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Cutaneous pathology

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https://www.readbyqxmd.com/read/28318524/cutaneous-angiosarcoma-clinical-and-pathology-study-of-16-cases
#1
C Requena, E Sendra, B Llombart, O Sanmartín, C Guillén, J Lavernia, V Traves, J Cruz
INTRODUCTION AND OBJECTIVES: Primary cutaneous angiosarcoma is one of the most aggressive skin tumors and carries a very poor prognosis. Its initially indolent clinical presentation explains the frequently late diagnosis that, together with its typically multifocal pattern and poor delimitation, often makes surgery difficult. The low incidence of primary cutaneous angiosarcoma means that few large single-center series have been published. We review the clinical and pathologic characteristics of cutaneous angiosarcomas treated in our hospital, looking for prognostic factors and for possible diagnostic traits that could facilitate early diagnosis...
March 16, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28317240/treatment-of-nevus-lipomatosus-cutaneous-superficialis-with-co2-laser
#2
Kabir Sardana, Shivani Bansal, Vijay K Garg, Nita Khurana
Nevus lipomatosus cutaneous superficialis (NLCS) is an uncommon lesion characterized by ectopic adipose tissue in the dermis and can be generalized or localized. It presents as a soft skin colored to yellowish papules or cerebriform plaques occurring usually on the buttock or thigh in a segment distribution. We report a case of NLCS in 38-year-old female, which was treated using the ultrapulse mode CO2 Laser. We describe the scientific logic and clinical results of using the ultrapulse mode in relation to the pathology of NLCS...
March 19, 2017: Journal of Cosmetic Dermatology
https://www.readbyqxmd.com/read/28315612/ultrasound-assessment-of-peripheral-nerve-pathology-in-neurofibromatosis-type-1-and-2
#3
Natalie Winter, Tim W Rattay, Hubertus Axer, Eva Schäffer, Bernhard F Décard, Isabel Gugel, Martin Schuhmann, Alexander Grimm
OBJECTIVE: The neurofibromatoses (NF) type 1 and 2 are hereditary tumor predisposition syndromes caused by germline mutations in the NF1 and NF2 tumor suppressor genes. In NF1 and 2, peripheral nerve tumors occur regularly. For further characterizing nerve ultrasound was performed in patients with NF1 and 2. METHODS: Patients with established diagnosis of NF1 (n=27) and NF2 (n=10) were included. Ultrasound of peripheral nerves and cervical roots was performed during routine follow-up visits...
February 20, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28301547/epidermal-loss-of-g%C3%AE-q-confers-a-migratory-and-differentiation-defect-in-keratinocytes
#4
Colleen L Doçi, Constantinos M Mikelis, Juan Luis Callejas-Valera, Karina K Hansen, Alfredo A Molinolo, Asuka Inoue, Stefan Offermanns, J Silvio Gutkind
G-protein coupled receptors (GPCRs), which activate heterotrimeric G proteins, are an essential class of transmembrane receptors that are responsible for a myriad of signaling events in normal and pathologic conditions. Two members of the G protein family, Gαq and Gα11, activate one of the main GPCR pathways and function as oncogenes by integrating mitogen-stimulated signaling cascades that are active under malignant conditions. Recently, it has been shown that targeted deletion of Gα11 and Gαq from endothelial cells impairs the Rho-mediated formation of focal adherens junctions, suggesting that Gα11/q signaling may also play a significant role in cytoskeletal-mediated cellular responses in epithelial cells...
2017: PloS One
https://www.readbyqxmd.com/read/28300276/reassessing-the-clinical-spectrum-associated-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-syndrome-in-french-fh-mutation-carriers
#5
Marie Muller, Sophie Ferlicot, Marine Guillaud-Bataille, Gwénaël Le Teuff, Catherine Genestie, Sophie Deveaux, Abdelhamid Slama, Nicolas Poulalhon, Bernard Escudier, Laurence Albiges, Nadem Soufir, Marie-Françoise Avril, Betty Gardie, Carolina Saldana, Yves Allory, Anne-Paule Gimenez-Roqueplo, Brigitte Bressac-de Paillerets, Stéphane Richard, Patrick R Benusiglio
We addressed uncertainties regarding Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) by exploring all French cases, representing the largest series to date. Fumarate Hydratase (FH) germline testing was performed with Sanger sequencing and qPCR/MLPA. Enzyme activity was measured when necessary. We carried out whenever possible a pathology review of RCC and S-(2-succino)-cysteine (2SC)/fumarate hydratase immunohistochemistry. We estimated survival using non-parametric Kaplan-Meier. There were 182 cases from 114 families...
March 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28299231/chronic-osteoporotic-pain-in-mice-cutaneous-and-deep-musculoskeletal-pain-are-partially-independent-of-bone-resorption-and-differentially-sensitive-to-pharmacological-interventions
#6
Miyako Suzuki, Magali Millecamps, Lina Naso, Seiji Ohtori, Chisato Mori, Laura S Stone
Although the pathological changes in osteoporotic bones are well established, the characterization of the osteoporotic pain and its appropriate treatment are not fully elucidated. We investigated the behavioral signs of cutaneous and deep musculoskeletal pain and physical function; time-dependent changes in bone mineral density (BMD) and the emergence of the behavioral phenotype; and the effects of pharmacological interventions having different mechanisms of action (chronic intraperitoneal administration of pamidronate [0...
