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Microscopic Findings (microscopic + finding)
Kinds of Microscopic Findings Selected AbstractsGross and Microscopic Findings in Patients Submitted to Nonablative Full-Face Resurfacing Using Intense Pulsed Light: A Preliminary StudyDERMATOLOGIC SURGERY, Issue 8 2002Enrique Hernández-Pérez MD background. Intense pulsed light (IPL) is a noncoherent, nonlaser, filtered flashlamp emitting a broadband visible light that has been shown to be effective in photoepilation, as well as in a number of vascular and pigmented lesions of the skin. Their efficacy has also been reported recently in the treatment of photodamaged facial skin. In the last condition, however, there are few studies showing the clinical and microscopic changes produced by IPL. objective. To assess the gross and microscopic changes that occur in photodamaged skin submitted to nonablative full-face resurfacing (NAFFR) using IPL. methods. Five women were submitted to five NAFFR sessions using IPL, one every 2 weeks. Skin biopsies and photographs were taken on all of the patients before the first procedure and after the last one, as well as weekly clinical assessment. Data concerning skin features (wrinkles, oiliness, thickness, dilated pores, and general appearance) were all assessed. Microscopic improvement of the aging features in the epidermis and dermis were all assessed. For the statistical analysis a t test for small samples was used. results. All the patients showed clinical and microscopic improvement in every one of the parameters assessed. The t test for small samples showed a statistically significant difference (P < 0.01) in epidermal thickness. conclusion. Facial photodamage was clinically and microscopically improved using IPL. Use of IPL as a rejuvenating method seems to be promising, with minimal side effects, a wide safety margin, and minimal downtime. [source] Bilateral zosteriform extragenital lichen sclerosus et atrophicus: A new clinical presentationTHE JOURNAL OF DERMATOLOGY, Issue 5 2010Jeng-Feng CHEN Abstract We report a 13-year-old female child with sequentially occurring lesions of extragenital zosteriform lichen sclerosus et atrophicus (LSA). The skin lesions first appeared at the right waist when she was 8 years and gradually extended inferiorly and medially along the dermatome of the right L1,2. Subsequently, another skin lesion occurred along the dermatome of the left L5,S1 from the left buttock to left dorsum of the foot in the following 5 years. Microscopic findings obtained from the right inguinal sclerotic plaque revealed typical features of LSA. We report the first case of bilateral zosteriform LSA and remind clinicians of including lichen sclerosus in the differential diagnoses of cutaneous zosteriform lesions. [source] Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: Histological observation and comparison of genotypes and clinical phenotypesTHE JOURNAL OF DERMATOLOGY, Issue 7 2008Taisuke KONDO ABSTRACT Dyschromatosis symmetrica hereditaria (DSH), is a pigmentary genodermatosis of autosomal dominant inheritance. Since we clarified that the disease is caused by a mutation of the adenosine deaminase acting on the RNA 1 gene (ADAR1) in 2003, the molecular pathogenesis of a peculiar clinical feature of the disease has been expected to be clarified. We examined five familial cases and one sporadic case of Japanese families with DSH. The mutation analyses were done with single-strand conformation polymorphism/heteroduplex (SSCP/HD) analysis and direct sequencing of ADAR1. The DNA analysis of each patient revealed one missense mutation (p.F1091S), two nonsense mutations (p.C893X, p.S581X) and three frame-shift mutations (p.E498fsX517, p.F1091fsX1092, p.L855fsX856). Visual and electron microscopic findings showed abundant melanin pigment deposited all over the basal layer, and enlarged melanocytes with long dendrites located in the pigmented lesions with small or immature melanosomes scattered sparsely in the cytoplasm, but in the adjacent keratinocytes many small melanosomes were singly dispersed or aggregated. The hypopigmented areas showed little melanin deposition and reduced numbers of melanocytes in which much degenerative cytoplasmic vacuole formation could be observed by electron microscopy. Herein, we report six cases of DSH with six novel mutations. The variety of their clinical phenotypes even in the pedigree may suggest the presence of factors other than the ADAR1 gene influencing the extent of the clinical skin lesion. Microscopic findings suggest that the clinical appearance must have developed directly by melanocyte