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Leukemia Research Jul 2001The term 'mastocytosis' denotes a heterogeneous group of disorders characterized by abnormal growth and accumulation of mast cells (MC) in one or more organ systems.... (Review)
Review
The term 'mastocytosis' denotes a heterogeneous group of disorders characterized by abnormal growth and accumulation of mast cells (MC) in one or more organ systems. Over the last 20 years, there has been an evolution in accepted classification systems for this disease. In light of such developments and novel useful markers, it seems appropriate now to re-evaluate and update the classification of mastocytosis. Here, we propose criteria to delineate categories of mastocytosis together with an updated consensus classification system. In this proposal, the diagnosis cutaneous mastocytosis (CM) is based on typical clinical and histological skin lesions and absence of definitive signs (criteria) of systemic involvement. Most patients with CM are children and present with maculopapular cutaneous mastocytosis (=urticaria pigmentosa, UP). Other less frequent forms of CM are diffuse cutaneous mastocytosis (DCM) and mastocytoma of skin. Systemic mastocytosis (SM) is commonly seen in adults and defined by multifocal histological lesions in the bone marrow (affected almost invariably) or other extracutaneous organs (major criteria) together with cytological and biochemical signs (minor criteria) of systemic disease (SM-criteria). SM is further divided into the following categories: indolent systemic mastocytosis (ISM), SM with an associated clonal hematologic non-mast cell lineage disease (AHNMD), aggressive systemic mastocytosis (ASM), and mast cell leukemia (MCL). Patients with ISM usually have maculopapular skin lesions and a good prognosis. In the group with associated hematologic disease, the AHNMD should be classified according to FAB/WHO criteria. ASM is characterized by impaired organ-function due to infiltration of the bone marrow, liver, spleen, GI-tract, or skeletal system, by pathologic MC. MCL is a 'high-grade' leukemic disease defined by increased numbers of MC in bone marrow smears (>or=20%) and peripheral blood, absence of skin lesions, multiorgan failure, and a short survival. In typical cases, circulating MC amount to >or=10% of leukocytes (classical form of MCL). Mast cell sarcoma is a unifocal tumor that consists of atypical MC and shows a destructive growth without (primary) systemic involvement. This high-grade malignant MC disease has to be distinguished from a localized benign mastocytoma in either extracutaneous organs (=extracutaneous mastocytoma) or skin. Depending on the clinical course of mastocytosis and development of an AHNMD, patients can shift from one category of MC disease into another. In all categories, mediator-related symptoms may occur and may represent a serious clinical problem. All categories of mastocytosis should be distinctively separated from reactive MC hyperplasia, MC activation syndromes, and a more or less pronounced increase in MC in myelogenous malignancies other than mastocytosis. Criteria proposed in this article should be helpful in this regard.
Topics: Adult; Age of Onset; Algorithms; Biomarkers; Bone Marrow Examination; CD2 Antigens; Cell Lineage; Child; Clinical Enzyme Tests; Clone Cells; Disease Progression; Europe; Humans; Inflammation Mediators; Isoenzymes; Leukemia, Mast-Cell; Mast Cells; Mast-Cell Sarcoma; Mastocytosis; Mutation; North America; Proto-Oncogene Proteins c-kit; Receptors, Interleukin-2; Retrospective Studies; Serine Endopeptidases; Severity of Illness Index; Skin; Spleen; Staining and Labeling; Tryptases; Viscera
PubMed: 11377686
DOI: 10.1016/s0145-2126(01)00038-8 -
Allergy Jan 2019Mast cells are typically linked to immediate hypersensitivity and anaphylaxis. This review looks beyond this narrow role, focusing on how these cells have evolved and... (Review)
Review
Mast cells are typically linked to immediate hypersensitivity and anaphylaxis. This review looks beyond this narrow role, focusing on how these cells have evolved and diversified via natural selection promoting serine protease gene duplication, augmenting their innate host defense function against helminths and snake envenomation. Plasticity of mast cell genes has come at a price. Somatic activating mutations in the mast cell growth factor KIT gene cause cutaneous mastocytosis in young children and systemic mastocytosis with a more guarded prognosis in adults who may also harbor other gene mutations with oncogenic potential as they age. Allelic TPSAB1 gene duplication associated with higher basal mast cell tryptase is possibly one of the commonest autosomal dominantly inherited multi-system diseases affecting the skin, gastrointestinal tract, circulation and musculoskeletal system. Mast cells are also establishing a new-found importance in severe asthma, and in remodeling of blood vessels in cancer and atherosclerotic vascular disease. Furthermore, recent evidence suggests that mast cells sense changes in oxygen tension, particularly in neonates, and that subsequent degranulation may contribute to common lung, eye, and brain diseases of prematurity classically associated with hypoxic insults. One hundred and forty years since Paul Ehrlich's initial description of "mastzellen," this review collates and highlights the complex and diverse roles that mast cells play in health and disease.
