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Mastocytosis and gastrointestinal tract

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https://www.readbyqxmd.com/read/27853507/developing-food-allergy-a-potential-immunologic-pathway-linking-skin-barrier-to-gut
#1
REVIEW
Yui-Hsi Wang
Immunoglobulin E (IgE)-mediated food allergy is an adverse reaction to foods and is driven by uncontrolled type-2 immune responses. Current knowledge cannot explain why only some individuals among those with food allergy are prone to develop life-threatening anaphylaxis. It is increasingly evident that the immunologic mechanisms involved in developing IgE-mediated food allergy are far more complex than allergic sensitization. Clinical observations suggest that patients who develop severe allergic reactions to food are often sensitized through the skin in early infancy...
2016: F1000Research
https://www.readbyqxmd.com/read/27741105/well-differentiated-systemic-mastocytosis-showed-excellent-clinical-response-to-imatinib-in-the-absence-of-known-molecular-genetic-abnormalities-a-case-report
#2
Lanshan Huang, Sa A Wang, Sergej Konoplev, Carlos E Bueso-Ramos, Beenu Thakral, Roberto N Miranda, Elias Jabbour, L Jeffrey Medeiros, Rashmi Kanagal-Shamanna
INTRODUCTION: Well-differentiated systemic mastocytosis (WDSM) is a rare, recently recognized provisional subvariant of systemic mastocytosis (SM). We report a case of WDSM that showed excellent clinical and cutaneous response to imatinib in the absence of known molecular genetic abnormalities. CLINICAL FINDINGS/DIAGNOSES: We present a 24-year-old woman with childhood onset of skin manifestations that progressed to mediator-related systemic events, and a gastrointestinal tract mastocytoma...
October 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27670724/-diffuse-cutaneous-mastocytosis-of-an-infant-a-case-report
#3
H Zaouri, H Amarouch, N Elmakrini, N Tazi, N Ismaili, L Benzekri, K Senouci, B Hassam
Mastocytosis is a group of diseases related to abnormal accumulation and proliferation of mast cells in one or more organs. They may be associated with an acquired point mutation and the activation of the receptor tyrosine-kinase c-KIT of CFS (mast cell growth factor). The clinical manifestations are varied and secondary to the release of mast cell mediators and/or infiltration of various organs. There are two main types of mastocytosis: pure cutaneous mastocytosis and systemic mastocytosis when more than two organs are involved in mast cell infiltration (bone marrow, gastrointestinal tract, bone, liver and spleen, lymph nodes)...
September 23, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27605890/systemic-mastocytosis-a-rare-cause-of-non-cirrhotic-portal-hypertension
#4
Cláudio Martins, Cristina Teixeira, Suzane Ribeiro, Daniel Trabulo, Cláudia Cardoso, João Mangualde, Ricardo Freire, Élia Gamito, Ana Luísa Alves, Isabelle Cremers, Cecília Alves, Anabela Neves, Ana Paula Oliveira
Mastocytosis is a clonal neoplastic disorder of the mast cells (MC) that can be limited to the skin (cutaneous mastocytosis) or involve one or more extracutaneous organs (systemic mastocytosis). The clinical manifestations of mastocytosis are heterogeneous ranging from indolent disease with a long-term survival to a highly aggressive neoplasm with survival of about 6 mo. Although liver involvement in aggressive systemic mastocytosis (ASM) is relatively common, the development of portal hypertension with or without cirrhosis is rare...
July 28, 2016: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/26816852/sympathetic-nervous-system-and-chronic-bladder-pain-a-new-tune-for-an-old-song
#5
REVIEW
Ana Charrua, Rui Pinto, Lori Ann Birder, Francisco Cruz
Chronic bladder pain (CBP) patients present with pelvic pain or discomfort during bladder filling, for at least a period of 6 months, which may be accompanied by lower urinary tract symptoms such as frequency, nocturia, and urgency. However, both the etiology of CBP and pathophysiological mechanisms are not well described. A number of clinical and basic animal model findings support involvement of sympathetic nervous system in chronic pain syndromes such as CBP. Examples include sympathetic overactivity and high plasma or urinary catecholamine levels that have a high correlation with nociceptive symptoms...
