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 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 Laboratory Tests in Diagnosis of Mastocytosis: Literature Review and Case Report

2020 ◽  
Vol 21 (2) ◽  
pp. 171-178
Author(s):  
Aleksandra S Orlova ◽  
Karina M Shkurlatovskaia ◽  
Ekaterina V Silina ◽  
Polina M Pyatilova ◽  
Natalya P Teplyuk ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Features ◽  
Clinical Symptoms ◽  
Systemic Mastocytosis ◽  
World Health Organisation ◽  
World Health ◽  
Abnormal Growth ◽  
Organ Systems ◽  
Cutaneous Mastocytosis ◽  
Key Aspects

AbstractМastocytosis is a heterogeneous group of disorders characterized by abnormal growth and accumulation of mast cells (MCs) in the skin and/or other organ systems. Mastocytosis is a rare disease. The annual incidence is 5-10 cases per 1 million people. However, the majority of cases stay undiagnosed due to the lack of specific tests and a wide variety of clinical features of the disease. In mastocytosis, somatic mutations of KIT gene lead to autocrine dysregulation and constitutive c-KIT activation in the absence of its ligand SCF. Clinical symptoms of the disease are determined by MC mediator release and/or infiltration of tissues by MCs. According to the World Health Organisation classification updated in 2016 mastocytosis is divided to cutaneous mastocytosis (CM), indolent systemic mastocytosis (ISM), smoldering systemic mastocytosis (SSM), SM with an associated hematologic (non-MC-lineage) neoplasm (SMAHN), aggressive SM (ASM), MC leukemia (MCL) and MC sarcoma (MCS). The CM and ISM prognosis is excellent with (almost) normal life expectancy, unlike aggressive forms (ASM and MCL) with poor prognosis. In this paper the key aspects of clinical features and diagnostic criteria of mastocytosis are discussed. We present a case report of a patient with mastocytosis in the skin following psoralen plus ultraviolet A (PUVA) therapy with good response.

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 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 766. Everything Old is New Again-A Case Series of New World Leishmaniasis in African Children in Portland, Maine

2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S428-S428
Author(s):  
Jennifer Jubulis ◽  
Amanda Goddard ◽  
Elizabeth Seiverling ◽  
Marc Kimball ◽  
Carol A McCarthy
Keyword(s):  
Latin America ◽  
Cutaneous Leishmaniasis ◽  
New World ◽  
Pediatric Patients ◽  
Data Extraction ◽  
Clinical Manifestations ◽  
Case Series ◽  
Surgical Excision ◽  
Skin Lesions ◽  
Travel History

Abstract Background Leishmaniasis has many clinical manifestations and treatment regimens, dependent on species and host. Old world leishmaniasis is found primarily in Africa and Asia, and is associated with visceral disease, while new world disease, seen primarily in Latin America, is more commonly mucocutaneous. We present a case series of pediatric African patients with New World cutaneous leishmaniasis (NWCL). Methods Data extraction was performed via chart review, analyzing travel history, clinical presentation, diagnosis, and management in children with cutaneous leishmaniasis presenting to the pediatric infectious diseases clinic in Portland, ME. Biopsy specimens were sent to the federal CDC for identification by PCR and culture. Results Five cases of NWCL were diagnosed in pediatric patients in Maine from November 2018 through February 2020. Median age of patients was 10 years (range 1.5-15 years). Four cases (80%) occurred in children from Angola or Democratic Republic of Congo, arriving in Maine via Central/South America, with one case in a child from Rwanda who arrived in Maine via Texas. Three patients had multiple skin lesions and two had isolated facial lesions. Leishmaniasis was not initially suspected resulting in median time to diagnosis of 5 months (range 1-7 months). Four patients were initially treated with antibacterials for cellulitis and one was treated with griseofulvin. After no improvement, patients underwent biopsy with 2 patients diagnosed with L panamensis, 1 with L braziliensis, 1 with mixed infection (L panamensis and L mexicana), and 1 with Leishmania species only. One patient was managed with surgical excision, 3 with ketoconazole, and 1 was observed off therapy. Four patients were referred to otolaryngology. All continue to be followed in infectious disease clinic. Conclusion We present five cases of new world cutaneous leishmaniasis in African pediatric patients arriving to Maine through Latin America or Texas. Patients were diagnosed with cellulitis, tinea corporis or atopic dermatitis initially, underscoring importance of high index of suspicion in migrant patients. Detailed travel history and epidemiologic knowledge is essential to diagnosis, as patients may present with illness not congruent with country of origin. Optimal therapy remains unclear. Disclosures All Authors: No reported disclosures

scholarly journals Case of Human Infestation with Dermanyssus gallinae (Poultry Red Mite) from Swallows (Hirundinidae)

Pathogens ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 299
Author(s):  
Georgios Sioutas ◽  
Styliani Minoudi ◽  
Katerina Tiligada ◽  
Caterina Chliva ◽  
Alexandros Triantafyllidis ◽  
...  
Keyword(s):  
Phylogenetic Analysis ◽  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Clinical Symptoms ◽  
Skin Lesions ◽  
Coi Gene ◽  
Dermanyssus Gallinae ◽  
Poultry Red Mite ◽  
Human Form ◽  
Bayesian Phylogenetic Analysis