Topics: Adolescent; Adult; Child; Child, Preschool; Disease Progression; Humans; Infant; Infant, Newborn; Mast Cells; Mastocytoma; Mastocytosis; Mastocytosis, Systemic; Mutation; Tryptases; Young Adult
PubMed: 30390314
DOI: 10.1111/all.13657 -
Allergy Jun 2024
PubMed: 38850228
DOI: 10.1111/all.16185 -
Pathologia Veterinaria 1970
Topics: Animals; Female; Mast-Cell Sarcoma; Microscopy, Electron; Skin Neoplasms; Swine; Swine Diseases
PubMed: 4998946
DOI: 10.1177/030098587000700405 -
Annals of Allergy Sep 1994The information presented will aid the practicing allergist in the recognition and management of pediatric-onset mastocytosis. (Review)
Review
OBJECTIVE
The information presented will aid the practicing allergist in the recognition and management of pediatric-onset mastocytosis.
DATA SOURCES
Index Medicus from 1985 to present with keywords: mastocytosis; pediatrics; cutaneous. Limited to English language and to human disease.
STUDY SELECTION
Information relative to mastocytosis in the pediatric age group to adulthood was reviewed.
RESULTS
Mastocytosis in children is an uncommon disease and is characterized by mast cell hyperplasia and release of mast cell mediators, particularly in the skin. It generally presents during the first 2 years of life. The most common manifestation is a solitary mastocytoma, with urticaria pigmentosa being the next most frequent manifestation. The most common initial presenting symptom of pediatric mastocytosis is pruritus. Complications of severe mastocytosis include formation of bullae and gastrointestinal bleeding attributed to high levels of circulating plasma histamine, which in turn stimulates gastric acid secretion.
CONCLUSION
Treatment of pediatric mastocytosis is largely symptomatic. Prognosis seems to be somewhat related to the severity of the disease, with children with less extensive skin involvement tending to have the best chance to have resolution of the disease by adulthood.
Topics: Adolescent; Child; Child, Preschool; Humans; Mastocytosis
PubMed: 8092552
DOI: No ID Found -
Acta Paediatrica Scandinavica Sep 1970
Topics: Blood Coagulation Tests; Female; Foot; Forearm; Histamine; Humans; Hydroxyindoleacetic Acid; Infant; Male; Mast-Cell Sarcoma; Skin Neoplasms; Thigh
PubMed: 4989496
DOI: 10.1111/j.1651-2227.1970.tb16808.x -
Actas Dermo-sifiliograficas 2016Mastocytosis is a term used to describe a heterogeneous group of disorders characterized by clonal proliferation of mast cells in various organs. The organ most often... (Review)
Review
Mastocytosis is a term used to describe a heterogeneous group of disorders characterized by clonal proliferation of mast cells in various organs. The organ most often affected is the skin. Mastocytosis is a relatively rare disorder that affects both sexes equally. It can occur at any age, although it tends to appear in the first decade of life, or later, between the second and fifth decades. Our understanding of the pathophysiology of mastocytosis has improved greatly in recent years, with the discovery that somatic c-kit mutations and aberrant immunophenotypic features have an important role. The clinical manifestations of mastocytosis are diverse, and skin lesions are the key to diagnosis in most patients.