October 2015: Translational Andrology and Urology
https://www.readbyqxmd.com/read/26261470/systemic-mastocytosis-presenting-with-gastrointestinal-bone-and-skin-involvement
#6
Maria Rosignuolo, Marta Muscianese, Guglielmo Pranteda
Ultrasonography (US) is often the first imaging study performed in patient with abdominal pain or vague symptoms related to the gastrointestinal tract. To this end, it has been demonstrated that transabdominal sonography achieves good to excellent results in potential bowel disorders; especially, if ultrasonography findings are framed in the context of clinical information. Systemic mastocytosis is not a common disease and it usually involves skin, gastrointestinal tract and bone. It results from a clonal neoplastic proliferation of abnormal mast cells and clinically it can ranges from 'asymptomatic' with normal life expectancy to 'highly aggressive'...
September 2015: Journal of Ultrasound
https://www.readbyqxmd.com/read/26120300/a-case-of-intestinal-mastocytosis-misdiagnosed-as-crohn-s-disease
#7
Stefania Reggiani, Loretta Cosso, Alessandro Adriani, Stefano Pantaleoni, Alessandro Risso, Federico Vittone, Luigi Chiusa, Nicoletta Sapone, Marco Astegiano
Systemic mastocytosis (SM) is a rare, heterogeneous and progressive disease, characterized by the accumulation of atypical mast cells in various organs, including the gastrointestinal tract. Gastrointestinal symptoms are present in up to 80% of patients with SM, the most common being abdominal pain, diarrhea, nausea and vomiting. Up to 50% of patients with SM do not have classical skin lesions at presentation, and in these patients the diagnosis of SM can be difficult for years. Here we report a case of SM that initially mimicked inflammatory bowel disease, although the patient showed poor response to steroid therapy...
May 2015: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/25396140/bullous-mastocytosis-in-a-3-month-old-infant
#8
Dinesh Prasad Asati, Anurag Tiwari
Mastocytosis is a rare myeloid neoplasm characterized by abnormal proliferation and accumulation of mast cells in one or more organ systems including the skin, bone marrow, liver, spleen, lymph nodes and gastrointestinal tract. An infant presenting with bullous lesions is an even rarer clinical presentation of cutaneous mastocytosis. The symptoms and complications are mostly in proportion to the mast cell degranulation in tissues. Management is focused on preventing and treating this event. We report a three-month-old infant with bullous mastocytosis to enhance awareness about this rare diagnosis...
October 2014: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/25329129/cutaneous-mastocytosis-problems-of-clinical-diagnosis-of-four-cases
#9
Virgil Pătraşcu, Andreea Oana Enache, Raluca Niculina Ciurea, Corneliu Cristian Georgescu, Alina Maria Vîlcea, Loredana Elena Stoica, Marius Eugen Ciurea
Mastocytosis is a rare disease characterized by a pathological increased of mast cells in one or more tissues, particularly in the skin, bone marrow, liver, spleen, lymph nodes and gastrointestinal tract. Cutaneous mastocytosis represents over 90% of cases found with predilection in children. The aim of the paper was to summarize the authors' clinical, histopathological and immunohistochemical observations on patients with cutaneous mastocytosis. We present four cases of cutaneous mastocytosis, sporadic form, customized by clinical presentation and age of onset: two installed in the neonatal period, a case with onset in infancy and another in adulthood...
2014: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/25009756/an-unusual-case-of-aggressive-systemic-mastocytosis-mimicking-hepatic-cirrhosis
#10
Xiao-Yang Zhang, Wei-Hua Zhang
Hepatic involvement in aggressive systemic mastocytosis (ASM) is relatively common, and the main clinical features of this disease include hepatomegaly, portal hypertension, ascites, and fibrosis. Cirrhosis is a rare ASM symptom. We report an ASM case that initially mimicked cirrhosis based on clinical and radiographic analyses. The portal tract was expanded by mononuclear inflammatory cells, and an increase in collagen amount was observed in routine histological sections of the biopsied liver. A diagnosis of systemic mastocytosis (SM) was made after ancillary tests for mast cells using bone marrow aspirates...