2017: Journal of Osteoporosis
https://www.readbyqxmd.com/read/28295973/cutaneous-phaeohyphomycosis-in-a-hematopoietic-stem-cell-transplant-patient-caused-by-alternaria-rosae-first-case-report
#7
Amy W Liu, Allen C Bateman, Adam Greenbaum, Kanishka Garvin, Jill Clarridge, Jonathan Grim
Alternaria species have been reported as a rare cause of fungal infection in organ and stem cell transplant recipients, but to date no reports have been published of infection in humans caused by Alternaria rosae. Here, we report cutaneous A. rosae infection in a 66-year-old farmer with a history of primary myelofibrosis who had undergone allogeneic unrelated donor hematopoietic stem cell transplantation. Forty-nine days post transplant, he presented with a nodule on the thumb with no findings suggestive of disseminated infection...
March 13, 2017: Transplant Infectious Disease: An Official Journal of the Transplantation Society
https://www.readbyqxmd.com/read/28295008/-a-case-of-cutaneous-protothecosis
#8
I A Kazantseva, A V Molochkov, A V Sukhov, E V Bondarenko
The paper describes a case of a rare opportunistic infection, such as skin lesion caused by achlorophyllic unicellular algae of the genus Prototheca. It provides a detailed pathologic description of the foci of cutaneous protothecosis, such as pandermal inflammatory infiltrate, granulomas, pseudoepitheliomatous hyperplasia, and intraepidermal abscesses. Criteria for pathogen detection in histological sections are given.
2017: Arkhiv Patologii
https://www.readbyqxmd.com/read/28294378/cutaneous-crohn-disease-with-superimposed-psoriasis-a-unique-case-with-overlapping-histology
#9
Ben J Friedman, Bahar Dasgeb, Jason B Lee
Crohn disease is an idiopathic, chronic inflammatory disorder of the gastrointestinal tract. We recently encountered a unique case in which a patient with longstanding Crohn disease presented with skin lesions with histopathologic features of both psoriasis and granulomatous inflammation suggestive of cutaneous Crohn disease. To our knowledge, this has not been described concomitantly in the same patient, in the same lesions. Review of the literature suggests that the intersection of these two histopathological reaction patterns may not be pure coincidence...
March 14, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28288694/mtor-inhibitors-in-the-pharmacologic-management-of-tuberous-sclerosis-complex-and-their-potential-role-in-other-rare-neurodevelopmental-disorders
#10
REVIEW
David N Franz, Jamie K Capal
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems throughout the body. Dysregulation of the mammalian target of rapamycin (mTOR) pathway is implicated in the disease pathology, and evidence exists to support the use of mTOR inhibitors in treatment. The mTOR pathway has also been investigated as a potential treatment target for several other rare diseases. TSC research has highlighted the value of pursuing targeted therapies based on underlying molecular pathophysiology...
March 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28287424/keloid-and-hypertrophic-scars-are-the-result-of-chronic-inflammation-in-the-reticular-dermis
#11
REVIEW
Rei Ogawa
Keloids and hypertrophic scars are caused by cutaneous injury and irritation, including trauma, insect bite, burn, surgery, vaccination, skin piercing, acne, folliculitis, chicken pox, and herpes zoster infection. Notably, superficial injuries that do not reach the reticular dermis never cause keloidal and hypertrophic scarring. This suggests that these pathological scars are due to injury to this skin layer and the subsequent aberrant wound healing therein. The latter is characterized by continuous and histologically localized inflammation...
March 10, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28281550/reduced-h3k27me3-expression-in-merkel-cell-polyoma-virus-positive-tumors
#12
Klaus J Busam, Melissa P Pulitzer, Daniel C Coit, Maria Arcila, Danielle Leng, Achim A Jungbluth, Thomas Wiesner
Merkel cell carcinoma is a primary cutaneous neuroendocrine carcinoma, which once metastatic is difficult to treat. Recent mutation analyses of Merkel cell carcinoma revealed a low number of mutations in Merkel cell polyomavirus-associated tumors, and a high number of mutations in virus-negative combined squamous cell and neuroendocrine carcinomas of chronically sun-damaged skin. We speculated that the paucity of mutations in virus-positive Merkel cell carcinoma may reflect a pathomechanism that depends on derangements of chromatin without alterations in the DNA sequence (epigenetic dysregulation)...
March 10, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28273310/harvey-cushing-md-a-neurosurgeon-s-contributions-to-cutaneous-pathology
#13
Jasmine Kashkoush, Ahmed Kashkoush, Arpan V Prabhu, Thomas G Benedek
No abstract text is available yet for this article.
