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Diagnostic Challenge (diagnostic + challenge)
Kinds of Diagnostic Challenge Selected AbstractsCow's milk allergy: A Diagnostic ChallengePEDIATRIC ALLERGY AND IMMUNOLOGY, Issue 3 2008Anders O. J. Van Thuijl No abstract is available for this article. [source] Stevens,Johnson Syndrome: A Diagnostic Challenge in the Absence of Skin LesionsPEDIATRIC DERMATOLOGY, Issue 1 2003Inge Vanfleteren M.D. Stevens,Johnson syndrome in children is most frequently caused by a Mycoplasma pneumoniae infection. The full clinical picture of Stevens,Johnson syndrome can be present before seroconversion of Mycoplasma antibodies is observed. One should keep in mind that one negative titer of Mycoplasma antibodies does not rule out M. pneumoniae infection. [source] Suicidal Behavior in Children Younger than Twelve: A Diagnostic Challenge for Emergency Department PersonnelACADEMIC EMERGENCY MEDICINE, Issue 9 2007Carl L. Tishler PhD Suicide is one of the leading causes of death in children younger than 12 years and is the fourth leading cause of death in 12 year olds. Increasing numbers of young children now present to the emergency department (ED) with mental health issues, and ED personnel must determine the most appropriate disposition options for these children, sometimes without the assistance of specialty mental health services. Much of the present body of literature describing suicidality fails to separate children from adolescents for analysis and discussion. This article reviews relevant literature pertaining to suicidal thoughts and behaviors in young children and discusses problems with available data, as well as epidemiology, risk factors, typical motivations, methods, assessment, and disposition for these patients. Suicidal children younger than 12 years are often clinically different from suicidal adolescents and adults and may require unique assessment and disposition strategies in the ED. A child who has ideation without a clear plan, or has made an attempt of low lethality, can sometimes be discharged home, provided that a supportive, responsible caregiver is willing to monitor the child and take him or her to outpatient mental health appointments. If the home environment is detrimental, or the child has used a method of high potential lethality, inpatient treatment is the most appropriate course of action. Mental health specialty services, when available, should be used to help determine the most appropriate disposition. [source] Melanoma with cartilaginous differentiation: Diagnostic challenge on fine-needle aspiration with emphasis on differential diagnosisDIAGNOSTIC CYTOPATHOLOGY, Issue 1 2009Krisztina Z. Hanley M.D. Abstract Fine-needle aspiration (FNA) is a minimally invasive, fast, and accurate diagnostic method for the evaluation of patients with locally recurrent or distant metastases of malignant melanoma. In the vast majority of cases, the diagnosis is straightforward with the characteristic cytologic features well documented in the literature. Divergent differentiation (chondroid, neural, myofibroblastic, and osteocartilagenous) in a melanoma is rare and can potentially create diagnostic challenges if the evaluator is unaware of the same. We report a case of a 46-year-old female with a history of primary anal melanoma who presented with a groin mass. The FNA of the groin mass showed a neoplasm rich in chondroid matrix and raised the possibility of a second primary mesenchymal neoplasm rather than metastasis from the patient's known primary anal melanoma. A review of the histologic features of the anal melanoma showed divergent chondroid differentiation in the anal melanoma with the metastatic deposit in the groin exhibiting extensive chondroid differentiation. The differential diagnostic considerations are discussed. Diagn. Cytopathol. 2009. © 2008 Wiley-Liss, Inc. [source] Diagnostic challenge from Page 37AUSTRALIAN VETERINARY JOURNAL, Issue 1-2 2005Article first published online: 10 MAR 200 No abstract is available for this article. [source] Flow cytometric evaluation of CD38 expression assists in distinguishing follicular hyperplasia from follicular lymphoma,CYTOMETRY, Issue 5 2009Kristin Mantei Abstract The distinction of follicular lymphoma (FL) from reactive follicular hyperplasia (FH) can be a diagnostic challenge in flow cytometry. In this study, the median fluorescent intensity (MFI) of CD38 as assessed by flow cytometry on B and T cell subpopulations in 102 lymph nodes specimens with histopathologically confirmed FL was compared with 55 cases of FH. The MFI of CD38 was highly significantly reduced in the neoplastic B cells in FL when compared with the reactive germinal center B cells in FH (P < 1.0E-16). The MFI of CD38 did not differ between the non-neoplastic B-cells in FL and nongerminal center B-cells in FH (P = 0.14) or between T-cells and non-neoplastic B-cells in FL (P = 0.63). A marginal increase in the MFI of CD38 was seen for T cells in FL compared with FH (P = 0.04). An increased difference in the MFI of CD38 was identified for T-cells compared with nongerminal center B-cells in FH (P = 0.005). No difference in CD38 expression was seen between Grades 1, 2, or 3 FL. The