Dermanyssus gallinae (the poultry red mite, PRM) is an important ectoparasite in the laying hen industry. PRM can also infest humans, causing gamasoidosis, which is manifested as skin lesions characterized by rash and itching. Recently, there has been an increase in the reported number of human infestation cases with D. gallinae, mostly associated with the proliferation of pigeons in cities where they build their nests. The human form of the disease has not been linked to swallows (Hirundinidae) before. In this report, we describe an incident of human gamasoidosis linked to a nest of swallows built on the window ledge of an apartment in the island of Kefalonia, Greece. Mites were identified as D. gallinae using morphological keys and amplifying the Cytochrome C oxidase subunit I (COI) gene by PCR. Bayesian phylogenetic analysis and median-joining network supported the identification of three PRM haplogroups and the haplotype isolated from swallows was identical to three PRM sequences isolated from hens in Portugal. The patient was treated with topical corticosteroids, while the house was sprayed with deltamethrin. After one week, the mites disappeared and clinical symptoms subsided. The current study is the first report of human gamasoidosis from PRM found in swallows’ nest.

scholarly journals Chrysin Inhibits TNFα-Induced TSLP Expression through Downregulation of EGR1 Expression in Keratinocytes

2021 ◽  
Vol 22 (9) ◽  
pp. 4350
Author(s):  
Hyunjin Yeo ◽  
Younghan Lee ◽  
Sungshin Ahn ◽  
Euitaek Jung ◽  
Yoongho Lim ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Skin Lesions ◽  
Therapeutic Agents ◽  
Mitogen Activated Protein Kinase ◽  
Necrosis Factor Alpha ◽  
Extracellular Signal ◽  
Mitogen Activated Protein ◽  
Signaling Axis ◽  
Factor Alpha ◽  
Necrosis Factor

Thymic stromal lymphopoietin (TSLP) is an epithelial cell-derived cytokine that acts as a critical mediator in the pathogenesis of atopic dermatitis (AD). Various therapeutic agents that prevent TSLP function can efficiently relieve the clinical symptoms of AD. However, the downregulation of TSLP expression by therapeutic agents remains poorly understood. In this study, we investigated the mode of action of chrysin in TSLP suppression in an AD-like inflammatory environment. We observed that the transcription factor early growth response (EGR1) contributed to the tumor necrosis factor alpha (TNFα)-induced transcription of TSLP. Chrysin attenuated TNFα-induced TSLP expression by downregulating EGR1 expression in HaCaT keratinocytes. We also showed that the oral administration of chrysin improved AD-like skin lesions in the ear and neck of BALB/c mice challenged with 2,4-dinitrochlorobenzene. We also showed that chrysin suppressed the expression of EGR1 and TSLP by inhibiting the extracellular signal-regulated kinase (ERK) 1/2 and c-Jun N-terminal kinase (JNK) 1/2 mitogen-activated protein kinase pathways. Collectively, the findings of this study suggest that chrysin improves AD-like skin lesions, at least in part, through the downregulation of the ERK1/2 or JNK1/2-EGR1-TSLP signaling axis in keratinocytes.

scholarly journals Allergic rhinitis in pediatric practice: how to identify and manage

2018 ◽  
pp. 142-146
Author(s):  
N. V. Minaeva ◽  
I. P. Koryukina
Keyword(s):  
Health Care ◽  
Allergic Rhinitis ◽  
Child Health ◽  
Pediatric Patients ◽  
Clinical Symptoms ◽  
Quality Criteria ◽  
Care Quality ◽  
Symptomatic Therapy ◽  
Child Health Care ◽  
Pediatric Practice

The issues of diagnosis and management of allergic rhinitis (AR) in pediatric patients are considered on the basis of the current Russian clinical guidelines. The article presents the paediatrician tasks on the collection of anamnesis, the assessment of clinical symptoms, the setting of a preliminary diagnosis, the development of a diagnosis and therapy plan taking into account the modern medical care quality criteria. It also discloses the general principles of AR treatment, approaches to emergency symptomatic therapy using a combined intranasal drug Vibrocil (dimethindene + phenylephrine). The paper provides recommendations for the management of patients with allergic rhinitis in the district covered by child health care.

scholarly journals Place of cytology in the diagnosis of systemic mastocytosis: A case report

2021 ◽  
Vol 7 (2) ◽  
pp. 01-05
Author(s):  
W. Quiddi ◽  
H. Boumaazi ◽  
S. Ed-dyb ◽  
H. Yahyaoui ◽  
M. Aitameur ◽  
...  
Keyword(s):  
Mast Cells ◽  
Hematological Malignancies ◽  
Systemic Mastocytosis ◽  
Bone Marrow Involvement ◽  
Acute Leukemias ◽  
Activating Mutations ◽  
Myeloid Neoplasms ◽  
Organ Systems ◽  
Cutaneous Mastocytosis

Mastocytosis is a heterogeneous group of rare diseases related to the clonal, neoplastic proliferation of morphologically and immunophenotypically abnormal mast cells, that accumulate in one or more organ systems. Their pathophysiology is dominated by activating mutations in C-Kit (Stem Cell Factor receptor). Several pathological forms have been described ranging from isolated cutaneous mastocytosis affecting mainly children, to aggressive systemic mastocytosis described mainly in adults with bone marrow involvement. According to the WHO 2016 classification of hematological malignancies, systemic mastocytosis appear as a new entity of "myeloid neoplasms and acute leukemias" that combines cytology (abnormal mast cells) with other genetic and molecular criteria. We describe through this observation the practical side of hematological cytology in the diagnostic orientation of this serious, rare and underestimated pathology.

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