variations mainly induced by the ADAR1 gene mutations. [source] Chronic Pharmacological and Safety Evaluation of HematideÔ, a PEGylated Peptidic Erythropoiesis-Stimulating Agent, in RodentsBASIC AND CLINICAL PHARMACOLOGY & TOXICOLOGY, Issue 2 2009Kathryn W. Woodburn To support the safety of long-term dosing of chronic renal failure patients, a comprehensive toxicology programme was implemented including rat subchronic and chronic studies. Rats were administered 0, 0.1, 1 and 10 mg/kg of Hematide every 3 weeks for 3 months via subcutaneous injection or for 6 months via intravenous injection. The dosing period was followed by a 6-week follow-up period. The primary pharmacology of Hematide resulted in erythroid polycythemia as measured by elevated haemoglobin levels that were time- and dose-dependent. The pharmacology profiles were similar regardless of administration route. For example, for male rats at Day 90, subcutaneous dosing resulted in haemoglobin increases of 2.7, 4.5 and 6.9 g/dl for 0.1, 1 and 10 mg Hematide/kg respectively, compared to 2.8, 5.7 and 7.4 g/dl increases for intravenous dosing. Histopathological changes were related to the prolonged severe polycythemia induced in normocythemic animals administered an erythropoiesis-stimulating agent. The findings included extramedullary haematopoiesis in the spleen and liver, bone marrow hypercellularity and organ congestion. Microscopic findings were reversible, demonstrating a return towards control findings within 6 weeks following cessation of dosing. Systemic exposures, based on both area under the curve (AUC) and maximum concentration (Cmax), were substantially greater for intravenous than subcutaneous administration. No Hematide-specific antibodies were detected. In conclusion, Hematide is a potent erythropoiesis-stimulating agent, and the studies provide support for the safety of clinical development, including chronic dosing, for the treatment of anaemia associated with chronic renal failure. [source] Progressive Supranuclear Palsy: Pathology and GeneticsBRAIN PATHOLOGY, Issue 1 2007Dennis W. Dickson Progressive supranuclear palsy (PSP) is an atypical Parkinsonian disorder associated with progressive axial rigidity, vertical gaze palsy, dysarthria and dysphagia. Neuropathologically, the subthalamic nucleus and brainstem, especially the midbrain tectum and the superior cerebellar peduncle, show atrophy. The substantia nigra shows loss of pigment corresponding to nigrostriatal dopaminergic degeneration. Microscopic findings include neuronal loss, gliosis and neurofibrillary tangles in basal ganglia, diencephalon and brainstem. Characteristic tau pathology is also found in glia. The major genetic risk factor for sporadic PSP is a common variant in the gene encoding microtubule-associated protein tau (MAPT) and recent studies have suggested that this may result in the altered expression of specific tau protein isoforms. Imaging studies suggest that there may be sensitive and specific means to differentiate PSP from other parkinsonian disorders, but identification of a diagnostic biomarker is still elusive. [source] Mass-forming extramedullary hematopoiesis diagnosed by fine-needle aspiration cytologyDIAGNOSTIC CYTOPATHOLOGY, Issue 12 2006Maria Luisa C. Policarpio-Nicolas M.D. Abstract Extramedullary hematopoiesis (EMH) is usually a microscopic finding. However, it may present as a mass-forming lesion making it amenable to fine-needle aspiration biopsy (FNAB). When mass-forming EMH occurs, it can simulate a neoplasm clinically and radiologically. Additionally, the megakaryocytes can mimic malignant neoplastic cells, particularly if EMH is not a considered diagnosis. We report six cases of mass-forming EMH diagnosed by FNAB and evaluate the utility of FNAB in diagnosing EMH. Four patients had prior diagnoses of hematologic disorders, one patient had malignant mastocytosis who presented with lymphadenopathy and one patient had a history of carcinoma. The patients' ages ranged from 46 to 78 yr with an equal sex distribution. Aspirate smears showed trilineage hematopoiesis. The cytomorphologic differential diagnosis included metastatic carcinoma, Hodgkin lymphoma and myeloid sarcoma. No special stains were necessary due to the classic cytologic findings and prior hematologic history. Diagn. Cytopathol. 