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Pediatric mastocytosis

C Méni, S Georgin-Lavialle, L Le Saché de Peufeilhoux, J P Jais, S Hadj Rabia, J Bruneau, S Fraitag, K Hanssens, P Dubreuil, O Hermine, C Bodemer
OBJECTIVE: To describe the clinical evolution of a well characterized pediatric mastocytosis (PM) cohort. To analyze the relationship between KIT mutation and the clinical course. DESIGN: Prospective cohort study. Diagnosis was confirmed by identification of KIT mutation on lesional skin biopsy. Mastocytosis subtype, Mast Cell Mediator-Related Symptoms (MC MRS), clinical course were recorded. SETTING: National Clinical Reference Center for Mastocytosis (CEREMAST)...
May 22, 2018: British Journal of Dermatology
Non Hyeon Ha, Yoo Jung Lee, Myong Chul Park, Il Jae Lee, Sue Min Kim, Dong Ha Park
Mastocytosis is a rare disease which occurs in both children and adults, and it can manifest as a solitary or multiple skin lesions. Both can cause cutaneous or systemic symptoms. Because of the heterogeneity of clinical presentation of mastocytosis and its rare prevalence, it can be hard to suspect the mastocytosis at the first time. Most solitary mastocytomas are about 1-5 cm in diameter and have features of brownish-yellow, minimally elevated plaques with a smooth shiny surface. This article presents a case of solitary mastocytoma which occurred in neonate and that we treated through surgical excision...
April 28, 2018: Archives of Craniofacial Surgery
Ashli Lawson, Adnan Mir, Ellen E Wilson
BACKGROUND: Mastocytosis is a rare benign disorder characterized by the finding of mast cells in the skin and other organs, occurring in adult as well as pediatric age groups. The cutaneous form is the most common presentation in childhood and is rarely located on the vulva. CASE: A 9-year-old prepubertal girl presented with bilateral vulvar nodules found incidentally by her pediatrician. Biopsy and histopathologic review confirmed mastocytosis. Her lesions significantly diminished over the following year...
April 2018: Journal of Pediatric and Adolescent Gynecology
Nicholas Klaiber, Santhosh Kumar, Anne-Marie Irani
PURPOSE OF REVIEW: In this review, we examine the current understanding of the pathogenesis, clinical presentations, diagnostic tools, and treatment options of pediatric mastocytosis as well as the natural history of the disease. RECENT FINDINGS: We discuss the emerging concept of mast cell activation syndrome. Mastocytosis in children presents most commonly as isolated cutaneous lesions and is a relatively rare occurrence with excellent prognosis and spontaneous regression often occurring by adolescence...
October 7, 2017: Current Allergy and Asthma Reports
Magdalena Lange, Agata Zawadzka, Stephanie Schrörs, Justyna Słomka, Hanna Ługowska-Umer, Bogusław Nedoszytko, Roman Nowicki
INTRODUCTION: In children, cutaneous mastocytosis (CM) is considered to be a benign disease associated with mast cell mediator-related symptoms. However, systemic mastocytosis (SM) and anaphylaxis may also occur. Since the basal serum tryptase (bsT) level reflects mast cell burden, its determination is recommended in the diagnosis and follow-up. AIM: To compare clinical presentation and the course of mastocytosis in children with normal and clearly elevated bsT levels as well as to assess its usefulness in the diagnosis and monitoring of the course of the disease...
August 2017: Postȩpy Dermatologii i Alergologii
Efstratios Vakirlis, Grigorios Theodosiou, Zoe Apalla, Michael Arabatzis, Elizabeth Lazaridou, Elena Sotiriou, Aimilios Lallas, Demetrios Ioannides
BACKGROUND: The incidence of skin diseases in children is influenced by hereditary, social, and environmental factors. The objective of this study was to determine the incidence of pediatric dermatoses at a University Hospital in Northern Greece. PATIENTS AND METHODS: We reviewed epidemiologic data of 940 patients, aged 0-18 years, who were referred to the outpatient clinic of a University Hospital between January 2013 and December 2015. Demographic data and the frequency of the various diagnoses in various age groups were studied...
2017: Clinical, Cosmetic and Investigational Dermatology
Adam Heinze, Travis J Kuemmet, Yvonne E Chiu, Sheila S Galbraith
BACKGROUND/OBJECTIVES: Urticaria pigmentosa (UP) is the most common form of mastocytosis in children and is associated with systemic signs, symptoms, and triggers. To our knowledge, the effect of UP on children's quality of life has not been studied. The objective of the current study was to characterize the natural history, triggers, and complications of pediatric UP, identify prognostic indicators, and determine its effect on quality of life. METHODS: Between 2002 and 2007, children with three or more mastocytomas diagnosed by a pediatric dermatologist were recruited during visits at the Children's Hospital of Wisconsin Dermatology Clinic (Milwaukee, WI)...
