scholarly journals PEDIATRIC MASTOCYTOSIS: AN UPDATE

2021 ◽  
Vol 13 (1) ◽  
pp. e2021069
Author(s):  
Fiorina Giona
Keyword(s):  
Systemic Mastocytosis ◽  
Histamine Receptor ◽  
Skin Lesions ◽  
On Demand ◽  
Receptor Blockers ◽  
Cutaneous Mastocytosis ◽  
Excessive Proliferation ◽  
Kit D816v ◽  
Over Time

Mastocytosis is a rare clonal disorder, characterized by excessive proliferation and accumulation of mast cells (MC) in various organs and tissues. Cutaneous mastocytosis (CM), the most common form in children, is defined when MC infiltration is limited to the skin. Systemic mastocytosis (SM), the most common form in adults, is characterized by MC proliferation and accumulation in organs, such as bone marrow, lymph nodes, liver and spleen (1). Genetic aberrations, mainly the KIT D816V mutation, play a crucial role in the pathogenesis of mastocytosis, resulting in enhancing MC survival and subsequent accumulation in organs and tissues (2,3). CM includes 3 forms: solitary mastocytoma, maculopapular cutaneous mastocytosis (MPCM) and diffuse cutaneous mastocytosis (DCM). In the majority of children with CM, skin lesions regress spontaneously around puberty; unfortunately, in a few cases, it is not a self-limiting disease (4). Even if SM occurs occasionally, all children with mastocytosis require planned follow-up over time. Children with mastocytosis often suffer from MC mediator-related symptoms, the most common of which is itching, often triggered by rubbing the lesions. Management of pediatric mastocytosis is mainly based on strict avoidance of triggers. Treatment with H1 and H2 histamine receptor blockers on demand, and the availability of epinephrine auto-injectors for the patients to use in case of severe anaphylactic reactions are recommended.

scholarly journals Molecular Background, Clinical Features and Management of Pediatric Mastocytosis: Status 2021

2021 ◽  
Vol 22 (5) ◽  
pp. 2586
Author(s):  
Magdalena Lange ◽  
Karin Hartmann ◽  
Melody C. Carter ◽  
Frank Siebenhaar ◽  
Ivan Alvarez-Twose ◽  
...  
Keyword(s):  
Systemic Mastocytosis ◽  
Histamine Receptor ◽  
Germline Mutations ◽  
Skin Lesions ◽  
Hypersensitivity Reactions ◽  
Systemic Involvement ◽  
Triggering Factor ◽  
Receptor Blockers ◽  
Cutaneous Mastocytosis

Pediatric mastocytosis is a heterogeneous disease characterized by accumulation of mast cells in the skin and less frequently in other organs. Somatic or germline mutations in the KIT proto-oncogene are detected in most patients. Cutaneous mastocytosis is the most common form of the disease in children. In the majority of cases, skin lesions regress spontaneously around puberty. However, in few patients, mastocytosis is not a self-limiting disease, but persists into adulthood and can show signs of systemic involvement, especially when skin lesions are small-sized and monomorphic. Children with mastocytosis often suffer from mast cell mediator-related symptoms. Severe hypersensitivity reactions can also occur, mostly in patients with extensive skin lesions and blistering. In a substantial number of these cases, the triggering factor of anaphylaxis remains unidentified. Management of pediatric mastocytosis is mainly based on strict avoidance of triggers, treatment with H1 and H2 histamine receptor blockers, and equipment of patients and their families with epinephrine auto-injectors for use in severe anaphylactic reactions. Advanced systemic mastocytosis occurs occasionally. All children with mastocytosis require follow-up examinations. A bone marrow investigation is performed when advanced systemic mastocytosis is suspected and has an impact on therapy or when cutaneous disease persists into adulthood.

scholarly journals Diffuse Cutaneous Mastocytosis in a Child - a Case Report

2017 ◽  
Vol 9 (3) ◽  
pp. 124-128
Author(s):  
Svetlana Popadić ◽  
Mirjana Gajić-Veljić ◽  
Biljana Marenović ◽  
Miloš Nikolić
Keyword(s):  
Case Report ◽  
Systemic Mastocytosis ◽  
Pediatric Population ◽  
Skin Lesions ◽  
Clinical Findings ◽  
Topical Steroids ◽  
Systemic Involvement ◽  
Clonal Proliferation ◽  
Cutaneous Mastocytosis