2006; 34:807,811. © 2006 Wiley-Liss, Inc. [source] Adenomyosis with a sex cord-like stromal elementPATHOLOGY INTERNATIONAL, Issue 4 2000Masaharu Fukunaga A case of adenomyosis with a sex cord-like stromal element is described. The element was an incidental, solitary, microscopic finding in a focus of adenomyosis. It was characterized by cord and trabecular arrangements of round to polygonal shaped cells in the endometrioid stroma. The cells were immunohistochemically positive for desmin and alpha-smooth muscle actin but negative for sex cord markers (alpha-inhibin and O13). The element appears to originate from the endometrial stromal cells through smooth muscle metaplasia. [source] Tamoxifen in the Management of Pseudoangiomatous Stromal HyperplasiaTHE BREAST JOURNAL, Issue 6 2001Sandhya Pruthi MD Pseudoangiomatous stromal hyperplasia (PASH) is a relatively uncommon histologic finding in breast specimens. The clinicopathologic spectrum of this disease entity can range from a focal nonsignificant microscopic finding to a dominant palpable breast mass. To confirm the diagnosis, a biopsy is required primarily to distinguish PASH from a low-grade angiosarcoma. The mammographic description of PASH is a round or ovoid, circumscribed or partially circumscribed mass. The sonographic feature is a hypoechoic mass. PASH is similar to a fibroadenoma in clinical and imaging features. Progressive breast enlargement associated with engorgement, cyclical breast pain, and burning sensation is of significant concern for some women. The management of the palpable mass and associated symptoms has included excisional biopsy, often leading to recurrent excisions and even mastectomy. This report documents an impressive response to tamoxifen in a patient with PASH presenting with breast enlargement, pain, and breast masses. To our knowledge, there are no reports on the use of tamoxifen or other selective estrogen receptor modulators in the management of this benign breast condition. [source] Rapidly growing nodular pseudoangiomatous stromal hyperplasia of the breast in an 18-year-old girl,APMIS, Issue 5 2006Case report Pseudoangiomatous stromal hyperplasia (PASH) of the breast is a rare benign proliferation of mesenchymal stromal cells with irregular slit-like formations resembling angiomatous structures. In the majority of cases this lesion is a focal microscopic finding in breast biopsies performed for benign or malignant diseases. It may present in a pure diffuse or nodular form. The exact etiology and pathogenesis of this tumor-like lesion is still unknown, but a proliferative response of myofibroblasts to hormonal stimuli has been postulated. A large 12×9×3.5 cm rapidly growing nodular form of PASH of the breast in an 18-year-old woman is here described with clinical and histological findings. A possible hormonal etiology was indicated by elevated progesterone (three-fold) and decreased estrogen serum levels. Different diagnostic lesions, such as giant fibroadenoma and low-grade angiosarcoma, are discussed. To the authors' knowledge this is only the fourth case of nodular PASH of the breast reported in the English literature. [source] Clinical, Histologic, and Ultrastructural Changes after Nonablative Treatment with a 595-nm Flashlamp-Pumped Pulsed Dye Laser: Comparison of Varying SettingsDERMATOLOGIC SURGERY, Issue 7 2004David J. Goldberg MD Background. The flashlamp-pulsed dye laser has been used for nonablative dermal remodeling. Objective. We conducted a study analyzing the clinical, histologic, and electron microscopic findings after treatment with different flashlamp-pulsed dye laser settingss in the same subject. Results. Most subjects showed mild to moderate improvement after flashlamp-pulsed dye laser laser treatment. There was no statistical difference in the clinical, histologic, or electron microscopic findings with a variety of laser treatment settings. Conclusion. Nonablative dermal remodeling can be accomplished with not only a variety of different technologies, but also with the same laser using markedly different settings. [source] Cytohistologic and electron microscopic findings in bronchoalveolar lavage fluid in a case of pulmonary alveolar proteinosisDIAGNOSTIC CYTOPATHOLOGY, Issue 1 2002Raj K Gupta M.D. No abstract is available for this article. [source] Plant sterol guggulsterone inhibits nuclear factor-,B signaling in intestinal epithelial cells by blocking I,B kinase and ameliorates acute murine colitisINFLAMMATORY BOWEL DISEASES, Issue 12 2006Jae Hee Cheon MD Abstract Background/Aims: The plant sterol guggulsterone has been shown to have anti-inflammatory properties. It remains unknown, however, whether guggulsterone is effective for the treatment of inflammatory bowel disease (IBD). Therefore, we investigated anti-inflammatory effects of guggulsterone on intestinal epithelial cells (IEC) and on experimental murine colitis models and elucidated its molecular mechanisms. Methods: Human Caco-2 