study also confirmed increased expression of CD10 (P < 1.0E-9), decreased CD19 (P < 1.0E-22), and CD20 (P < 1.0E-16) in FL in comparison with FH, as has been previously reported. This study identified decreased CD38 as a common finding in FL in comparison with FH and provides an additional tool to help differentiate FL from FH by flow cytometry. © 2009 Clinical Cytometry Society [source] Diagnostic utility of mammaglobin and GCDFP-15 in the identification of metastatic breast carcinoma in fluid specimensDIAGNOSTIC CYTOPATHOLOGY, Issue 7 2009Z. Yan M.D. Abstract Morphologic differentiation of breast carcinoma from nonmammary malignancies in fluid specimens can be a diagnostic challenge. Immunocytochemistry is often employed in the differential diagnosis. In this study, we evaluated the expression of mammoglobin (MGB1) in body-cavity fluid specimens and compared its efficacy as a marker for metastatic breast carcinomas with that of gross cystic disease fluid protein-15 (GCDFP-15). Cell blocks from 40 fluid specimens were immunostained with monoclonal antibodies against MGB1 and GCDFP-15. They included 15 breast carcinomas and 25 nonmammary carcinomas (10 lungs, 10 ovaries, 3 gastrointestinal tracts, 1 kidney, and 1 urinary bladder). Positivity was defined as the presence of cytoplasmic staining in 10% or more carcinoma cells. Thirteen (87%) and seven (47%) breast carcinomas showed positive staining with MGB1 and GCDFP-15, respectively. Three (12%) nonmammary carcinomas (2 ovarian and 1 colonic) showed positive MGB1 staining; one (3%) nonmammary carcinoma demonstrated positive GCDFP-15 staining. The differences of MGB1 and GCDFP-15 staining between breast and nonmammary carcinomas were statistically significant (P < 0.05). Both MGB1 and GCDFP-15 are specific markers for metastatic breast carcinomas in cell block fluid specimens (88 vs. 96%). However, MGB1 is more sensitive than GCDFP-15 as a marker for metastatic breast carcinoma (87 vs. 46%). Diagn. Cytopathol. 2009. © 2009 Wiley-Liss, Inc. [source] Intrapancreatic schwannoma diagnosed by endoscopic ultrasound-guided fine-needle aspiration cytologyDIAGNOSTIC CYTOPATHOLOGY, Issue 2 2009Shaoying Li M.D. Abstract Schwannoma is a tumor of neuro-ectodermal origin, usually occuring in the head and neck and extremities. A retroperitoneal, and particularly intra-pancreatic presentation is very rare, and poses a clinical and diagnostic challenge. We report a case of a male patient who underwent an Endoscopic Ultrasound-guided Fine Needle Aspiration (EUS-FNA) biopsy of a hypoechoic, intra-pancreatic mass. The onsite cytological evaluation was consistent with a spindle cell neoplasm. Further evaluation, aided by immunohistochemical stains, defined the mass as a Schwannoma. The patient then underwent a pancreaticoduodenectomy and the histopathological diagnosis of the surgical specimen confirmed the cytological diagnosis. To our knowledge, this is the first report of intra-pancreatic Schwannoma diagnosed preoperatively by EUS-FNA cytology. Diagn. Cytopathol. 2009. © 2008 Wiley-Liss, Inc. [source] Cytopathologic differential diagnosis of malignant mesothelioma, adenocarcinoma and reactive mesothelial cells: A logistic regression analysis,DIAGNOSTIC CYTOPATHOLOGY, Issue 1 2009Ebru Cakir M.D. Abstract Distinguishing malignant mesothelioma, adenocarcinoma and reactive mesothelial proliferation in both cytologic and surgical pathologic specimens is often a diagnostic challenge. Conventional cytomorphologic assessment is an important step in the differential diagnosis of these entities. The pleural effusion cytologies from 40 cases of malignant mesothelioma, 40 cases of adenocarcinoma and 30 cases of reactive mesothelial proliferation diagnosed between 1997 and 2007 were reviewed. Twenty-seven cytologic features which are regarded as useful in the differential diagnosis of mesothelioma, adenocarcinoma and benign mesothelial proliferation were assessed. These cytologic features were subjected to a stepwise logistic regression analysis. Three features were selected to distinguish malignant mesothelioma from adenocarcinoma: giant atypical mesothelial cell (P = 0.0001), nuclear pleomorphism (P = 0.0001) and acinar structures (P = 0.0001), the latter two being characteristics of adenocarcinoma. The variables selected to differentiate malignant mesothelioma from reactive mesothelial cells were: cell ball formation (P = 0.0001), cell in cell engulfment (P = 0.0001) and monolayer cell groups (P = 0.0001), the latter being a feature of benign mesothelial proliferation. When these selected variables were subjected to a stepwise logistic regression analysis, the logistic model correctly predicted 90% of cases of benign mesothelial proliferation versus 97.5% of malignant mesothelioma and 92.5% of malignant mesothelioma versus 92.5% of adenocarcinoma. Conventional cytomorphologic assessment is the first step to establish an accurate diagnosis in pleural effusions. Several cytologic features have predictive value to seperate malignant mesothelioma from adenocarcinoma and reactive mesothelial proliferation. Diagn. Cytopathol. 