Abstract Mastocytosis refers to a group of diseases characterized by a clonal proliferation and accumulation of mast cells in one or more tissues/organs with different clinical presentations. In children, limited cutaneous forms of mastocytosis are rather frequent, while systemic mastocytosis is rare. The diagnosis of cutaneous mastocytosis is based on clinical findings and histopathology. We present a patient who developed skin lesions at the age of 18 months. Clinical findings, confirmed by histopathology, were consistent with diffuse cutaneous mastocytosis. The follow-up period was 7 years. The treatment included oral antihistamines in combination with mast cell stabilizers, mild topical steroids and avoidance of friction. During the follow-up period, there were no signs of systemic involvement, and the quality of life was preserved, despite the large surface of affected skin. This case report should increase the awareness and knowledge of clinicians about this rare form of cutaneous mastocytosis in the pediatric population.

scholarly journals Hypereosinophilic Syndrome of Undetermined Significance – Difficulties in Clinical and Therapeutic Approach

2018 ◽  
Vol 15 (4) ◽  
pp. 61-65
Author(s):  
Vlad Florin Anton ◽  
Polliana Mihaela Leru
Keyword(s):  
Systemic Mastocytosis ◽  
Hypereosinophilic Syndrome ◽  
Genetic Mutation ◽  
High Serum ◽  
Parasitic Infections ◽  
High Dose ◽  
Serum Tryptase ◽  
Major Criterion ◽  
Kit D816v

AbstractWe report a case of a 69-year-old woman who is followed since seven years for persistent blood hypereosinophilia up to 5100/mmc. She has been extensively investigated for other diseases known to induce hypereosinophilia, including allergies, parasitic infections and neoplasia. No end-organ dysfunction could be confirmed. We considered a possible primary hypereosinophilic syndrome (HES) and determined the genetic mutation FIP1L1-PDGFRA characteristic for HES, which was negative.Bone marrow showed reactive eosinophilia with no malignant cells and rare mast cells, less than 15 in aggregates, which is the major criterion for diagnosing mastocytosis. Knowing the association between HES and mastocytosis, we measured and found high serum tryptase levels and positive c-kit D816V genetic mutation, characteristic for systemic mastocytosis. The patient was closely monitored, with regular hematologic and clinical evaluation, mainly for cardiac and neurologic manifestations.A short trial of high dose corticotherapy induced remission of hypereosinophilia, but this could not be maintained with lower doses. The clinical outcome during follow-up period was rather good, except mild cognitive decline and atrial fibrillation.The reported case is illustrative for versatile presentation and difficulties in management of hypereosinophilia in clinical practice.

scholarly journals Mediator-Related Symptoms and Anaphylaxis in Children with Mastocytosis

2021 ◽  
Vol 22 (5) ◽  
pp. 2684
Author(s):  
Knut Brockow ◽  
Katarzyna Plata-Nazar ◽  
Magdalena Lange ◽  
Bogusław Nedoszytko ◽  
Marek Niedoszytko ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Clinical Symptoms ◽  
Systemic Mastocytosis ◽  
Skin Lesions ◽  
Physical Factors ◽  
Complement Components ◽  
Physical Effort ◽  
Typical Finding ◽  
Vibration Stress ◽  
Cutaneous Mastocytosis

Mastocytosis is characterized by the pathological accumulation of mast cells (MC) in various organs. In these patients, MC may degranulate and thereby contribute to clinical symptoms, especially when a concomitant allergy is present. However, MC activation can not only be induced by high-affinity receptors for IgE, but also by anaphylatoxins, neuropeptides, IgG immune complexes, complement-components, drugs, products of bacteria or parasites, as well as physical factors such as heat, cold, vibration, stress, sun, or physical effort. Symptoms due to mediators released by activated MC may develop in adults suffering from systemic mastocytosis, but also evolve in children who usually have cutaneous mastocytosis (CM). Clinically, CM is otherwise characterized by typical brown, maculopapular skin lesions or mastocytoma associated with a positive Darier’s sign. Pruritus and flushing are common and blistering may also be recorded, especially in diffuse CM (DCM). Pediatric patients with mastocytosis may also have gastrointestinal, respiratory, and neurologic complaints. Although anaphylaxis is not a typical finding, pediatric patients with massive skin involvement and high tryptase levels have a relatively high risk to develop anaphylaxis. This paper reviews MC mediator-related symptoms and anaphylaxis in children with mastocytosis, with special emphasis on risk factors, triggers, and management.

scholarly journals Mediator-Related Symptoms and Anaphylaxis in Children with Mastocytosis

