis in these atypical cases of HAC. The aim of this study was to investigate whether measuring 17-hydroxyprogesterone (OHP) concentrations could be used in this role. Plasma cortisol and OHP concentrations were measured in dogs with clinical signs suggestive of HAC before and after administration of exogenous ACTH. In dogs with HAC, plasma OHP showed an exaggerated response to ACTH stimulation. This was seen in both typical cases of HAC with a positive cortisol response to ACTH administration and in atypical cases with negative screening test results. The test can be performed on plasma already taken for a conventional ACTH stimulation test. Post-ACTH OHP concentrations decreased after treatment with mitotane or adrenalectomy. These results suggest that OHP measurements can be used as an aid to diagnose and manage canine HAC. [source]

Hepatic graft-versus-host disease resembling acute hepatitis: additional treatment with ursodeoxycholic acid

LIVER INTERNATIONAL, Issue 6 2002
Tetsuhiro Chiba
Abstract: Hepatic graft-versus-host disease (GVHD) is a frequent complication after bone-marrow transplantation (BMT). The disease is often refractory to immunosuppressive therapy. We present a 30-year-old Japanese male, who developed an abrupt elevation of aminotransferases, on day 135 after allogeneic BMT. A liver biopsy specimen revealed degeneration of the small bile ducts and portal fibrosis, and the diagnosis of chronic hepatic GVHD was confirmed. No manifestation of chronic GVHD was observed except liver dysfunction. The administration of prednisolone (PSL) and cyclosporin (CsA) ameliorated laboratory data to a degree, but they did not return to normal. Treatment with ursodeoxycholic acid (UDCA), subsequently added to the immunosuppressive therapy, apparently normalized the levels of biliary tract enzyme and total bilirubin. His liver function test completely returned to normal on day 260. We believe that it is worthwhile to administer UDCA as an additional treatment for not only common hepatic GVHD but also atypical cases presenting as acute hepatitis. [source]

Increased asymmetric pulvinar magnetic resonance imaging signals in Creutzfeldt,Jakob disease with florid plaques following a cadaveric dura mater graft

CD19 negative precursor B acute lymphoblastic leukemia presenting with hypercalcemia

PEDIATRIC BLOOD & CANCER, Issue 1 2004
Iyad Sultan MD
Abstract A 9-month-old infant presented with hypercalcemia and lytic bone lesions. Suspicion for malignancy led to a bone marrow examination, which showed replacement of the marrow by a small round blue cell infiltrate. Flow cytometric analysis of these cells showed an unusual immunophenotype in that these cells were dim CD45, HLA-DR, and CD10 positive, but CD19, CD20, CD79a, and CD34 negative. Southern blotting showed clonal rearrangement of immunoglobulin heavy chain (IgH) which confirmed a diagnosis of precursor B acute lymphoblastic leukemia (ALL). He received supportive treatment with hydration and pamidronate, but had recurrent episodes of hypercalcemia. Once the correct diagnosis of ALL was established, the patient was treated with an infantile ALL chemotherapeutic regimen and the hypercalcemia resolved. This case highlights the usefulness of immunoglobulin gene rearrangement studies in atypical cases of ALL. © 2004 Wiley-Liss, Inc. [source]

Posterior reversible encephalopathy syndrome: a report of a case with atypical features

ANAESTHESIA, Issue 11 2008
J. N. Pratap
Summary We report a case of a young woman presenting with profound depression of consciousness and intra-uterine death in the late stages of an unbooked pregnancy. She proceeded to develop features of cardiovascular, renal, hepatic and haematological failures. The patient was challenging to manage in view of uncertainty regarding the underlying cause, and required multidisciplinary consultation. A diagnosis was subsequently made of posterior reversible encephalopathy syndrome in the context of pre-eclampsia. We review the typical presentation and wide-ranging associations of this recently described clinico-neuroradiological syndrome, and look at how appropriate management may lead to rapid resolution of its often life-threatening features. We highlight the importance to anaesthetists and critical care physicians of recognising even atypical cases such as this one in view of key differences in management from similarly presenting conditions. [source]

Dermoscopic findings of haemosiderotic and aneurysmal dermatofibroma: report of six patients

BRITISH JOURNAL OF DERMATOLOGY, Issue 2 2006
P. Zaballos
Summary Background, The clinical diagnosis of dermatofibroma is commonly easy. However, the differentiation of dermatofibroma from other cutaneous tumours is difficult in some instances, primarily in atypical cases and rare variants. Haemosiderotic dermatofibroma is a variant composed of numerous small vessels, extravasated erythrocytes and intra- and extracellular haemosiderin deposits. Aneurysmal dermatofibroma is a variant composed of large, blood-filled spaces without endothelial lining. Some authors consider that haemosiderotic dermatofibroma is an early stage in the development of aneurysmal dermatofibroma. The clinical differential diagnosis of haemosiderotic or aneurysmal dermatofibroma must include melanoma and other melanocytic tumours, vascular neoplasms, adnexal tumours and nonspecific cysts. Dermoscopy improves the diagnostic accuracy in pigmented and nonpigmented skin lesions. Objectives, To evaluate specific dermoscopic criteria. Methods, Dermoscopic examination (using the DermLite Foto; 3Gen, LLC, Dana Point, CA, U.S.A.) of six patients with haemosiderotic or aneurysmal dermatofibromas was performed to evaluate specific dermoscopic criteria. Results, A multicomponent pattern with a central bluish or reddish homogeneous area in combination with white structures and a peripheral delicate pigment network along with vascular structures was noted in five of six lesions. Conclusions, This dermoscopic pattern yielded the diagnosis of haemosiderotic or aneurysmal dermatofibroma in most cases. However, this multicomponent pattern may present in some melanomas and although it is useful in determining a clinical diagnosis of aneurysmal dermatofibroma, it may not be specific to this entity. [source]