2009. © 2008 Wiley-Liss, Inc. [source] Fine-needle aspiration biopsy of metastatic malignant melanoma resembling a malignant peripheral nerve sheath tumorDIAGNOSTIC CYTOPATHOLOGY, Issue 10 2008Svetoslav Bardarov M.D. Abstract We report a case of metastatic malignant melanoma resembling a malignant peripheral sheath tumor, which posed a significant diagnostic challenge. The patient is a 76-year-old male, who presented in the emergency room with bilateral chest pain exacerbated by inspiration. The pain was present for 3 week and was not exacerbated by physical exercise. The diagnostic workup revealed bilateral parenchymal pulmonary infiltrates. The CT-scan guided fine-needle aspiration and the core biopsies of the largest pulmonary lesion revealed high-grade spindle cell neoplasm with individual cell apoptosis and necrosis. The immunohistochemical profile on the cell block showed that the cells are positive for Vimentin. The S-100 stain showed only focal positivity. The immunohistochemical stains for HMB45, Melan A, pancytokeratin, and smooth muscle actin were negative. Five years ago the patient was diagnosed with melanoma on the back with Clark level of IV. The melanoma was excised with clear margins and sentinel lymph nodes were negative. Careful examination of patient's previous slides revealed an area of spindle cell melanoma adjacent to a nodular type melanoma. Based on the patient's previous history, current clinico-pathologic presentation and immunohistochemical profile, the diagnosis of metastatic malignant melanoma resembling peripheral nerve sheath tumor was favored over the diagnosis of metastatic malignant spindle cell neoplasm of unknown primary site, which by itself is very rare clinical scenario. Diagn. Cytopathol. 2008;36:754,757. © 2008 Wiley-Liss, Inc. [source] Cytomorphology of lymphoepithelioma-like carcinoma of the urinary bladder: Report of two casesDIAGNOSTIC CYTOPATHOLOGY, Issue 8 2008Guoping Cai M.D. Abstract Lymphoepithelioma-like carcinoma (LELC) of the urinary bladder is a rare variant of high-grade urothelial carcinoma. Here, we report urine cytologic findings in two cases of this rare entity, the diagnosis of which was confirmed by histopathological examination of the resected tumors. The cytomorphologic features included large tumor cells with high nuclear to cytoplasmic ratios, vesicular chromatin, and prominent nucleoli, presented as single cells or intermixed with inflammatory cells. The differential diagnosis included otherwise typical high-grade urothelial carcinoma, reactive urothelial cells and rarely large cell lymphoma. The rarity of the tumor cells may impose a diagnostic challenge in urine specimen. Diagn. Cytopathol. 2008; 36: 600,603. © 2008 Wiley-Liss, Inc. [source] Fine-needle aspiration cytology of pseudoangiomatous stromal hyperplasia of the breastDIAGNOSTIC CYTOPATHOLOGY, Issue 5 2004Philip C.W. Lui M.B.B.S. Abstract Pseudoangiomatous stromal hyperplasia (PASH) is an uncommon lesion usually found in premenopausal women. Histologically, it is characterized by complex, anatomosing, empty slit-like spaces in a dense collagenous stroma. These pseudoangiomatous spaces are lined by monomorphic spindle cells of myofibroblastic differentiation. Cytological features of PASH are rarely discussed and reported, and may pose diagnostic challenge to surgical pathologists. Two cases of PASH are reported with emphasis on the FNAC features and cytologic differentiation from other benign fibroepithelial lesions. Diagn. Cytopathol. 2004;30:353,355. © 2004 Wiley-Liss, Inc. [source] Leiomyosarcoma of the breast: A difficult diagnosis on fine-needle aspiration biopsyDIAGNOSTIC CYTOPATHOLOGY, Issue 3 2003Xiao Jun Wei M.D. Abstract Leiomyosarcoma of the breast is rarely encountered in fine-needle aspiration (FNA) cytologic material. We report a case of primary leiomyosarcoma of the breast in a 52-yr-old female. Aspiration cytology showed large, dissociated round to spindle cells with abundant vacuolated cytoplasm, pleomorphic nuclei, prominent nucleoli, and occasional intranuclear cytoplasmic invaginations. Mitotic figures, osteoclast-like giant cells, and stromal fragments were identified. A diagnosis of malignant neoplasm representing either a sarcoma, a poorly differentiated carcinoma, or a metaplastic carcinoma was made. The patient underwent a wide excision of the lesion after negative work-up. Histologic examination and immunohistochemical studies established the diagnosis of leiomyosarcoma. This case is presented here because we feel that, although FNA cytology with eventual ancillary studies is a valuable diagnostic tool to evaluate any breast mass, malignant spindle cell neoplasms of the breast still represent a diagnostic challenge for the cytopathologist. Recognition of all cytologic features of leiomyosarcoma may help to formulate a correct diagnosis. Diagn. Cytopathol. 