March 1, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28266782/systemic-immune-mechanisms-in-atopic-dermatitis-and-psoriasis-with-implications-for-treatment
#14
REVIEW
Emma Guttman-Yassky, James G Krueger, Mark G Lebwohl
Atopic dermatitis (AD) and psoriasis are inflammatory skin diseases that negatively affect patients' quality of life. Although distinctions exist between these diseases, both are characterised by erythematous, thickened epidermal lesions that vary in intensity and affected body surface area. Early models of etiology attributed symptoms of both diseases to cutaneous inflammation at lesion sites, but recent studies have established that activated immune mediators in the circulation drive disease severity. Activation of T helper 2 (Th2) and Th22 cells in the circulation appears to be the principal initiator of acute AD pathology, with the emergence of Th1 and Th17/interleukin (IL)-23 pathway activation marking the transition to a chronic state...
March 7, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28265819/vascular-hyperpermeability-as-a-hallmark-of-phacomatoses-is-the-etiology-angiogenesis-comparable-with-mechanisms-seen-in-inflammatory-pathways-part-i-historical-observations-and-clinical-perspectives-on-the-etiology-of-increased-csf-protein-levels-csf-clotting
#15
REVIEW
Yosef Laviv, Burkhard S Kasper, Ekkehard M Kasper
Phacomatoses are a special group of familial hamartomatous syndromes with unique neuro-cutaneous manifestations as well as disease characteristic tumors. Neurofibromatosis 2 (NF2) and tuberous sclerosis complex (TSC) are representatives of this family. Vestibular schwannoma (VS) and subependymal giant cell tumor (SGCT) are two of the most common intracranial tumors associated with NF2 and TSC, respectively. These tumors can present with obstructive hydrocephalus due to their location adjacent to or in the ventricles...
March 7, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28255959/a-novel-ccm1-krit1-heterozygous-nonsense-mutation-c-1864c-t-associated-with-familial-cerebral-cavernous-malformation-a-genetic-insight-from-an-8-year-continuous-observational-study
#16
Chenlong Yang, Van Halm-Lutterodt Nicholas, Jizong Zhao, Bingquan Wu, Haohao Zhong, Yan Li, Yulun Xu
Cerebral cavernous malformation (CCM) is a congenital vascular abnormality that predominantly affects the central nervous system, but that sometimes encroaches other vital tissues, including the retina, skin, and even liver. The familial form of CCM (FCCM) is considered to be an autosomal dominant disease with incomplete penetrance and variable expression, which is often attributed to mutations in three genes: CCM1, CCM2, and CCM3. We screened a Chinese family diagnosed with FCCM by using Sanger sequencing...
March 2, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28255305/xeroderma-pigmentosum-with-severe-neurological-manifestations-de-sanctis-cacchione-syndrome-and-a-novel-xpc-mutation
#17
Esteban Uribe-Bojanini, Sara Hernandez-Quiceno, Alicia María Cock-Rada
Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis-Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28252627/-clinical-features-of-%C3%A2-metabolism%C3%A2-diseases-of-the-skin-in-patients-with-chronic-diffuse-liver-diseases
#18
O N Pozdnyakova, O B Nemchaninova, S G Lykova, T B Reshetnikova
AIM: To determine the clinical features of skin diseases developing in the presence of metabolic disturbances in patients with chronic diffuse liver diseases. SUBJECTS AND METHODS: A total of 368 patients with different clinical forms of hepatopathy were comprehensively examined. RESULTS: 817 cases of seborrhea, skin itch, xerodermia, xanthomatosis, and dyschromia were detected in 318 (86.4%) patients. CONCLUSION: The prevalence and intensity of cutaneous manifestations depended on the nature of the pathological liver process and indirectly testified to its severity and activity...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28251000/metastatic-cutaneous-melanoma-of-the-gallbladder
#19
Dhruvan Patel, Shazia Sohrawardy, Yub Raj Sedhai, Soney Basnyat, Anisha Daxini, Aparna Basu, Vivek R Mehta, Aasim Mohammed, Steven Lichtenstein
Metastatic melanoma is an aggressive disease that can spread to many organs of the body. In rare cases, it can spread to the gallbladder causing secondary lesions, yet presenting with little to no symptoms. Therefore, most cases of metastatic melanoma lesions to the gallbladder go undiagnosed. Here, we present the case of a 41-year-old male with a four-month history of melanoma of the face, with a postresection status, who presented with right upper quadrant abdominal pain. Doppler ultrasound and computed tomography confirmed the presence of a mass on the gallbladder...
2017: Case Reports in Gastrointestinal Medicine
https://www.readbyqxmd.com/read/28246626/myocutaneous-mucormycosis-in-a-diabetic-burnt-patient-led-to-upper-extremity-amputation-a-case-report
#20
Mehdi Ayaz, Reza Moein
Mucormycosis is a rare opportunistic fungal infection that can implicate cranial sinuses, brain, lungs, gastrointestinal tract and skin. Although it can occur in patients with competent and incompetent immunity such as patients with diabetes mellitus, lymphoma, leukemia and burns, but it has an aggressive, malignant and lethal course in patients with incompetent immunity. To enforce the importance of burn in patients with underlaying diseases such as diabetes, we are going to report a rare case of diabetic burnt patient complicated by right upper extremity myocutaneous mucormycosis...
January 2017: Bulletin of Emergency and Trauma
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