Use of magnetic enrichment for detection of carcinoma cells in fluid specimens

CANCER, Issue 1 2002
Eric Kielhorn B.S.
BACKGROUND Ascites fluid or a pleural effusion are common events in metastatic carcinoma, but they also can be associated with several other medical conditions. The standard for determination of malignancy in these situations is cytologic evaluation of these fluids. Although this method is frequently successful, there are times when it fails, even when the patient has a malignancy, either because of insufficient cells in the fluid or for other reasons. This study addresses this problem taking advantage of the recent advances in technology for detection of rare epithelial cells in liquid specimens. METHODS The authors examined fluid specimens from 59 patients to determine the frequency of recovery of epithelial cells compared with that achieved by conventional cytopathology. The Dynal CELLection Epithelial Enrich (Dynal AS, Oslo, Norway) method was used. This method is based on immunomagnetic selection of cells binding to EpCAM antibodies. Carcinoma cells were confirmed by morphology and, when there was sufficient material, by E-cadherin staining. RESULTS Grouping the cases by cytologic diagnosis, the authors found malignant cells using the cell enrichment assay in 11 of 12 malignant cases, 2 of 5 atypical cases, and 3 of 42 negative cases. Further investigations were conducted on the five cases that were cytologically negative or atypical but yielded epithelial cells after immunomagnetic enrichment. Four cases ultimately were proven malignant by other methods and one had incomplete follow-up. CONCLUSIONS The new methods available for epithelial cell enrichment in liquids may be used successfully on cytologic fluid specimens and may lead to increased sensitivity for detection of malignancy, and consequently more accurate staging. Cancer 2002;94:205,11. © 2002 American Cancer Society. [source]

Diagnosis of ophthalmic tumours

ACTA OPHTHALMOLOGICA, Issue 2009
T KIVELÄ
Purpose To summarise clinical methods used to diagnose ophthalmic tumours. Methods Personal experience of the author as a member of the European Ophthalmic Oncology Group. Results Conjunctival tumours are excised based on provisional clinical diagnosis or, if they are extensive, atypical or part of systemic disease such as lymphoma, first biopsied to obtain a histopathologic diagnosis. Useful methods to diagnose and stage conjunctival tumours are high frequency ultrasonography (US) or ultrasound biomicroscopy (UBM) to measure their thickness, in vivo confocal microscopy or impression cytology to chart their extent, and exfoliative cytology to get a provisional diagnosis. Ciliary body tumours are visualised by radical biomicroscopy, transillumination and indirect ophthalmoscopy with scleral indentation, supplemented with high frequency US or UBM. Binocular indirect ophthalmoscopy and US form the basis or diagnosing choroidal tumours. In addition to fluorescein and indocyanine green angiography in atypical cases, optical coherence tomography to detect subretinal fluid and autofluorescence to detect orange pigment are useful adjuncts in telling a small melanoma from a naevus. The mnemonic "To Find Small Ocular Melanomas" (from Thickness >2mm, subretinal Fluid, Symptoms, Orange pigment, Margin touching disc) is also useful in this respect. Clinical diagnosis of medium-sized to large melanomas is 99% accurate, whereas a fine needle or vitrectomy biopsy may be necessary to diagnose atypical tumours and is also used for cytogenetic analysis of uveal melanomas. Conclusion Conjunctival tumours are mostly diagnosed histopathologically, whereas diagnosis of uveal tumours is usually based on clinical examination. While clinical diagnosis is usually reliable, biopsy of uveal tumours is increasingly used for prognostic purposes. [source]

Classification of the spectrum of Coats' disease as subtypes of idiopathic retinal telangiectasis with exudation

ACTA OPHTHALMOLOGICA, Issue 6 2001
M. Cahill
ABSTRACT. Purpose: An increasing variety of eponymous terms have been used to describe atypical cases of Coats' disease. A group of typical cases of Coats' disease and other cases of differing severity were classified as one of four subtypes of idiopathic retinal telangiectasis with exudation and compared with regard to clinical outcome. Methods: In a retrospective clinical review patients with typical and atypical Coats' disease were classified as severe, focal, juxtafoveal or associated (with another disease) forms of idiopathic retinal telangiectasis with exudation. Results: 53 eyes in 50 patients were examined of which 62% (n=31) were male. 12 eyes were classified as severe (group 1), 22 focal (group 2), 12 juxtafoveal (group 3) and 7 associated (group 4). The mean age at diagnosis was lowest in group 1 eyes (6.8 years). The best visual acuity at presentation was 6/60 in group 1 whereas high proportions of eyes in the other groups had initial visual acuities of 6/24 or better. In group 1 only one eye was treated, the majority of eyes were blind or had been enucleated whereas 34 (79%) of eyes in the other groups were suitable for treatment and 29 eyes (67%) retained pre-treatment visual acuity or better at last follow-up. Conclusions: Idiopathic retinal telangiectasis with exudation is a spectrum of disease, which is synonymous with Coats' disease. In this retrospective study eyes with severe idiopathic retinal telangiectasis with exudation corresponding to typical Coats' disease, have poorer vision at presentation, are less suitable for treatment and have worse outcomes than eyes with other subtypes. The spectrum of disease severity seen in idiopathic retinal telangiectasis with exudation may be due to second somatic mutations in genes with an existing germline mutation (the two hit theory) and a mosaic phenotype. [source]