cells and rat non-transformed IEC-18 cells were stimulated with interleukin (IL)-1, or lipopolysaccharide (LPS) with or without guggulsterone. The effects of guggulsterone on nuclear factor (NF)-,B signaling in IEC were examined by intercellular adhesion molecule (ICAM)-1 real-time reverse-transcription polymerase chain reaction, NF-,B transcriptional activity assay, Western blotting for I,B phosphorylation/degradation, electrophoretic mobility shift assay, and in vitro I,B kinase (IKK) assay. For in vivo study, dextran sulfate sodium (DSS)-treated mice were fed with or without guggulsterone. Colitis was quantified by disease activity index and evaluation of macroscopic and microscopic findings. Phosphorylation of I,B and IKK in colon mucosa was assessed by Western blotting and immunohistochemistry. Results: Guggulsterone significantly inhibited LPS- or IL-1,-induced ICAM-1 gene expression, NF-,B transcriptional activity, I,B phosphorylation/degradation, and NF-,B DNA binding activity in IEC. Moreover, guggulsterone strongly blocked IKK activity. Administration of guggulsterone significantly reduced the severity of DSS-induced murine colitis as assessed by clinical disease activity score, colon length, and histology. Furthermore, tissue upregulation of I,B and IKK phosphorylation induced by DSS was attenuated in guggulsterone-treated mice. Conclusion: Guggulsterone blocks NF-,B signaling pathway by targeting IKK complex in IEC and attenuates DSS-induced acute murine colitis, which suggests that guggulsterone could be an attractive therapeutic option in the treatment of IBD. [source] Oral mesalamine and clinical remission are associated with a decrease in the extent of long-standing ulcerative colitisINFLAMMATORY BOWEL DISEASES, Issue 7 2006Michael F. Picco MD Abstract Objective: To compare colonoscopy alone with surveillance biopsy for the determination of anatomic extent in long-standing ulcerative colitis (UC). To assess the influences of mesalamine use and clinical disease activity on the change of histologic extent with time. Materials and Methods: Disease extent (proctosigmoiditis, left-sided colitis, or pancolitis) measured by colonoscopy and surveillance biopsy was compared among 212 consecutive patients with long-standing UC. Among the 102 patients who had 2 consecutive colonoscopies with surveillance biopsies, the following influences on change in histologic extent were determined: disease activity, mesalamine use, age at disease onset, folic acid, corticosteroid and azathioprine/6-mercaptopurine use, and time between colonoscopies. Results: Agreement between gross and microscopic findings was poor (, = 0.39). Colonoscopy underestimated and overestimated extent in 25.9% and 8.5%, respectively. Microscopic distribution between consecutive colonoscopies remained the same in 60.8%. Where distribution changed, an increase was twice as common as a decrease in extent. There was no difference in age at onset, time between colonoscopies, or disease duration among those with an increase, decrease, or no change in extent. Clinical remission and oral mesalamine were independently associated with 10.7 and 5.8 times the odds of a decrease in disease extent, respectively. Folic acid, topical mesalamine, corticosteroids, and immunomodulators did not influence change in extent. Conclusions: UC extent is best determined by surveillance biopsy. Among patients with long-standing UC, histologic extent fluctuates with time. Disease remission and oral mesalamine were independently associated with decreases in disease extent. [source] Pseudoxanthoma Elasticum (PXE)-Like Fibers in Patients Without PXEJOURNAL OF CUTANEOUS PATHOLOGY, Issue 1 2005A.R. Bowen Pseudoxanthoma elasticum (PXE) is an inherited disorder characterised by progressive calcification of elastic fibers in the skin, eyes and cardiovascular system. Skin lesions show distinctive thickened, fragmented elastic fibers in the reticular dermis. PXE-like fibers have not been described in patients without PXE. We describe 12 patients without known PXE who demonstrated the incidental finding of small numbers of PXE-like fibers in association with the following conditions: lipodermatosclerosis, granulomatous dermatitis, lichen sclerosus, morphea profunda, erythema nodosum, septal panniculitis, basal cell carcinoma and fibrosing dermatitis NOS. The biopsies were almost exclusively from the lower extremities of elderly women (mean age 73.8). The affected gene in PXE has been recently described as ABCC6 which codes for a member of the ATP-binding cassette (ABC) family of proteins. The c.3421C>T mutation has been associated with a high risk of