2021 ◽  
Author(s):  
Knut Brockow ◽  
Katarzyna Plata-Nazar ◽  
Magdalena Lange ◽  
Bogusław Nedoszytko ◽  
Marek Niedoszytko ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Clinical Symptoms ◽  
Systemic Mastocytosis ◽  
Skin Lesions ◽  
Physical Factors ◽  
Complement Components ◽  
Physical Effort ◽  
Typical Finding ◽  
Vibration Stress ◽  
Cutaneous Mastocytosis

Mastocytosis is characterized by pathological accumulation of mast cells (MC) in various organs. In these patients, MC may degranulate and thereby contribute to clinical symptoms, especially when a concomitant allergy is present. However, MC activation can not only be induced by high-affinity receptors for IgE, but also by anaphylatoxins, neuropeptides, IgG immune complexes, complement-components, drugs, products of bacteria or parasites, as well as physical factors such as heat, cold, vibration, stress, sun, or physical effort. Symptoms due to mediators released by activated MC may develop in adults suffering from systemic mastocytosis, but also evolve in children who usually have cutaneous mastocytosis (CM). Clinically, CM is otherwise characterized by typical brown, maculopapular skin lesions or mastocytoma associated with a positive Darier’s sign. Pruritus and flushing are common and blistering may also be recorded, especially in diffuse CM (DCM). Pediatric patients with mastocytosis may also have gastrointestinal, respiratory, and neurologic complaints. Although anaphylaxis is not a typical finding, pediatric patients with massive skin involvement and high tryptase levels have a relatively high risk to develop anaphylaxis. This paper reviews MC mediator-related symptoms and anaphylaxis in children with mastocytosis, with special emphasis on risk factors, triggers, and management.

scholarly journals Place of anti-histamine in therapy of itching skin of children

2021 ◽  
pp. 4-16
Author(s):  
Sergey S. Masalskiy ◽  
Yuri S. Smolkin
Keyword(s):  
Atopic Dermatitis ◽  
Calcineurin Inhibitors ◽  
Histamine Receptor ◽  
Skin Lesions ◽  
Transepidermal Water Loss ◽  
Food Allergies ◽  
Topical Steroids ◽  
Onset Of Action ◽  
Acute Period ◽  
Receptor Blockers

Itching is a frequent condition at a doctor's appointment of any speciality. A quarter of patients complain of itching of various etiology. In real practice, H1-histamine receptor blockers are prescribed for itching in the first place. The article considers a complex of diseases accompanied by itching of the skin. The itching is a reflex. The classification contains a lot of forms:local and systemic; prurigogenic, neuropathic and psychogenic. Itching has no stable pathogenesis and can be provoked by various conditions. The main types of sensory neurons are opiate and 5-HT-receptors. Urticaria and food allergy are associated with irritation of the skin receptors with histamine and other mast cell mediators. In these cases, antihistamines are the drug of choice regardless of the aetiology of urticaria. In atopic dermatitis, the itching has a complex aetiology: transepidermal water loss, chronic inflammation of the skin with the participation of many cells, secondary hyperinervation of the skin with the formation of a pathological activity focus in the brain. This requires a comprehensive approach to therapy. Xerosisis overcome by the use of emollients and rational skincare. The presence of exacerbation makes it necessary to prescribe topical steroids or calcineurin inhibitors for an acute period s. In the case of the addition of psychogenic itching, antiserotonin 5-HT-blockers drugs, hydroxyzine can be considered. H1-receptor blockers do not affect the intensity of skin lesions in dermatitis, but some molecules can reduce the itching. Quifenadine is the antihistamine dug of the second generation. It can be used in the treatment of allergic itching dermatoses. The rapid onset of action allows you to reach the maximum concentration in the tissues within 1 hour, activate monooxidase and neutralise histamine in the tissue. Quifenadine absence a sedative effect and no respiratory depression.Instructions for the use of the medicinal product can increase the dose by 1,5–2 times.It makes the drug useful for the treatment of manifestations of food allergies and urticaria. The dual antihistamine and antiserotonin action allow the successful use of quifenadine in the acute period of atopic dermatitis, especially provoked by contact with an allergen.

scholarly journals Impact of somatic and germline mutations on the outcome of systemic mastocytosis

2018 ◽  
Vol 2 (21) ◽  
pp. 2814-2828 ◽  
Author(s):  
Javier I. Muñoz-González ◽  
María Jara-Acevedo ◽  
Iván Alvarez-Twose ◽  
Jason D. Merker ◽  
Cristina Teodosio ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Bone Marrow Cells ◽  
Systemic Mastocytosis ◽  
Progression Free Survival ◽  
Serum Levels ◽  
Skin Lesions ◽  
Common Mutation ◽  
Germline Variants ◽  
Targeted Next Generation Sequencing ◽  
Kit D816v