Topics: Female; Humans; Male; Mast Cells; Mastocytosis; Proto-Oncogene Proteins c-kit; Skin
PubMed: 26546030
DOI: 10.1016/j.ad.2015.09.007 -
Arerugi = [Allergy] 2022Cutaneous mastocytosis (CM) usually appears in childhood and improves substantially before adolescence. The c-KIT mutation of D816V is present in 36% and 20% of patients... (Review)
Review
Cutaneous mastocytosis (CM) usually appears in childhood and improves substantially before adolescence. The c-KIT mutation of D816V is present in 36% and 20% of patients with childhood-onset CM and diffuse cutaneous mastocytosis (DCM), respectively. In some cases of childhood-onset DCM, the disease can progress to systemic mastocytosis; in others, it resolves spontaneously. Thus, assessing the prognosis is difficult. Herein, we described a case of DCM in an 11-month-old, male patient without a c-KIT mutation. The patient presented with dark brown macules and sporadic erythema topped by bullous lesions. A skin biopsy of the macule on the abdomen revealed accumulation of mast cells which were round to oval-shaped with amphophilic cytoplasm within the upper dermis. The patient had received H1 inhibitor until age 3 years and continued to experience blisters on the trunk. However, no severe symptoms, such as anaphylaxis, occurred. Included in this manuscript is a review of previous reports of childhood-onset DCM in Japan and cases specifically seen at our dermatology clinic.
Topics: Adolescent; Child, Preschool; Humans; Infant; Male; Mast Cells; Mastocytosis, Cutaneous; Prognosis; Proto-Oncogene Proteins c-kit; Skin
PubMed: 35831165
DOI: 10.15036/arerugi.71.397 -
The Cornell Veterinarian Jan 1978This report provides a general overview of the pathobiology of neoplasia, and an update on the clinicopathological manifestations of lymphosarcoma, mastocytoma,... (Review)
Review
This report provides a general overview of the pathobiology of neoplasia, and an update on the clinicopathological manifestations of lymphosarcoma, mastocytoma, histiocytoma, melanoma, sarcoid and circumanal gland tumors in domestic animals. Neoplasia represents a continuum of events from reversible hyperplasia to irreversible and pathological changes in tissue growth patterns. In some instances the causes of this disease process have been identified, but the etiology of the majority of naturally occurring neoplasms remain unknown. Surgical excision is the preferred treatment for tumors, but is often more beneficial when combined with chemotherapy, radiotherapy or immunotherapy. The successful diagnosis and management of neoplastic disease in domestic animals necessitates a thorough awareness of the clinical presentation and biologic behavior of specific tumors on the part of veterinarians who provide health care for these species.
Topics: Anal Gland Neoplasms; Animals; Animals, Domestic; Cat Diseases; Cats; Cattle; Cattle Diseases; Dog Diseases; Dogs; Histiocytoma, Benign Fibrous; Horse Diseases; Horses; Lymphoma, Non-Hodgkin; Mast-Cell Sarcoma; Melanoma; Neoplasms; Skin Neoplasms
PubMed: 204450
DOI: No ID Found -
Clinics in Dermatology 2011Dermatologists are called on to diagnose a variety of skin conditions in diverse age groups. Dermatologic diagnosis, based on identification of a primary lesion, uses... (Review)
Review
Dermatologists are called on to diagnose a variety of skin conditions in diverse age groups. Dermatologic diagnosis, based on identification of a primary lesion, uses morphologic clues to categorize the pathologic process causing the eruption. In addition, distribution and grouping of lesions helps support a specific diagnosis. Dermatologists consciously or unconsciously use pattern recognition to arrive at their differential diagnosis based on clinical experience and their having previously viewed similarly appearing skin lesions in lectures, texts, and journals. Round and discoid patches and plaques are extremely common in the clinical practice of dermatology. This contribution reviews the dermatologic conditions that present as round or discoid lesions and presents an approach to diagnosis.
Topics: Cellulitis; Dermatitis, Atopic; Diagnosis, Differential; Eosinophilia; Female; Granuloma Annulare; Humans; Lichen Planus; Lupus Erythematosus, Discoid; Mastocytoma; Mucinosis, Follicular; Mycosis Fungoides; Necrobiosis Lipoidica; Pigmentation Disorders; Pityriasis; Sarcoidosis; Skin Neoplasms; Sweet Syndrome
PubMed: 21855723
DOI: 10.1016/j.clindermatol.2010.09.016