2003;29:172,178. © 2003 Wiley-Liss, Inc. [source] Comparison of antibodies to HBME-1 and calretinin for the detection of mesothelial cells in effusion cytology ,DIAGNOSTIC CYTOPATHOLOGY, Issue 3 2001Patricia A. Fetsch M.T. (A.S.C.P.) Abstract The distinction of mesothelial cells in cytologic samples is often a diagnostic challenge. This is particularly true in potentially malignant effusions in which reactive mesothelial cells may simulate adenocarcinoma (ACA) cells, and in the differentiation of ACA vs. mesothelioma. We sought to determine the superior antibody for the positive identification of mesothelial cells in these circumstances. Cell block sections of 25 reactive and 8 malignant mesothelioma effusions were immunostained with an avidin-biotin procedure, using antibodies to HBME-1 and calretinin. No pretreatment of samples was necessary for the HBME-1-stained slides; microwave antigen retrieval was performed on all slides stained for calretinin. A negative control was performed on each sample. The staining intensity of tumor cells was scored on a scale of 0,3+, with the proportion of immunoreactive cells categorized as <25%, 25,50%, 50,75%, and >75%. The predominant staining pattern for HBME-1 was surface, with rare samples also exhibiting cytoplasmic staining as well. The calretinin-staining pattern was cytoplasmic, with peripheral condensation/prominence and accompanying nuclear staining. All samples were immunoreactive with both antibodies. Fifty-five percent (18/33) of samples showed significantly stronger immunoreactivity with calretinin than with HBME-1; 45% (15/33) of samples showed equivalent staining with the two markers. None of the samples in this study showed stronger immunoreactivity with HBME-1 than with calretinin. Sixty-one percent (20/33) of samples stained with HBME-1 at a moderate (2+) intensity. Fifty-five percent (18/33) of samples stained with calretinin at a strong (3+) intensity. While only 12% of samples showed >75% immunoreactivity for HBME-1, 58% of samples showed >75% of cells immunoreactive for calretinin. Calretinin is the preferred marker in identifying mesothelial cells in cytologic samples, showing the highest sensitivity for mesothelial cells, as evidenced by a more intense staining reaction in a higher percentage of cells than with HBME-1. Diagn. Cytopathol. 2001;25:158,161. Published 2001 Wiley-Liss, Inc. [source] Usefulness of the Head-Upright Tilt Test for Distinguishing Syncope and Epilepsy in ChildrenEPILEPSIA, Issue 6 2001J. Eirís-Puñal Summary: ,Purpose: Episodic loss of consciousness in children, whether or not associated with hypertonia or short-duration clonic movements, presents a diagnostic challenge to the pediatrician and child neurologist. We provide some evidence of the usefulness of the head-upright tilt test for investigating the causes of transient loss of consciousness in children, and for distinguishing between syncope, convulsive syncope, and epilepsy. Methods: We studied nine children previously diagnosed as epileptic on the basis of compatible clinical events and epileptiform findings in routine EEGs who were treated over the long term with antiepileptic drugs, but whose clinical records suggested syncope or convulsive syncope rather than epilepsy on reevaluation. All subjects underwent head-upright tilt testing. Results: The tilt-test result was positive in all nine cases, with the patients reporting the same symptoms as in the previously considered epileptic attacks. Conclusions: Inadequate histories and misuse/overinterpretation of EEG results often lead to misdiagnosis of epilepsy in children. The head-upright tilt test is a useful and reliable diagnostic technique, allowing syncopal events to be induced and evaluated under controlled conditions. In a subset of patients, it may help to distinguish epilepsy from simple or convulsive syncope. [source] Intra-abdominal spindle cell lesions: a review and practical aids to diagnosisHISTOPATHOLOGY, Issue 5 2001A Al-Nafussi Intra-abdominal spindle cell lesions: a review and practical aids to diagnosis Intra-abdominal spindle cell lesions are uncommon and often present a diagnostic challenge. An important group of such lesions are the gastrointestinal stromal tumours. Other intra-abdominal spindle cell lesions include fibromatosis, various sarcomas,in particular, leiomyosarcoma, liposarcoma, and malignant peripheral nerve sheath tumour,and, in women, endometrial stromal sarcoma. Less common lesions are inflammatory myofibroblastic tumours, the mesenteric spindle cell reactive lesions, retroperitoneal fibrosis, and solitary fibrous tumour. A variety of intra-abdominal tumours of nonmesenchymal origin may have a spindle cell/sarcomatoid morphology; these include sarcomatoid carcinoma, malignant melanoma and, in women, sarcomatoid granulosa cell tumour. Finally, metastatic sarcomas from pelvic or extra-abdominal organs need also be considered. A set of practical aids to the diagnosis of intra-abdominal spindle cell lesions is presented to assist pathologists dealing with such lesions, particularly with regards to the consideration of differential diagnoses. [source] Diagnostic value of FDG-PET in recurrent colorectal carcinoma: A meta-analysisINTERNATIONAL JOURNAL OF CANCER, Issue 1 2009Chenpeng Zhang Abstract Accurate detection of recurrent colorectal carcinoma remains a diagnostic challenge. The purposes of this study were to evaluate the diagnostic value of Positron emission tomography (PET) using fluor-18-deoxyglucose (FDG) in recurrent colorectal carcinoma with a meta-analysis. All the published studies in English relating the diagnostic value of FDG-PET