June 2014: Cancer Biology & Medicine
https://www.readbyqxmd.com/read/24745685/treatment-strategies-in-mastocytosis
#11
REVIEW
Frank Siebenhaar, Cem Akin, Carsten Bindslev-Jensen, Marcus Maurer, Sigurd Broesby-Olsen
Treatment recommendations for mastocytosis are based mostly on expert opinion rather than evidence obtained from controlled clinical trials. In this article, treatment options for mastocytosis are presented, with a focus on the control of mediator-related symptoms in patients with indolent disease.
May 2014: Immunology and Allergy Clinics of North America
https://www.readbyqxmd.com/read/24745677/pathology-of-extramedullary-mastocytosis
#12
REVIEW
Leona A Doyle, Jason L Hornick
Mastocytosis encompasses a group of clinically and pathologically heterogeneous disorders most commonly involving the skin, which typically takes the form of urticaria pigmentosa. Mastocytosis may also involve other organs, most often bone marrow, followed by gastrointestinal tract, liver, spleen, and lymph nodes. The presence of extracutaneous involvement by mastocytosis is a major diagnostic criterion for systemic disease. However, mast cell infiltrates are often subtle in skin and extracutaneous organs, and the histologic features of mastocytosis at different anatomic sites may be variable...
May 2014: Immunology and Allergy Clinics of North America
https://www.readbyqxmd.com/read/24745670/diagnostic-criteria-and-classification-of-mastocytosis-in-2014
#13
REVIEW
Cem Akin, Peter Valent
Mastocytosis is characterized by accumulation of pathologic mast cells in tissues. Most patients with mastocytosis experience mast cell activation symptoms in response to various triggers. The diagnosis of mastocytosis should be made from objective pathologic findings. Modern diagnostic criteria and classification of mastocytosis were proposed in 2000 by an international consensus group and formed the basis of the current World Health Organization (WHO) guidelines, which have been validated to correlate with prognosis and help selection of therapy...
May 2014: Immunology and Allergy Clinics of North America
https://www.readbyqxmd.com/read/24742990/differential-eosinophil-and-mast-cell-regulation-mast-cell-viability-and-accumulation-in-inflammatory-tissue-are-independent-of-proton-sensing-receptor-gpr65
#14
Xiang Zhu, Eucabeth Mose, Simon P Hogan, Nives Zimmermann
Extracellular acidification has been observed in allergic inflammatory diseases. Recently, we demonstrated that the proton-sensing receptor G protein-coupled receptor 65 (GPR65) regulates eosinophil survival in an acidic environment in vitro and eosinophil accumulation in an allergic lung inflammation model. For mast cells, another inflammatory cell type critical for allergic responses, it remains unknown whether GPR65 is expressed and/or regulates mast cell viability. Thus, in the present study, we employed in vitro experiments and an intestinal anaphylaxis model in which both mastocytosis and eosinophilia can be observed, particularly in the gastrointestinal tract, to enable us to directly compare the effect of GPR65 expression on these two cell types...
June 1, 2014: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/24618605/a-clinicopathologic-study-of-24-cases-of-systemic-mastocytosis-involving-the-gastrointestinal-tract-and-assessment-of-mucosal-mast-cell-density-in-irritable-bowel-syndrome-and-asymptomatic-patients
#15
COMPARATIVE STUDY
Leona A Doyle, Golrokh J Sepehr, Matthew J Hamilton, Cem Akin, Mariana C Castells, Jason L Hornick
Counting mast cells in gastrointestinal (GI) mucosal biopsies is becoming an increasingly common practice. The primary reason for this exercise is to evaluate for possible involvement by systemic mastocytosis (SM). However, the features of mastocytosis in GI biopsies are not well described. In addition, recent studies have suggested that increased mast cells may be involved in the pathogenesis of some cases of diarrhea-predominant irritable bowel syndrome (IBS); the term "mastocytic enterocolitis" has been proposed for such cases...