March 2017: Pediatric Dermatology
Marti J Rothe, Jane M Grant-Kels, Hanspaul S Makkar
Cutaneous mastocytosis is characterized by a pathologic increase in mast cells in the skin and may also involve extracutaneous organs. Symptoms, which are triggered by mast cell degranulation, vary depending on the burden of skin disease and the presence of extracutaneous disease. The clinical presentation, risk of systemic disease, pathogenesis, prognosis, and treatment options differ, largely depending on age at presentation. In the pediatric population, spontaneous remission is typical, generally by puberty, whereas in adults, progression is observed...
November 2016: Clinics in Dermatology
Zeynep Tamay, Deniz Özçeker
Mastocytosis is a heterogeneous disorder characterized by clonal proliferation and accumulation of mast cells in one of more organs which may lead to different clinical pictures. Pathological increase and activation of mast cells in various tissues can cause different clinical pictures. Cutaneous mastocytosis limited to the skin is the most typical clinical picture observed in children and systemic mastocytosis is very rare in the pediatric age group. The diagnosis of cutaneous mastocytosis is based on clinical findings, but is often delayed due to lack of clinical awareness of the disease and lack of its consideration in the differential diagnosis...
September 2016: Türk Pediatri Arşivi
Nikhil Rabade, Prashant Tembhare, Nikhil Patkar, Pratibha Amare, Brijesh Arora, P G Subramanian, Sumeet Gujral
Systemic mastocytosis (SM) with associated clonal nonmast cell lineage disease is seen in up to 20% cases of SM. SM is uncommon in the pediatric population. T (8; 21) (q22; q22) is a good prognostic factor in acute myeloid leukemia (AML). However, the presence of SM confers poor prognosis in t (8; 21) (q22; q22) associated AML. We report the case of a child with t (8; 21) (q22; q22) associated AML with SM and her minimal residual disease status over the course of her treatment. In our case, the abnormal mast cells, showing co-expression of CD25 and CD2, persisted even after the marrow showed no evidence of residual AML...
July 2016: Indian Journal of Pathology & Microbiology
Karin Hartmann, Luis Escribano, Clive Grattan, Knut Brockow, Melody C Carter, Ivan Alvarez-Twose, Almudena Matito, Sigurd Broesby-Olsen, Frank Siebenhaar, Magdalena Lange, Marek Niedoszytko, Mariana Castells, Joanna N G Oude Elberink, Patrizia Bonadonna, Roberta Zanotti, Jason L Hornick, Antonio Torrelo, Jürgen Grabbe, Anja Rabenhorst, Boguslaw Nedoszytko, Joseph H Butterfield, Jason Gotlib, Andreas Reiter, Deepti Radia, Olivier Hermine, Karl Sotlar, Tracy I George, Thomas K Kristensen, Hanneke C Kluin-Nelemans, Selim Yavuz, Hans Hägglund, Wolfgang R Sperr, Lawrence B Schwartz, Massimo Triggiani, Marcus Maurer, Gunnar Nilsson, Hans-Peter Horny, Michel Arock, Alberto Orfao, Dean D Metcalfe, Cem Akin, Peter Valent
Cutaneous lesions in patients with mastocytosis are highly heterogeneous and encompass localized and disseminated forms. Although a classification and criteria for cutaneous mastocytosis (CM) have been proposed, there remains a need to better define subforms of cutaneous manifestations in patients with mastocytosis. To address this unmet need, an international task force involving experts from different organizations (including the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology) met several times between 2010 and 2014 to discuss the classification and criteria for diagnosis of cutaneous manifestations in patients with mastocytosis...
January 2016: Journal of Allergy and Clinical Immunology
Almudena Matito, José Mario Morgado, Paula Sánchez-López, Iván Álvarez-Twose, Laura Sánchez-Muñoz, Alberto Orfao, Luis Escribano
BACKGROUND: The role of anesthesia as an elicitor of mast cell (MC) mediator release symptoms in mastocytosis is poorly investigated. OBJECTIVE: To determine the frequency and type of MC mediator release symptoms during anesthetic procedures in mastocytosis patients. METHODS: Medical records were reviewed regarding the anesthetic techniques for 501 mastocytosis patients (459 adults and 42 children; 95 and 5% with systemic involvement, respectively) who were subjected to 676 and 50 anesthetic techniques, respectively...
2015: International Archives of Allergy and Immunology
Tim Wiechers, Anja Rabenhorst, Tina Schick, Liane M Preussner, Anja Förster, Peter Valent, Hans-Peter Horny, Karl Sotlar, Karin Hartmann
BACKGROUND: Mastocytosis, characterized by pathologic accumulation of mast cells, can manifest itself in adulthood or childhood. Pediatric patients usually have cutaneous mastocytosis (CM) with mast cell infiltrates limited to the skin and spontaneous improvement of skin lesions after several years. However, there are some patients with persistent disease resembling adulthood-onset mastocytosis. OBJECTIVE: The current classification of CM differentiates between 3 subforms...
December 2015: Journal of Allergy and Clinical Immunology
A Matito, M Carter
Childhood mastocytosis is usually a clonal mast cell disease related to activating mutations in KIT. The symptoms in childhood mastocytosis are typically cutaneous in nature although systemic symptoms including anaphylaxis due to the release of mast cells (MC) mediators can also manifest. The prevalence of anaphylaxis reported in childhood mastocytosis is higher than the rates reported in the pediatric general population, but lower than the prevalence of anaphylaxis described in adult mastocytosis. An extensive cutaneous involvement was reported as a risk factor for anaphylaxis, and patients with diffuse cutaneous mastocytosis have been documented to have more severe anaphylaxis symptoms...
