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Actas Dermo-sifiliograficas 2016Mastocytosis is a term used to describe a heterogeneous group of disorders characterized by clonal proliferation of mast cells in different 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 different organs. The organ most often affected is the skin. The World Health Organization classifies cutaneous mastocytosis into mastocytoma, maculopapular cutaneous mastocytosis, and diffuse mastocytosis. The systemic variants in this classification are as follows: indolent systemic mastocytosis (SM), aggressive SM, SM with an associated clonal hematological non-mast cell lineage disease, mast cell leukemia, mast cell sarcoma, and extracutaneous mastocytoma. The two latest systemic variants are rare. Although the course of disease is unpredictable in children, lesions generally resolve by early adulthood. In adults, however, the disease tends to persist. The goal of treatment should be to control clinical manifestations caused by the release of mast cell mediators and, in more aggressive forms of the disease, to reduce mast cell burden.
Topics: Humans; Leukemia, Mast-Cell; Mast Cells; Mast-Cell Sarcoma; Mastocytosis; Mastocytosis, Cutaneous; Mastocytosis, Systemic; Prognosis
PubMed: 26525106
DOI: 10.1016/j.ad.2015.09.009 -
Current Pediatric Reviews 2019The diagnosis of solitary cutaneous mastocytoma is mainly clinical, based on lesion morphology, the presence of a positive Darier sign, and the absence of systemic... (Review)
Review
BACKGROUND
The diagnosis of solitary cutaneous mastocytoma is mainly clinical, based on lesion morphology, the presence of a positive Darier sign, and the absence of systemic involvement. Knowledge of this condition is important so that an accurate diagnosis can be made.
OBJECTIVE
To familiarize physicians with the clinical manifestations, diagnosis, evaluation, and management of a solitary cutaneous mastocytoma.
METHODS
A PubMed search was completed in Clinical Queries using the key term "solitary cutaneous mastocytoma". The search strategy included meta-analyses, randomized controlled trials, clinical trials, observational studies, and reviews. Only papers published in English language were included. The information retrieved from the above search was used in the compilation of the present article.
RESULTS
Typically, a solitary cutaneous mastocytoma presents as an indurated, erythematous, yellow- brown or reddish-brown macule, papule, plaque or nodule, usually measuring up to 5 cm in diameter. The lesion often has a peau d'orange appearance and a leathery or rubbery consistency. A solitary cutaneous mastocytoma may urticate spontaneously or when stroked or rubbed (Darier sign). Organomegaly and lymphadenopathy are characteristically absent. The majority of patients with skin lesions that erupt within the first two years of life have spontaneous resolution of the lesions before puberty. Treatment is mainly symptomatic. Reassurance and avoidance of triggering factors suffice in most cases.
CONCLUSION
The diagnosis is mainly clinical, based on the morphology of the lesion, the presence of a positive Darier sign, and the absence of systemic involvement. A skin biopsy is usually not necessary unless the diagnosis is in doubt.
Topics: Child; Diagnosis, Differential; Humans; Mastocytoma, Skin; Skin; Skin Neoplasms
PubMed: 30465511
DOI: 10.2174/1573396315666181120163952 -
Case Reports in Pathology 2014Solitary mastocytoma of the skin is a rare tumor. Its occurrence in the vulva is extremely rare with only few case reports in the literature. We report a solitary...
Solitary mastocytoma of the skin is a rare tumor. Its occurrence in the vulva is extremely rare with only few case reports in the literature. We report a solitary mastocytoma of the vulva in a 10-year-old girl. Her systemic examination was unremarkable. The clinical and histopathological features were consistent with the diagnosis of solitary mastocytoma of the vulva. The follow-up after surgical excision was uneventful. The purpose of this communication is (i) to report a case of solitary mastocytoma occurring in an unusual site, the vulva and to show that (ii) in this case age at presentation is 10 years with infancy as common age of presentation of solitary mastocytoma, and to show that (iii) in appropriate setting this should be included in the differential diagnosis of vulval swelling.
PubMed: 24800094
DOI: 10.1155/2014/412656 -
Archives of Craniofacial Surgery Jun 2018Mastocytosis is a rare disease which occurs in both children and adults, and it can manifest as a solitary or multiple skin lesions. Both can cause cutaneous or systemic...