in the detection of recurrent colorectal carcinoma were collected. Methodological quality of the included studies was evaluated. Pooled sensitivity, specificity and diagnostic odds ratio and SROC (summary receiver operating characteristic curves) were obtained by the statistical software. Twenty-seven studies were included in the meta-analysis. The pooled sensitivity and specificity for FDG-PET detecting distant metastasis or whole body involvement in recurrent colorectal carcinoma were 0.91 (95% CI 0.88,0.92) and 0.83 (95% CI 0.79,0.87), respectively. The pooled sensitivity and specificity for FDG-PET detecting hepatic metastasis were 0.97 (95% CI 0.95,0.98) and 0.98 (95% CI 0.97,0.99). The pooled sensitivity and specificity for pelvic metastasis or local regional recurrence were 0.94 (95% CI 0.91,0.97) and 0.94 (95% CI 0.92,0.96). FDG-PET is valuable for the assessment of recurrent colorectal carcinoma. © 2008 Wiley-Liss, Inc. [source] A child with spider bite and glomerulonephritis: a diagnostic challengeINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 4 2000Jennifer M. Lung MD A previously healthy 7-year-old white boy presented to St. Louis Children's Hospital with a 1-day history of headache, malaise, temperature of 38.7 °C, and a progressively erythematous, tender calf with central dusky purpura. On the morning of admission, his mother noticed a 2-mm crust on the patient's right calf with a 3-cm × 3-cm area of surrounding erythema. No history of recent trauma or bite was obtained. He had suffered two episodes of nonbloody, nonbilious emesis during the last day. In addition, over the previous 12 h, he presented brown urine without dysuria. His mother and brother had suffered from gastroenteritis over the previous week without bloody diarrhea. On initial physical examination, there was a 6-cm × 11-cm macular tender purpuric plaque with a central punctum on the right inner calf, which was warm and tender to the touch, with erythematous streaking towards the popliteal fossa ( Fig. 1). The inguinal area was also erythematous with tender lymphadenopathy and induration, but without fluctuance. Laboratory studies included an elevated white blood cell count of 20,800/,L with 6% bands, 86% segs, and 7% lymphocytes, hemoglobin of 12.5 g/dL, hematocrit of 35.1%, and platelets of 282,000/,L. The prothrombin time/activated partial tissue thromboplastin was 10.4/28.0 s (normal PT, 9.3,12.3 s; normal PTT, 21.3,33.7 s) and fibrinogen was 558 mg/dL (normal, 192,379 mg/dL). Urinalysis showed 1+ protein, 8,10 white blood cells, too numerous to count red blood cells, and no hemoglobinuria. His electrolytes, blood urea nitrogen (BUN), and creatine were normal. The urine culture was negative. Blood culture after 24 h showed one out of two bottles of coagulase negative Staphylococcus epidermidis. Figure 1. (A) 7-year-old boy with painful purpura of the calf The patient's physical examination was highly suggestive of a brown recluse spider bite with surrounding purpura. Over the next 2 days, the surrounding rim of erythema expanded. The skin within the plaque cleared and peeled at the periphery. The coagulase negative staphylococci in the blood culture were considered to be a contaminant. Cefotaxime and oxacillin were given intravenously. His leg was elevated and cooled with ice packs. The patient's fever resolved within 24 h. The lesion became less erythematous and nontender with decreased warmth and lymphadenopathy. The child was discharged on Duricef for 10 days. Because the patient experienced hematuria rather than hemoglobinuria, nephritis was suggested. In this case, poststreptococcal glomerulonephritis was the most likely cause. His anti-streptolysin-O titer was elevated at 400 U (normal, <200 U) and C3 was 21.4 mg/dL (normal, 83,177 mg/dL). His urine lightened to yellow,brown in color. His blood pressure was normal. Renal ultrasound showed severe left hydronephrosis with cortical atrophy, probably secondary to chronic/congenital ureteropelvic junction obstruction. His right kidney was normal. [source] Association of Sjögren's syndrome and rosacea: a diagnostic challengeINTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, Issue 2 2007Leopoldo Luiz Dos SANTOS-NETO Abstract Both Sjögren's syndrome and rosacea present clinical manifestations that include ocular involvement. We report a case of a 45-year-old woman with a history of persistent erythematous malar rash, associated with conjunctival hyperemia, xerophthalmia and blefaritis. The patient filled the current classification criteria proposed for Sjögren's syndrome and those for rosacea. The coexistence of these diseases has not been previously described in the literature. Both diseases have similar symptoms and different treatment approaches. We believe that it is important for clinicians to identify this association in order to provide better care for the patient. [source] Value of p63 and podoplanin (D2-40) immunoreactivity in the distinction between primary cutaneous tumors and adenocarcinomas metastatic to the skin: a clinicopathologic and immunohistochemical study of 79 casesJOURNAL OF CUTANEOUS PATHOLOGY, Issue 4 2010Jose A. Plaza The distinction of metastatic carcinomas to the skin