May 2015: Current Allergy and Asthma Reports
Melody C Carter, Sarah T Clayton, Hirsh D Komarow, Erica H Brittain, Linda M Scott, Daly Cantave, Donna M Gaskins, Irina Maric, Dean D Metcalfe
BACKGROUND: The management of children with pediatric mastocytosis poses a challenge. This is because there is limited information as to the application of clinical and laboratory findings and bone marrow histopathology as they relate to medical intervention and communication. OBJECTIVE: We sought to examine clinical aspects of pediatric mastocytosis in relationship to serum tryptase levels and bone marrow pathology to provide practical guidance for management. METHODS: Between 1986 and 2012, 105 children were evaluated at the National Institutes of Health...
December 2015: Journal of Allergy and Clinical Immunology
Young Min Ahn, Gwan Ui Hong, Sang Hoon Kim, Ho Jung Lee, Hey Sung Baek, Myung Nam Kim, Kui Young Park, Jai Youl Ro
BACKGROUND: Mastocytosis is characterized by a pathological increase in mast cells in organs such as skin and bone marrow. Transglutaminase 2 (TG2) expressed in mast cells contributes to allergic diseases, but its role in mastocytosis has not been investigated. This study aimed to investigate whether TG2 contributes to pediatric mastocytosis. METHODS: Serum, various skin tissues or bone marrow (BM) biopsy and aspirates were obtained from pediatric normal control or patients with indolent systemic mastocytosis (SM), mastocytoma, and urticaria pigmentosa (UP)...
August 2015: Pediatric Allergy and Immunology
Hiroki Yasudo, Tomoaki Ando, Mitsuteru Hiwatari, Akira Oka
Pediatric cutaneous mastocytosis is a rare disease caused by mast cell hyperplasia. We report the case of an infant diagnosed as cutaneous mastocytosis and seasonal allergies. The wheals, flushing, and pruritus of the mastocytosis were unresponsive to combination therapy with an antihistamine, a mast cell stabilizer (sodium cromoglycate), and a leukotriene antagonist. Addition of suplatast tosilate as a treatment for the seasonal allergy also dramatically improved his cutaneous symptoms and signs. Further trials of suplatast tosilate in selected cases of cutaneous mastocytosis are warranted...
May 2015: Pediatric Dermatology
Brigitte Bader-Meunier, Cristina Bulai Livideanu, Claire Larroche, Isabelle Durieu, Laure Artru, Anne Beucher, Grégoire Cormier, Divi Cornec, Michel Delarco, Jean-Jacques Dubost, Christophe Fontaine, Marie-Pierre Gourin, Rose-Marie Javier, Jean-Pierre de Jauréguiberry, Hervé Maisonneuve, Eric Toussirot, Valérie Ugo, Stéphane Echaubard, Nizar Mahlaoui, Achille Aouba, Christine Bodemer, Karine Briot, Laurent Frenzel, Olivier Lortholary, Marie-Olivia Chandesris, Olivier Hermine
OBJECTIVES: We studied the clinical phenotypes and tolerance to treatments in a series of patients affected by both inflammatory joint diseases and mastocytosis. METHODS: This retrospective multicenter study was conducted on behalf of 3 networks focused on mastocytosis, pediatric, and adults' inflammatory joint diseases. Patients who displayed both mastocytosis and inflammatory joint diseases were included. RESULTS: A total of 31 patients were included...
December 2014: Seminars in Arthritis and Rheumatism
Alessandra Iurlo, Umberto Gianelli, Alessandro Beghini, Orietta Spinelli, Nicola Orofino, Francesca Lazzaroni, Stefano Cambiaghi, Tamara Intermesoli, Alessandro Rambaldi, Agostino Cortelezzi
Activating mutations of KIT receptor tyrosine kinase have been reported in different neoplasms. The M541L KIT substitution (KIT(M541L)) has been described to be associated with pediatric mastocytosis, to enhance growth rate of the affected cells and to confer higher sensitivity to imatinib therapy. We investigated the presence of KIT(M541L) in five males with chronic eosinophilic leukemia, not otherwise specified (CEL, NOS), all negative for Platelet-derived growth factor-alpha (PDGFR) or PDGFRbeta abnormalities, which responded to imatinib therapy...
July 15, 2014: Oncotarget
Meredith Barnes, Livia Van, Laura DeLong, Leslie P Lawley
Although the prognosis of maculopapular cutaneous mastocytosis (MPCM), also referred to as urticaria pigmentosa, is often benign, clinicians lack evidence to reliably predict those at risk of associated systemic manifestations. We sought to elucidate clinical markers of disease severity to provide better treatment and prognostic information for individuals with MPCM. A retrospective chart review querying characteristics of children diagnosed with MPCM in the Emory Dermatology Clinic was performed. Follow-up was obtained through a clinical encounter or telephone interview...
May 2014: Pediatric Dermatology
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