coronary artery disease. We describe a novel assay for this genotype employing real-time PCR of paraffin embedded skin biopsies. Four patients with PXE-like fibers were tested in this fashion and did not carry this mutation. Our series demonstrates that light microscopic findings associated with PXE are not specific, as PXE-like fibers can be observed in patients without clinical or genetic evidence of the disease. [source] Histopathological features of flexural melanocytic nevi: a study of 40 casesJOURNAL OF CUTANEOUS PATHOLOGY, Issue 5 2000Franco Rongioletti Melanocytic nevi in certain locations such as the genital and acral sites may have atypical histologic features simulating melanoma. We studied the microscopic findings of 40 melanocytic nevi of flexural sites (axilla, umbilicus, inguinal creases, pubis, scrotum and perianal area) to verify if flexural nevi show distinctive features similar to melanocytic nevi of the genital skin. The patients were young (mean age 20 years), the lesions were mostly removed for cosmetic reasons and we are not aware of any deaths or complications related to the removed nevi. We found that 22 (55.5%) out of 40 flexural nevi had "a nested and dyshesive pattern" similar to the melanocytic nevi of genital skin. This pattern was characterized by the confluence of enlarged nests with variation in size, shape and position at the dermo-epidermal junction and by the diminished cohesion of melanocytes. Dermatopathologists should pay attention to the "nested and dyshesive pattern" of flexural nevi that may mimick hystologic changes of melanoma. [source] Electron microscopic findings in non-alcoholic fatty liver disease: Is there a difference between hepatosteatosis and steatohepatitis?JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 3 2010Emel Ahishali Abstract Background and Aims:, Non-alcoholic fatty liver disease has long been accepted as benign; however, recent evidence suggests that the disease may progress to cirrhosis and hepatocellular carcinoma, although the natural course of the disease is still unclear. This study was designed to comparatively evaluate electron microscopic features of non-alcoholic fatty liver (NAFL) and non-alcoholic steatohepatitis (NASH). Methods:, Quantitative and semi-quantitative ultrastructural evaluations were performed on liver biopsies from 23 patients, 10 with NAFL and 13 with NASH. Results:, No statistically significant difference was noted between NAFL and NASH patients in ultrastructural features of hepatocytes including megamitochondria, intramitochondrial crystalline inclusions, mitochondrial matrix granules, foamy cytoplasmic appearance, electron-lucent and glycogen-containing nuclear regions, lipofuscin granules, or an increased frequency of vesicles containing electron-dense material in peribiliary Golgi zone; however, the mitochondrial diameter was significantly higher in the NASH patients. Intercellular distance and microvilli between hepatocytes, collagen and electron-dense material accumulation in the space of Disse, electron-dense material accumulation and microvillus density in bile canaliculi did not differ significantly between the groups. Conclusions:, Our data show that, although NAFL and NASH can be distinguished by their distinct light microscopic features, ultrastructural characteristics are similar, which suggests that NAFL may also have the potential to progress to fibrosis and cirrhosis like NASH. [source] Epidermal Growth Factor Induces Oxidative Neuronal Injury in Cortical CultureJOURNAL OF NEUROCHEMISTRY, Issue 1 2000Yoo Kyung Cha Abstract : Recently, we have demonstrated that certain neurotrophic factors can induce oxidative neuronal necrosis by acting at the cognate tyrosine kinase-linked receptors. Epidermal growth factor (EGF) has neurotrophic effects via the tyrosine kinase-linked EGF receptor (EGFR), but its neurotoxic potential has not been studied. Here, we examined this possibility in mouse cortical culture. Exposure of cortical cultures to 1-100 ng/ml EGF induced gradually developing neuronal death, which was complete in 48-72 h ; no injury to astrocytes was noted. Electron microscopic findings of EGF-induced neuronal death were consistent with necrosis ; severe mitochondrial swelling and disruption of cytoplasmic membrane occurred, whereas nuclei appeared relatively intact. The EGF-induced neuronal death was accompanied by increased free radical generation and blocked by the anti-oxidant Trolox. Suggesting mediation by the EGFR, an EGFR tyrosine kinase-specific inhibitor, C56, attenuated EGF-induced neuronal death. In addition, inhibitors of extracellular signal-regulated