from poorly differentiated primary cutaneous carcinomas and sometimes primary benign adnexal tumors can pose a significant diagnostic challenge. The purpose of this study was to evaluate the role of p63 and podoplanin (D2-40) immunoreactivity for separating primary skin tumors vs. cutaneous metastases of carcinomas from internal organs. Thirty seven primary tumors and 42 cutaneous metastatic adenocarcinomas were evaluated. The 37 primary cutaneous tumors included 14 cases of benign adnexal tumors, 9 malignant skin adnexal neoplasms, and 14 primary squamous and basal cell carcinomas. The 42 metastatic adenocarcinomas all corresponded to metastases from patients with a well-documented history of a primary tumor at another location. We found variable positivity with podoplanin in all primary cutaneous neoplasms including spiradenoma (6/6), hidradenoma (2/4), cylindroma (3/3), desmoplastic trichilemmoma (1/1), poorly differentiated squamous cell carcinoma (4/4), sebaceous carcinoma (1/1), basal cell carcinoma (4/10), trichilemmal carcinoma (2/2), eccrine carcinoma (3/3), microcystic adnexal carcinoma (1/1), adnexal carcinoma NOS (1/1), and porocarcinoma (1/1). In contrast, all metastatic carcinomas were negative (0/42) for podoplanin. In regards to p63, all cases of primary cutaneous tumors were positive for p63 (37/37); in contrast, all cutaneous metastatic carcinomas were negative (0/42). Sensitivity, specificity, and positive and negative predictive values of podoplanin and p63 immunoreactivity to separate primary skin neoplasms from metastatic carcinomas were 78.4, 100.0, 100.0 and 84.0% for podoplanin, respectively, and 100.0, 100.0, 100.0 and 100.0% for p63, respectively. The differences in p63 and podoplanin immunohistochemical expression between primary skin tumors and metastatic carcinomas to the skin were statistically significant (p < 0, 0001). The results of our study suggest that the combined expression of p63 and podoplanin are a useful adjunct for the diagnosis of skin tumors in the clinical setting of a questionable metastasis and may be relatively specific for distinguishing primary skin tumors from metastatic carcinomas to the skin. Plaza JA, Ortega PF, Stockman DL, Suster S. Value of p63 and podoplanin (D2-40) immunoreactivity in the distinction between primary cutaneous tumors and adenocarcinomas metastatic to the skin: a clinicopathologic and immunohistochemical study of 79 cases. [source] Bilateral aberrant axillary breast tissue mimicking lipomas: report of a case and review of the literatureJOURNAL OF CUTANEOUS PATHOLOGY, Issue 2007Samer H. Ghosn The masses exhibited similar consistency to the adjacent normal breast tissue but lacked an associated nipple complex. The clinical impression was lipoma; however, mammography, ultrasonography and skin biopsy revealed ectopic breast tissue. These findings were consistent with the diagnosis of aberrant breast tissue. A subset of ectopic mammary tissue, aberrant breast tissue may constitute a diagnostic challenge and is often misdiagnosed as lipoma, hidradenitis, follicular cyst, or lymphadenopathy. In addition, some studies have suggested that aberrant breast tissue may be at higher risk of malignant degeneration. Therefore, it's important that physicians be familiar with this condition as this may contribute to the early detection of ectopic breast cancer. [source] Histologic mimickers of mycosis fungoides: a reviewJOURNAL OF CUTANEOUS PATHOLOGY, Issue 7 2007Kavitha Reddy Because MF develops slowly over several years and may have a variety of clinical presentations, including itchy patches, plaques or tumors that may be confused with common benign conditions such as eczema and psoriasis, the disease presents a diagnostic challenge. The average time to diagnosis varies but is frequently as long as 3 to 6 years. Skin biopsies frequently reveal non-specific features of several dermatoses; thus, histologic evaluation of the disease is also challenging. Importantly, various significant and/or benign conditions may mimic MF histologically and result in a misdiagnosis of MF. Here we review the reported histologic mimickers of MF and discuss both similar and differentiating features of each, in order to aid in more accurate interpretation of diagnostically challenging skin biopsies. Clinicopathologic correlation is ultimately essential to make accurate diagnosis of MF and its histologic mimickers. [source] Ductal eccrine carcinoma with squamous differentiation: apropos a caseJOURNAL OF CUTANEOUS PATHOLOGY, Issue 6 2007Vishesh Chhibber Sweat gland carcinomas are rare. Given this, they can pose a diagnostic challenge especially in shave biopsy specimens. We present a case of ductal eccrine carcinoma with extensive squamoid differentiation that was repeatedly misdiagnosed by multiple dermatopathologists as squamous cell carcinoma in the initial few biopsies. As the distinction between these two neoplasms is crucial to patient management, we highlight the histologic features of this uncommon entity to highlight the potential diagnostic pitfalls. [source] Non-infectious granulomatous dermatitis: a clinicopathological studyJOURNAL OF CUTANEOUS PATHOLOGY, Issue 12 2006Harsh Mohan