Abstract Systemic mastocytosis (SM) is a highly heterogeneous disease with indolent and aggressive forms, with the mechanisms leading to malignant transformation still remaining to be elucidated. Here, we investigated the presence and frequency of genetic variants in 34 SM patients with multilineal KIT D816V mutations. Initial screening was performed by targeted sequencing of 410 genes in DNA extracted from purified bone marrow cells and hair from 12 patients with nonadvanced SM and 8 patients with advanced SM, followed by whole-genome sequencing (WGS) in 4 cases. Somatic mutations were further investigated in another 14 patients with advanced SM. Despite the fact that no common mutation other than KIT D816V was found in WGS analyses, targeted next-generation sequencing identified 67 nonsynonymous genetic variants involving 39 genes. Half of the mutations were somatic (mostly multilineal), whereas the other half were germline variants. The presence of ≥1 multilineal somatic mutation involving genes other than KIT D816V, ≥3 germline variants, and ≥1 multilineal mutation in the SRSF2, ASXL1, RUNX1, and/or EZH2 genes (S/A/R/E genes), in addition to skin lesions, splenomegaly, thrombocytopenia, low hemoglobin levels, and increased alkaline phosphatase and β2-microglobulin serum levels, were associated with a poorer patient outcome. However, the presence of ≥1 multilineal mutation, particularly involving S/A/R/E genes, was the only independent predictor for progression-free survival and overall survival in our cohort.

Effectiveness of the Chiari Health Index for Pediatrics instrument in measuring postoperative health-related quality of life in pediatric patients with Chiari malformation type I

2020 ◽  
pp. 1-6
Author(s):  
Georgina E. Sellyn ◽  
Alan R. Tang ◽  
Shilin Zhao ◽  
Madeleine Sherburn ◽  
Rachel Pellegrino ◽  
...  
Keyword(s):  
Surgical Intervention ◽  
Type I ◽  
Health Related Quality ◽  
Health Index ◽  
Chiari Malformation Type I ◽  
Related Quality ◽  
Health Related ◽  
Over Time

OBJECTIVEThe authors’ previously published work validated the Chiari Health Index for Pediatrics (CHIP), a new instrument for measuring health-related quality of life (HRQOL) for pediatric Chiari malformation type I (CM-I) patients. In this study, the authors further evaluated the CHIP to assess HRQOL changes over time and correlate changes in HRQOL to changes in symptomatology and radiological factors in CM-I patients who undergo surgical intervention. Strong HRQOL evaluation instruments are currently lacking for pediatric CM-I patients, creating the need for a standardized HRQOL instrument for this patient population. This study serves as the first analysis of the CHIP instrument’s effectiveness in measuring short-term HRQOL changes in pediatric CM-I patients and can be a useful tool in future CM-I HRQOL studies.METHODSThe authors evaluated prospectively collected CHIP scores and clinical factors of surgical intervention in patients younger than 18 years. To be included, patients completed a baseline CHIP captured during the preoperative visit, and at least 1 follow-up CHIP administered postoperatively. CHIP has 2 domains (physical and psychosocial) comprising 4 components, the 3 physical components of pain frequency, pain severity, and nonpain symptoms, and a single psychosocial component. Each CHIP category is scored on a scale, with 0 indicating absent and 1 indicating present, with higher scores indicating better HRQOL. Wilcoxon paired tests, Spearman correlations, and linear regression models were used to evaluate and correlate HRQOL, symptomatology, and radiographic factors.RESULTSSixty-three patients made up the analysis cohort (92% Caucasian, 52% female, mean age 11.8 years, average follow-up time 15.4 months). Dural augmentation was performed in 92% of patients. Of the 63 patients, 48 reported preoperative symptoms and 42 had a preoperative syrinx. From baseline, overall CHIP scores significantly improved over time (from 0.71 to 0.78, p < 0.001). Significant improvement in CHIP scores was seen in patients presenting at baseline with neck/back pain (p = 0.015) and headaches (p < 0.001) and in patients with extremity numbness trending at p = 0.064. Patients with syringomyelia were found to have improvement in CHIP scores over time (0.75 to 0.82, p < 0.001), as well as significant improvement in all 4 components. Additionally, improved CHIP scores were found to be significantly associated with age in patients with cervical (p = 0.009) or thoracic (p = 0.011) syrinxes.CONCLUSIONSThe study data show that the CHIP is an effective instrument for measuring HRQOL over time. Additionally, the CHIP was found to be significantly correlated to changes in symptomatology, a finding indicating that this instrument is a clinically valuable tool for the management of CM-I.

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