Mastocytosis is a rare disease which occurs in both children and adults, and it can manifest as a solitary or multiple skin lesions. Both can cause cutaneous or systemic symptoms. Because of the heterogeneity of clinical presentation of mastocytosis and its rare prevalence, it can be hard to suspect the mastocytosis at the first time. Most solitary mastocytomas are about 1-5 cm in diameter and have features of brownish-yellow, minimally elevated plaques with a smooth shiny surface. This article presents a case of solitary mastocytoma which occurred in neonate and that we treated through surgical excision. In histopathological examination, it consisted of c-kit-positive mast cells. Although pediatric cutaneous mastocytosis might regress spontaneously, clinicians should keep in mind that it could be associated with systemic mastocytosis which involves hematopoietic system.
PubMed: 29716178
DOI: 10.7181/acfs.2018.01508 -
Dermatology Practical & Conceptual Jul 2016Mastocytosis is either cutaneous (with skin-limited proliferation of mast cells) or systemic (with mast cells in extracutaneous sites). The onset of solitary mastocytoma... (Review)
Review
BACKGROUND
Mastocytosis is either cutaneous (with skin-limited proliferation of mast cells) or systemic (with mast cells in extracutaneous sites). The onset of solitary mastocytoma in an adult is rare.
PURPOSE
A woman with the new onset of solitary mastocytoma is described. The clinical features of patients with adult-onset solitary mastocytoma are summarized. Recommendations for the evaluation and treatment of individuals with adult-onset solitary mastocytoma are proposed.
METHODS
PubMed was searched with the key words: adult, CD2, CD25, cell, cutaneous, disease, KIT, KIT D816V, mast, mastocytoma, mutation, pigmentosa, solitary, tryptase, and urticarial. The papers generated by the search, and their references, were reviewed.
RESULTS
A 38-year-old Taiwanese woman presented with an asymptomatic brown patch, which morphologically mimicked a dysplastic nevus, on her right abdomen; biopsy demonstrated a solitary mastocytoma. Comprehensive evaluation (including serologic and bone marrow examination) excluded systemic mastocytosis and her residual mastocytoma is being monitored. Adult-onset solitary mastocytoma has been described in 16 patients. Lesions were either on the head and neck (5/14), torso (5/14) or extremities (4/14). Urtication following lesion rubbing was noted in 79% (11/14) of patients. Excision of the mastocytoma [75% (9/12)] was the most common treatment. Other management approaches included corticosteroids (topical or intralesional), antihistamines (systemic) or observation. Systemic symptoms were noted in 5 patients: flushing (3 women) and pruritus (3 women); gastrointestinal symptoms and headaches, flushing and/or anaphylaxis were each noted in one woman. None of the patients with adult-onset solitary mastocytoma had systemic mastocytosis; however, only 3 women were evaluated for systemic mastocytosis.
CONCLUSIONS
Systemic mastocytosis is common in adults with new onset cutaneous mastocytosis. Therefore, a conservative work up for new onset solitary mastocytosis in adults is proposed to include complete blood cell counts, serum chemistries (including liver function tests), and serum tryptase level and bone marrow biopsy to evaluate for mast cell clusters, morphology and immunophenotype and KIT gene mutation in codon 816. Similar serologic testing should be considered annually for adult-onset solitary mastocytosis patients without systemic disease.
PubMed: 27648381
DOI: 10.5826/dpc.0603a07 -
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 -
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 -
The Journal of Investigative Dermatology Mar 1991The most frequent site of organ involvement in patients with any form of mastocytosis is the skin. Cutaneous expressions include urticaria pigmentosa, mastocytoma,... (Review)
Review
The most frequent site of organ involvement in patients with any form of mastocytosis is the skin. Cutaneous expressions include urticaria pigmentosa, mastocytoma, diffuse and erythrodermic cutaneous mastocytosis, and telangiectasia macularis eruptiva perstans. The cutaneous lesions tend to appear early in life. Although urticaria pigmentosa has been reported in 12 pairs of twins and one set of triplets, the majority of affected individuals have no familial association. Most patients with systemic mastocytosis have skin lesions; however, an occasional patient will have systemic disease with no other skin features than flushing. In lesional cutaneous sites and in non-lesional skin, there is an increase in the number of mast cells. Electron microscopy shows quantitative differences between lesional skin mast cells from patients with and without systemic disease. The mast cells from adult patients with systemic disease have a larger mean cytoplasmic area, nuclear size, and granule diameter. The granules contain predominantly grating/lattice structures. The cutaneous mast cells contain tryptase and chymase. They retain their functional reactivities to relevant secretory stimuli, such as C3a, morphine sulfate, and calcium ionophore A23187. Lesional skin contains histamine, leukotriene B4, prostaglandin D2, 5-hydroxyeicosatetraenoic acid, platelet-activating factor, and heparin. Treatment of the cutaneous manifestations includes the use of H1 and H2 antihistamines, oral disodium cromoglycate, psoralens plus ultraviolet A photochemotherapy, and potent topical corticosteroid preparations.