Background:, Granulomatous dermatitis frequently presents a diagnostic challenge to dermatopathologists because an identical histologic picture is produced by several causes, and conversely, a single cause may produce varied histologic patterns. Methods:, A retrospective analysis of skin biopsies received over a period of 7 years was performed, and cases of non-infectious granulomatous dermatitis diagnosed on histopathological examination were retrieved. Results:, Out of a total of 586 cases of granulomatous dermatitis, 71 cases (12.11%) were categorized as non-infectious granulomatous dermatitis on the basis of clinicopathological findings. Further subcategorization was done based on morphology of granulomas as epithelioid granulomas; 15 cases of sarcoidosis, 21.1%, one case of Crohn's vulvitis, 1.4%, necrobiotic granulomas; 11 cases of granuloma annulare, 15.4%, two cases of rheumatoid nodule, 2.8%, 10 cases of foreign body granulomas, 14.0%; 32 cases of miscellaneous group, 45%. Conclusions:, Morphology alone is seldom specific and cannot be used as a diagnostic tool for identification of specific diseases. Adequate clinical data and work up in combination of pathological resources can help in elucidation of specific etiology of granulomatous dermatitis. [source] Glomus Coccygeum: Report of a CaseJOURNAL OF CUTANEOUS PATHOLOGY, Issue 1 2005A. Rahemtullah The glomus coccygeum is a vestigial structure related to the canals of Sucquet-Hoyer, an arteriovenous anastomosis surrounded by glomus cells derived from modified smooth muscle and involved in thermoregulation. It is an incidental finding in specimens from the sacral area and may represent a diagnostic challenge to the unaware observer. We present a case of a glomus coccygeum, presenting as a 1.5 mm structure adjacent to a typical pilonidal cyst excised from a 7-month-old boy, that was the subject of a second opinion consultation. The lesion showed small to medium sized clusters of predominantly epithelioid cells with moderate amounts of clear to eosinophilic cytoplasm, intercellular borders and plump, round nuclei with fine chromatin. These cells were closely associated with small vascular channels and nerves. Immunohistochemistry revealed that the epithelioid cells expressed vimentin, muscle-specific actin, neuron-specific enolase, and S-100 protein, were weakly positive for smooth muscle actin, and negative for desmin, synaptophysin and chromogranin. The endothelial cells of the vascular channels were antibody CD31 positive. Recognition of the histological features of glomus coccygeum is important to avoid confusion with glomus tumor and neural or smooth muscle neoplasms in the sacral area. [source] Caring for clients with dual diagnosis in rural communities in Australia: the experience of mental health professionalsJOURNAL OF PSYCHIATRIC & MENTAL HEALTH NURSING, Issue 3 2005C. DEANS rmn, hv cert This paper identifies and describes the experiences of 13 rural mental health professionals who care for clients diagnosed with a mental illness and a coexisting alcohol and other drug disorder (dual diagnosis). Dual diagnosis is a common problem which is often poorly understood and managed by mental health professionals. The effect of excessive substance use on a person's mental well-being can present as a diagnostic challenge as each condition may mask symptoms of the other. The authors utilized a phenomenological approach to discover the experiences of a group of mental health professionals working in rural communities in Victoria, Australia. Caring for clients diagnosed with dual diagnosis was found to be a complex and stressful role that involved high levels of skill and knowledge. Despite the fact that health professionals in rural areas are expected to deliver the most appropriate care to individuals with a dual diagnosis, a number of these rural health professionals have limited preparation and experience in dealing with arising clinical diagnosis issues. Clinicians experience frustration, resentment and powerlessness in their attempt to understand their clients' drug misuse whilst simultaneously endeavouring to provide a quality mental health service. [source] Reproducibility of Airway Responsiveness in Horses Using Flowmetric Plethysmography and Histamine BronchoprovocationJOURNAL OF VETERINARY INTERNAL MEDICINE, Issue 3 2009R. D. Nolen-Walston Background: Inflammatory airway disease has a high prevalence in horses, but is often a diagnostic challenge. Flowmetric plethysmography and histamine bronchoprovocation (FP/HBP) is a simple and effective tool for diagnosis, but reproducibility of these measurements made over time has not been established. Hypothesis: We hypothesize that the measurement of airway responsiveness in horses using FP/HBP is consistent over both short and long periods of time. Animals: Twenty-nine healthy adult horses from 2 university herds. Methods: In this prospective experimental study, airway responsiveness was determined in each horse at day 0 (baseline [BL]) with FP/ HBP, using PC35 (provocative concentration of histamine needed to increase ,flow by 35%) as a measure of airway responsiveness. Each horse was re-tested 1,4 weeks after BL (short-term [ST]) and again at 