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 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 Case for diagnosis

2013 ◽  
Vol 88 (1) ◽  
pp. 131-133 ◽  
Author(s):  
Paula Maio ◽  
Candida Fernandes ◽  
Ana Afonso ◽  
Fernanda Sachse ◽  
José Cabeçadas ◽  
...  
Keyword(s):  
Dendritic Cell ◽  
Plasmacytoid Dendritic Cell ◽  
Skin Lesions ◽  
Cell Tumor ◽  
Lesional Skin ◽  
Systemic Involvement ◽  
Initial Stage ◽  
Dermal Infiltrate ◽  
Multiple Nodules

Blastic plasmacytoid dendritic cell tumor is a rare, highly aggressive systemic neoplasm for which effective therapies have not yet been established. We describe a 73-year-old man with multiple nodules and patches emerging on the trunk and limbs. Lesional skin biopsy revealed a plasmacytoid dendritic cell tumor with dense dermal infiltrate of tumor cells with blastoid features. No apparent systemic involvement was identified in the initial stage. The patient was treated with prednisone daily, with notorious improvement of the skin lesions, although no complete remission was obtained. During the six-month follow-up period, no disease progression was documented, but fatal systemic progression occurred after that period of time.

Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation

Blood ◽  
2008 ◽  
Vol 112 (5) ◽  
pp. 1655-1657 ◽  
Author(s):  
Karl M. Hoffmann ◽  
Andrea Moser ◽  
Peter Lohse ◽  
Andreas Winkler ◽  
Barbara Binder ◽  
...  
Keyword(s):  
Germ Line ◽  
Systemic Mastocytosis ◽  
Therapeutic Option ◽  
Kinase Domain ◽  
Imatinib Therapy ◽  
Imatinib Treatment ◽  
Kit Mutation ◽  
Systemic Involvement ◽  
Kit Gene ◽  
Cutaneous Mastocytosis

Abstract Cutaneous mastocytosis (CM) in children is a usually benign skin disorder caused by mast cell proliferation. Progressive disease leading to systemic involvement and fatal outcomes has been described. C-kit receptor mutations have been identified as causative for CM, some of which potentially respond to imatinib treatment as described for patients with systemic mastocytosis. We report successful therapy of progressive CM with imatinib in a 23-month-old boy. KIT gene analysis revealed not only a somatic deletion of codon 419 in exon 8 (c.1255_1257delGAC) which responds to imatinib therapy, but also a novel germ line p. Ser840Asn substitution encoded by exon 18 in the c-kit kinase domain. Family history suggests this exchange does not affect receptor function or cause disease. Imatinib therapy was well tolerated, stopped symptoms and disease progression, and appeared to shorten the course of the disease. Imatinib could possibly represent a novel therapeutic option in patients with progressive CM.

scholarly journals Cutaneous Mastocytosis in a 61-year-old Female from a Dermatological and Histopathological Perspective

2020 ◽  
pp. 01-06
Author(s):  
Erisa Kola ◽  
Jorida Memini ◽  
Ina Kola ◽  
Daniela Nakuci ◽  
John Ekladous ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Mast Cell ◽  
Mast Cells ◽  
Lymph Nodes ◽  
Systemic Mastocytosis ◽  
World Health ◽  
Systemic Involvement ◽  
Cutaneous Mastocytosis ◽  
Health Organization ◽  
Cell Disorder

First described by Nettleship et al. in 1869 [1], mastocytoses are a heterogeneous group of disorders characterized by the pathologic accumulation of mast cells in various tissues [2-5]. Mastocytosis can be confined to the skin as in cutaneous mastocytosis (CM), or it can involve extracutaneous tissues such as the liver, spleen, bone marrow and lymph nodes, as in systemic mastocytosis [6]. Mastocytosis is a World Health Organization-defined clonal mast cell disorder characterized by significant clinicopathologic heterogeneity [7]. Keywords: Cutaneous mastocytosis; Systemic mastocytosis; Systemic involvement; Mast cells; Mastocytosis.

scholarly journals Hypereosinophilic dermatitis: generalised lichenification and gyrate erythema as the sole manifestation of idiopathic hypereosinophilic syndrome

2019 ◽  
Vol 12 (10) ◽  
pp. e232142
Author(s):  
Deepika Yadav ◽  
Ananya Sharma ◽  
Shipra Agarwal ◽  
Vishal Gupta
Keyword(s):  
Hypereosinophilic Syndrome ◽  
Oral Prednisolone ◽  
Bone Marrow Examination ◽  
Skin Lesions ◽  
Idiopathic Hypereosinophilic Syndrome ◽  
Systemic Involvement ◽  
Cytogenetic Studies ◽  
Atypical Cells ◽  
Peripheral Blood Eosinophilia

A 22-year-old female presented with generalised lichenification and severe pruritus, along with multiple annular papules and concentric plaques over trunk and extremities for the last 3 years. Her haematological investigations revealed leucocytosis with peripheral blood eosinophilia and raised serum IgE levels. Skin biopsy showed perivascular and interstitial infiltrate of eosinophils and lymphocytes in the dermis. Bone marrow examination showed myeloid hypercellularity with increased number of eosinophils, but no atypical cells. Cytogenetic studies did not reveal any chromosomal alterations. No systemic involvement was found on imaging. A diagnosis of idiopathic skin-limited hypereosinophilic syndrome was made. She was treated with tapering doses of oral prednisolone and weekly methotrexate with significant improvement in skin lesions and pruritus in 2 months, which was maintained at 7-month follow-up.

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 Manifestações Cutâneas nas Mastocitoses: Atualização

2020 ◽  
Vol 33 (4) ◽  
pp. 275
Author(s):  
Sandra Ferreira ◽  
Iolanda Fernandes ◽  
Renata Cabral ◽  
Susana Machado ◽  
Margarida Lima ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Systemic Mastocytosis ◽  
Adult Patients ◽  
World Health ◽  
Cutaneous Lesions ◽  
International Consensus ◽  
Cutaneous Manifestations ◽  
Systemic Involvement ◽  
Cutaneous Mastocytosis ◽  
Health Organization

Introduction: Mastocytosis is characterized by the clonal expansion of morphological and immunophenotypically abnormal mast cells in different organs. The skin is the most frequently affected tissue. Virtually all children and more than 80% of adult patients with mastocytosis show cutaneous lesions.Material and Methods: The present article describes the symptoms and signs in cutaneous mastocytosis, based on the review of recently published international consensus guidelines.Discussion: According to the 2016 World Health Organization classification, mastocytosis can be divided in cutaneous mastocytosis, systemic mastocytosis and mast cell sarcoma. Cutaneous mastocytosis is subclassified in three subtypes: maculopapular cutaneousmastocytosis, diffuse cutaneous mastocytosis and cutaneous  astocytoma. Telangiectasia macularis eruptiva perstans is no longerconsidered a distinct entity.Conclusion: Based on the age of onset, cutaneous manifestations of mastocytosis can be variable. The classification of cutaneous mastocytosis has recently been updated. Typically, in patients with childhood-onset mastocytosis, the disease occurs as cutaneous mastocytosis and shows spontaneous resolution around puberty. In contrast, adult patients, despite having also cutaneous lesions, often show systemic involvement and the course of the disease is usually chronic.

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.

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