June 2014: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/23991734/systemic-mastocytosis-involving-the-gastrointestinal-tract-case-report-and-review
#16
REVIEW
Amir Behdad, Scott R Owens
Mastocytosis is rare, and is actually a heterogeneous group of diseases that may only involve the skin (urticaria pigmentosa) or that may have a systemic presentation with multiorgan involvement. The gastrointestinal (GI) tract can be affected and symptoms related to GI involvement are often nonspecific. The diagnosis of systemic mastocytosis with primarily GI presentation can be challenging and requires familiarity with this entity and a high index of suspicion. We report a case of systemic mastocytosis primarily diagnosed by the recognition of small intestinal and colonic involvement and review the diagnostic criteria, histopathology, and recent developments regarding this entity...
September 2013: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/23869086/increased-circulating-levels-of-neurotrophins-and-elevated-expression-of-their-high-affinity-receptors-on-skin-and-gut-mast-cells-in-mastocytosis
#17
Wen-Ming Peng, Laura Maintz, Jean-Pierre Allam, Ulrike Raap, Ines Gütgemann, Jutta Kirfel, Eva Wardelmann, Sven Perner, Wei Zhao, Rolf Fimmers, Klaus Walgenbach, Johannes Oldenburg, Lawrence B Schwartz, Natalija Novak
Mastocytosis is a rare heterogeneous disease characterized by increase of mast cells (MCs) in different organs. Neurotrophins (NTs) have been shown to promote differentiation and survival of MCs, which in turn represent a major source of NTs. Thus, a contribution of NTs to mastocytosis seems highly conceivable but has not yet been investigated. We could demonstrate expression of high-affinity NT receptors tropomyosin-related kinase A (TrkA) for nerve growth factor (NGF)-β, TrkB for brain-derived neurotrophic factor, and NT-4 and TrkC for NT-3 on skin MCs; and of TrkA and TrkC on intestinal MCs of patients with mastocytosis...
September 5, 2013: Blood
https://www.readbyqxmd.com/read/23855441/anaphylaxis-in-dogs-and-cats
#18
REVIEW
Daniella L Shmuel, Yonaira Cortes
OBJECTIVE: To review and summarize current information regarding the pathophysiology and clinical manifestations associated with anaphylaxis in dogs and cats. The etiology, diagnosis, treatment, and prognosis is discussed. ETIOLOGY: Anaphylaxis is a systemic, type I hypersensitivity reaction that often has fatal consequences. Many of the principal clinical manifestations involve organs where mast cell concentrations are highest: the skin, the lungs, and the gastrointestinal tract...
July 2013: Journal of Veterinary Emergency and Critical Care
https://www.readbyqxmd.com/read/22968735/-translational-research-and-diagnosis-in-gist
#19
REVIEW
E Wardelmann
Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors in the digestive tract. In up to 90% of cases, they are characterized by activating mutations in the KIT or the PDGFRA gene. GIST represent a paradigm for successful targeted treatment with tyrosine kinase inhibitors (TKI). Since the approval of the TKI imatinib in 2002 the survival of patients with metastatic GIST has tripled. The next logical step was the concept of using imatinib in an adjuvant approach, which was recently shown to increase overall survival significantly...
November 2012: Der Pathologe
https://www.readbyqxmd.com/read/22555026/evaluation-of-mast-cell-activation-syndromes-impact-of-pathology-and-immunohistology
#20
REVIEW
H-P Horny, K Sotlar, P Valent
Mast cell activation syndromes (MCAS) are clinically defined disease states with a largely unknown morphological background. Since mastocytosis may be associated with MCAS, it is crucial in every patient to document or exclude mastocytosis by appropriate histological, molecular, and serological investigations of tissues/organs that are commonly involved in mastocytosis like skin, mucosa of the gastrointestinal tract and bone marrow. Accordingly, histopathological investigation including immunohistological stains is crucial to reach the final diagnosis in such patients and to classify MCAS into primary MCAS, which can present with or without evidence of overt mastocytosis, or secondary MCAS, where an underlying disease with or without tissue inflammation is detected...
2012: International Archives of Allergy and Immunology
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