protein kinase 1/2 (Erk-1/2) (PD98056), protein kinase A (H89), and protein kinase C (GF109203X) blocked EGF-induced neuronal death. A p38 mitogen-activated protein kinase inhibitor (SB203580) or glutamate antagonists (MK-801 and 6-cyano-7-nitroquinoxaline-2,3-dione) showed no protective effect. The present results suggest that prolonged activation of the EGFR may trigger oxidative neuronal injury in central neurons. [source] Relationship between Lens culinaris agglutinin-reactive ,-fetoprotein and pathologic features of hepatocellular carcinomaLIVER INTERNATIONAL, Issue 4 2005Toshifumi Tada Abstract: Aim: We investigated pathological features of Lens culinaris agglutinin-reactive ,-fetoprotein (AFP-L3)-positive hepatocellular carcinoma (HCC) in order to seek a pathological basis of poor prognosis of HCC patients with elevated AFP-L3. Methods: A total of 111 patients with HCC ,5 cm in diameter who underwent hepatic resection were studied. Serum AFP-L3 concentration was measured within a month prior to surgery by lectin-affinity electrophoresis coupled with antibody-affinity blotting, and expressed as AFP-L3 percentage of total AFP. AFP-L3 of 10% or higher was judged to be positive. Pathologic features of resected HCC specimens were evaluated and classified concerning growth pattern (expansive or infiltrative growth), capsule formation, capsule infiltration, septal formation, portal vein invasion, hepatic vein invasion, bile duct invasion, and intrahepatic metastasis. These macroscopic and microscopic findings were compared between AFP-L3-positive and negative HCC specimens. Results: Thirty-three (29.7%) were positive for AFP-L3. The prevalence of HCC with infiltrative growth, with capsule infiltration, with septum formation, with portal vein invasion, and with hepatic vein invasion was significantly higher in AFP-L3-positive group (P=0.0121, 0.0290, 0.0442, 0.0314, and 0.0433, respectively). These pathologic features reportedly indicate the progression of the tumor. Conclusions: AFP-L3-positive HCC had several pathologic features of progressed state of HCC, which accounted for the AFP-L3 as an indicator of poor prognosis of HCC. [source] Epidermolysis bullosa nevus arising in a patient with Dowling,Meara type epidermolysis bullosa simplex with a novel K5 mutationTHE JOURNAL OF DERMATOLOGY, Issue 8 2009Hiroko SUGIYAMA-FUKAMATSU Abstract We report herein a 4-year-old girl with Dowling,Meara type epidermolysis bullosa (EB) who presented with peculiar pigmented nevi. Blister formation had repeatedly occurred on the erythematous plaques in a circinate fashion since birth, and marked hyperkeratosis was observed on the palms and soles associated with nail deformity. Her mother and maternal grandmother also had similar symptoms. In addition to the blistering lesions, the patient had three large, asymmetrical, pigmented plaques with color variegation. Light and electron microscopic findings of the blistering lesions showed a subepidermal blister with intracytoplasmic granules in keratinocytes as well as degeneration of basal cells and aggregation of tonofilaments. The pigmented lesions revealed histopathological features of compound nevus without malignant changes. Gene analysis revealed an E478K (Glu to Lys) mutation in exon 5 of the keratin 5 (K5) gene. These findings, together with clinical features, were consistent with those of Dowling,Meara type EB associated with so-called EB nevus. [source] Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: Histological observation and comparison of genotypes and clinical phenotypesTHE JOURNAL OF DERMATOLOGY, Issue 7 2008Taisuke KONDO ABSTRACT Dyschromatosis symmetrica hereditaria (DSH), is a pigmentary genodermatosis of autosomal dominant inheritance. Since we clarified that the disease is caused by a mutation of the adenosine deaminase acting on the RNA 1 gene (ADAR1) in 2003, the molecular pathogenesis of a peculiar clinical feature of the disease has been expected to be clarified. We examined five familial cases and one sporadic case of Japanese families with DSH. The mutation analyses were done with single-strand conformation polymorphism/heteroduplex (SSCP/HD) analysis and direct sequencing of ADAR1. The DNA analysis of each patient revealed one missense mutation (p.F1091S), two nonsense mutations (p.C893X, p.S581X) and three frame-shift mutations (p.E498fsX517, p.F1091fsX1092, p.L855fsX856). Visual and electron microscopic findings showed abundant melanin pigment deposited all over the basal layer, and enlarged melanocytes with long dendrites located in the pigmented lesions with small or immature melanosomes scattered sparsely in