3,12 months after BL (long-term [LT]). Results: In the ST period, 23/27 (85%) of the horses had a PC35 that was within 1 doubling concentration of histamine of their BL value, with a mean change of 0.52 doubling concentrations (95% CI 0.26,0.79, range 0,2.06). For the LT data, 19/26 (73%) of horses were within 1 doubling concentration of their BL value, with a mean change of 0.81 doubling concentrations (95% CI 0.45,1.17, range 0.14,3.10). There was no significant difference in reproducibility between the 2 groups of subjects. Conclusions and Clinical Importance: Repeated measurements of airway responsiveness obtained with FP/HBP show acceptable reproducibility over time periods up to a year. However, caution must be used when testing horses when ambient air temperature is low. [source] Periodic fever syndromes: a diagnostic challenge for the allergistALLERGY, Issue 12 2007M. Lierl The objective was to present a case of periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA), summarize the medical literature on PFAPA, review the differential diagnosis and suggest a diagnostic approach to periodic fevers in children. A PubMed search was conducted for all case reports and series of patients with PFAPA. The references of these papers yielded further case reports. Review articles or large case series were used for sources of information regarding the other periodic fever and autoinflammatory syndromes. All cases reported as PFAPA were included in the review, even though a few of the cases may not have been accurately diagnosed. The periodic fever and autoinflammatory syndromes of childhood are a group of diseases that cause repeated febrile illnesses with various associated symptoms. Except for PFAPA, each of these diseases is caused by a known genetic mutation. Effective treatment options and long-term prognosis varies among these syndromes. Children with periodic fever or autoinflammatory syndromes sometimes present to an Allergy/Immunology clinic for immunologic evaluation. It is important for the Allergy/Immunology specialist to be familiar with the clinical presentation, diagnostic approach and treatment of these conditions. [source] Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutationMUSCLE AND NERVE, Issue 3 2009Oleg Shchelochkov MD Abstract Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive inborn error of metabolism characterized by impaired mitochondrial ,-oxidation of fatty acids with a chain length between 14 and 18 carbons. While expansion of newborn screening has improved our ability to detect VLCAD deficiency in early childhood, the late-onset form of the disease still presents a significant diagnostic challenge. We report a 20-year-old female with VLCAD deficiency who first presented in infancy with hypoketotic hypoglycemia. In childhood the patient developed complex partial seizures that were aggravated by Lamotrigine treatment. The clinical course in early adulthood was complicated by recurrent, often unprovoked, episodes of rhabdomyolysis and myoglobinuria. In addition, she suffered from chronic myalgia, muscle weakness, and diffuse abdominal tenderness. A muscle biopsy revealed accumulation of fat droplets. Her acylcarnitine profile showed significantly elevated C14, C14:1, C16, and C18-carnitines. Sequence analysis of ACADVL revealed a heterozygous recurrent mutation c.848T>C (p.V283A) and a heterozygous novel splice mutation c.879-8T>A that results in the inclusion of six nucleotides from intron 9 into the transcript sequence. The molecular characterization of this novel mutation and its correlation with the clinical phenotype are discussed. Muscle Nerve 39: 374,382, 2009 [source] The dominantly inherited motor and sensory neuropathies: Clinical and molecular advancesMUSCLE AND NERVE, Issue 5 2006Garth A. Nicholson MB Abstract The rapid advances in the molecular genetics and cell biology of hereditary neuropathy have revealed great genetic complexity. It is a challenge for physicians and laboratories to keep pace with new discoveries. Classification of hereditary neuropathies has evolved from a simple clinical to a detailed molecular classification. However, the molecular classification is not simple to use, as different mutations of the same gene produce a range of phenotypes. The logistics of testing for multiple gene mutations are considerable. This review gives a clinical overview of molecular and clinical advances in the dominant hereditary motor and sensory neuropathies [HMSNs, Charcot,Marie,Tooth (CMT) neuropathy], which account for some 60%,70% of families with CMT. The dominant forms of CMT have cellular mechanisms different from those of recessive forms and are a separate diagnostic challenge, so they are not included in this review. Diagnostic testing requires accurate clinical information and a selective approach to gene screening until the cost of multiple gene mutation screening falls. Accurate molecular diagnosis is critical to genetic counseling. This review concentrates on how molecular information can be used clinically, on how physicians can keep pace with new developments, and on the relevance of this new knowledge to patients. Muscle Nerve, 2006 [source] | ||||||||||||||||||||||||||||