Topics: Dermatitis, Exfoliative; Humans; Mastocytoma; Mastocytosis, Cutaneous; Skin; Telangiectasis; Urticaria Pigmentosa
PubMed: 16799606
DOI: 10.1111/1523-1747.ep12468973 -
Veterinary and Comparative Oncology Mar 2019In humans, advanced mast cell (MC) neoplasms are rare malignancies with a poor prognosis. Only a few preclinical models are available, and current treatment options are... (Review)
Review
In humans, advanced mast cell (MC) neoplasms are rare malignancies with a poor prognosis. Only a few preclinical models are available, and current treatment options are limited. In dogs, MC neoplasms are the most frequent malignant skin tumours. Unlike low-grade MC neoplasms, high-grade MC disorders usually have a poor prognosis with short survival. In both species, neoplastic MCs display activating KIT mutations, which are considered to contribute to disease evolution. Therefore, tyrosine kinase inhibitors against KIT have been developed. Unfortunately, clinical responses are unpredictable and often transient, which remains a clinical challenge in both species. Therefore, current efforts focus on the development of new improved treatment strategies. The field of comparative oncology may assist in these efforts and accelerate human and canine research regarding diagnosis, prognostication, and novel therapies. In this article, we review the current status of comparative oncology approaches and perspectives in the field of MC neoplasms.
Topics: Animals; Antineoplastic Agents; Dog Diseases; Dogs; Humans; Mastocytoma; Species Specificity
PubMed: 30136349
DOI: 10.1111/vco.12440 -
Journal of Clinical Medicine Aug 2022The term mastocytosis refers to a heterogeneous group of disorders characterised by accumulation of clonal mast cells in different organs, most commonly in the skin.... (Review)
Review
The term mastocytosis refers to a heterogeneous group of disorders characterised by accumulation of clonal mast cells in different organs, most commonly in the skin. Little is known about the role of dermoscopy in the diagnostics of mastocytosis. To date, no systematic review on the dermoscopic features of cutaneous mastocytosis has been performed. The aim of this study was to summarise the current knowledge in the field as well as to identify the knowledge gaps to show possible directions for further studies, based on a systematic search of PubMed, Scopus, and Web of Science databases and related references published before 3 January 2022. Dermoscopic features, type of dermoscope, polarisation mode, magnification, and number of cases were analysed. In total, 16 articles were included in this review (3 case series and 13 case reports), analysing 148 patients with different variants of cutaneous mastocytosis; all of the studies analysed had a low level of evidence (V). The main dermoscopic features of urticaria pigmentosa included brown structureless areas, brown lines arranged in a network, and linear vessels distributed in a reticular pattern, with this last finding also being typical of telangiectasia macularis eruptiva perstans. The presence of either circumscribed yellow structureless areas or diffuse yellowish background was a constant pattern of mastocytoma, while nodular, pseudoangiomatous xanthelasmoid, and plaque-type mastocytosis were typified by light-brown structureless areas and/or pigment network, though the first two variants also showed yellow/yellow-orange structureless areas. Finally, pigmented streaks of radial distribution surrounding hair follicles were described to be a pathognomonic dermoscopic feature of pseudoxanthomatous mastocytosis. Although this review shows that the various clinical forms of cutaneous mastocytosis may feature diagnostic dermoscopic clues, it also underlines the need for further investigation as several relevant data are missing, including evaluation of dermoscopic pattern according to anatomical locations or "lesion age", studies on rare mastocytosis variants, evaluation of the prognostic role of dermoscopy in the context of systemic involvement, and comparative analyses with common clinical mimickers.
PubMed: 36012900
DOI: 10.3390/jcm11164649