the cytoplasm, but in the adjacent keratinocytes many small melanosomes were singly dispersed or aggregated. The hypopigmented areas showed little melanin deposition and reduced numbers of melanocytes in which much degenerative cytoplasmic vacuole formation could be observed by electron microscopy. Herein, we report six cases of DSH with six novel mutations. The variety of their clinical phenotypes even in the pedigree may suggest the presence of factors other than the ADAR1 gene influencing the extent of the clinical skin lesion. Microscopic findings suggest that the clinical appearance must have developed directly by melanocyte variations mainly induced by the ADAR1 gene mutations. [source] Effects of a multilamellar emulsion on glucocorticoid-induced epidermal atrophy and barrier impairmentTHE JOURNAL OF DERMATOLOGY, Issue 2 2006Sung K. AHN ABSTRACT Skin atrophy is one of the most frequent side-effects of the topical glucocorticoid. Skin barrier impairment has also been reported as a steroid-induced side effect. Although there have been various studies on preventing or minimizing this atrophogenic effect, little has been reported about preventing barrier impairment. This study was performed to determine the effects of a multilamellar emulsion (MLE) that had a well-ordered lamellar structure on the steroid-induced barrier impairment and epidermal atrophy. To confirm these effects of MLE, 0.05% clobetasol-17-propionate (CP) and 0.05% clobetasol-17-propionate in MLE (MLE/CP) were topically applied to both flanks of hairless mice for 9 days. The topically applied CP induced a significant impairment of the epidermal permeability barrier, and MLE/CP also did not have a preventive effect on this change. However, skinfold thickness studies and histological studies showed that MLE/CP significantly reduced the steroid-induced atrophy. The topical application of MLE/CP was also shown to have a preventive effect on the steroid-induced increase of the stratum corneum (SC) surface pH. In addition, the electron microscopic findings showed relatively well-conserved lamellar bilayers in the skin treated with MLE, as compared to CP only. The results showed that the topical application of MLE immediately after CP treatment prevented the glucocorticoid-induced transepidermal water loss values increase. Light microscopy measurements showed that the skin treated with MLE immediately after CP treatment for 1 week had a slightly lower decline of skin thickness than did the CP-treated skin. These results suggest that MLE should be effective for preventing glucocorticoid-induced epidermal atrophy and for repairing the barrier impairment. [source] Interdigitating dendritic cell sarcoma of the tonsilASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY, Issue 3 2010Sun Young KIM Interdigitating dendritic cell sarcoma (IDCS) is an extremely rare malignancy derived from antigen-presenting cells, with 55 cases reported thus far. A standard treatment modality is still being debated. This report describes a 56-year-old female who presented with right tonsillar enlargement and right submandibular swelling for 6 months. Treatment with empiric antibiotics did not result in improvement of her symptoms. Fine needle aspiration of the tonsil revealed no malignant cells. Tonsillectomy was eventually performed due to persistent symptoms. Based on microscopic findings, immunohistochemical stains, and review of the literature, the present case was finally diagnosed as IDCS of the tonsil with cervical lymph node involvement. The patient received four cycles of CHOP (cyclophosphamide, doxorubicin, vincristine and prednisone) chemotherapy, and a clinically complete response was achieved followed by adjuvant radiation. [source] In vivo confocal microscopy in recurrent granular dystrophy in corneal graft after penetrating keratoplastyCLINICAL & EXPERIMENTAL OPHTHALMOLOGY, Issue 8 2006Claudio Traversi MD Abstract Two case reports of recurrent granular dystrophy in corneal grafts after penetrating keratoplasty are presented. Slit-lamp examination and confocal microscopy (HRT II) were performed in two patients with recurrent granular dystrophy. All confocal microscopic findings of granular dystrophy were evaluated in the graft. Dystrophic lesions of the donor cornea presented the same confocal microscopic aspects in both eyes, and were similar to granular dystrophy lesions. Confocal microscopy is an imaging method that may provide new information on corneal microanatomy in dystrophies. It may be particularly useful in improving the early diagnosis of dystrophic lesions in corneal grafts. [source] | |||||||||||||||||||||||||