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Insect Venom Allergy
Published in Pudupakkam K Vedanthan, Harold S Nelson, Shripad N Agashe, PA Mahesh, Rohit Katial, Textbook of Allergy for the Clinician, 2021
William H Bermingham, Alex G Richter, Mamidipudi T Krishna
Investigation for mastocytosis will typically involve a detailed history, clinical examination for any hallmark features (e.g., urticaria pigmentosa), bT and bone marrow examination (including analysis for gain of function c-KIT mutations, e.g., D816V). There is some evidence of clinical utility of peripheral blood D816V screening, but this warrants further validation prior to widespread adoption (Jara-Acevedo et al. 2015). Patients with confirmed mastocytosis require specific management, including; Clear guidance on emergency management of allergic reaction, with a written management plan guiding the use of epinephrine auto-injectors.Information regarding avoidance of mast-cell stimulating medications, e.g., opiates, radio-contrast media, NSAIDs, etc.Information regarding advice for induction anaesthesia (i.e., use of neuromuscular blockers) if required in the future.Monitoring/treatment for osteopenia/osteoporosis.
Skin
Published in A. Sahib El-Radhi, Paediatric Symptom and Sign Sorter, 2019
Mastocytosis is a group of disorders that are characterised by an accumulation of mast cells in the skin and other organs. Mastocytoma: a benign cutaneous tumour occurring exclusively in infancy; urticaria pigmentosa: multiple small salmon-coloured or red, cutaneous papules; systemic mastocytosis: mast cell infiltrates in the skin, lymph nodes, liver, spleen, bone and GI tract.
Skin
Published in A Sahib El-Radhi, James Carroll, Paediatric Symptom Sorter, 2017
A Sahib El-Radhi, James Carroll
Mastocytosis is a group of disorders that are characterised by accumulation of mast cells in the skin and other organs. Mastocytoma: a benign cutaneous tumour that occurs exclusively in infancy; urticaria pigmentosa: multiple small salmon-coloured or red cutaneous papules; systemic mastocytosis: mast cell infiltrates in the skin, lymph nodes, liver, spleen, bone, gastrointestinal tract.
Mastocytosis and related entities: a practical roadmap
Published in Acta Clinica Belgica, 2023
Michiel Beyens, Jessy Elst, Marie-Line van der Poorten, Athina Van Gasse, Alessandro Toscano, Anke Verlinden, Katrien Vermeulen, Marie-Berthe Maes, J. N. G. Hanneke Oude Elberink, Didier Ebo, Vito Sabato
Patients with mastocytosis can present in three different ways: with typical skin lesions, severe anaphylaxis or recurrent mediator-related symptoms. In children with skin lesions compatible with mastocytosis, a watchful waiting policy can be justified in the absence of certain red flags. However, typical skin lesions in adults should always give rise to a full workup. Second, in case of anaphylaxis both the NICAS and REMA-score are useful tools to check if MC disease should be suspected. In case of an anaphylaxis, determination of acute and baseline serum tryptase is absolutely crucial. Also, an elevated baseline serum tryptase with compatible symptoms could lead one to the diagnosis of mastocytosis, although the most common cause is HαT. Of note, patients with SM can have concurrent HαT and are consequently at great risk of anaphylaxis. To conclude, mastocytosis is a rare disease, but due to its clinical implications a diagnosis should not be missed. Key messages are summarized in Box 3.
Delayed diagnosis of adult-onset mastocytosis
Published in Baylor University Medical Center Proceedings, 2022
Annia Cavazos, Paul Subrt, Jaime A. Tschen
Mastocytosis is manifested as an increase in mast cells in various systems. Mast cells originate from pluripotent progenitor cells expressing the CD34 antigen and exist as two major phenotypes based on the presence of serine proteases tryptase and chymase.1 The diagnosis of systemic mastocytosis is made based on the presence of the major criterion—multifocal, dense infiltrates of mast cells detected in bone marrow or other extracutaneous organ—and one minor criterion or at least three minor criteria. The criteria are a) serum tryptase >20 ng/mL; b) mast cells in the bone marrow, blood, or extracutaneous organ expressing CD2 and/or CD25; c) detection of activating point mutation at codon 816 of KIT in bone marrow, blood, or extracutaneous organs; d) in biopsy >25% of mast cell infiltrate being spindle-shaped or atypical morphology or, among all mast cells in bone marrow aspirate smears, >25% being immature or atypical.2 In patients with insect sting anaphylaxis, an elevated serum tryptase level has been related to clonal mast cell disease. Thus, it is important to evaluate the clinical pattern at presentation as well as laboratory markers and consider a bone marrow biopsy for a specific diagnosis.3
Hypnotherapy in Treatment of Mastocytosis: A Prospective Study
Published in International Journal of Clinical and Experimental Hypnosis, 2021
Frédérique Retornaz, Michel Grino, Audrey Vanhaudenhuyse, Laurent Chiche, Chloé Stavris, Myriam Bennani, Marie Elisabeth Faymonville, Anouk Alitta
Mastocytosis is one of the orphan diseases (fewer than 5 to 10 cases per million per year) and is probably underdiagnosed (Barete, 2014). In France in 2006, 1300 cases of mastocytosis were reported by the Association Française pour les Initiatives de Recherche sur le Mastocyte et les Mastocytoses (AFIRMM: French Association for Research Initiatives on Mastocytes and Mastocytosis; Georgin-Lavialle et al., 2009). Mastocytosis is related to the activation and/or abnormal proliferation of mast cells in one or more organs (Pardanani, 2016). Mast cells are major effector cells of the immune system and play a major role in allergies and anaphylaxis, angiogenesis, bacterial and parasitological defenses, and blood-brain barrier function. Mast cells are characteristically found surrounding blood vessels and nerves and in the external and internal milieu (e.g., the skin, lungs and gastrointestinal tract). Mastocytosis is a mast cell clonal disorder leading to excessive proliferation and abnormal degranulation of mast cells. In 90% of adults and 35% of childhood mastocytosis cases, a C-KIT D816V point mutation (tyrosine kinase) can be detected (Bodemer. et al., 2010; Valent et al., 2017). In other childhood cases of mastocytosis, KIT mutations concern other loci.