Mastocitose cutânea é um termo que se refere a um grupo de doenças caracterizadas pelo acúmulo e proliferação anormais de mastócitos na pele. Em alguns casos (mais comumente em adultos), a mastocitose cutânea pode ocorrer em associação com infiltração de mastócitos em vários órgãos extracutâneos, caso em que o distúrbio é denominado mastocitose sistêmica.
Introdução
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Mastocitose cutânea é um termo que se refere a um grupo de doenças caracterizadas pelo acúmulo e proliferação anormais de mastócitos na pele. Em alguns casos (mais comumente em adultos), a mastocitose cutânea pode ocorrer em associação com infiltração de mastócitos em vários órgãos extracutâneos, caso em que o distúrbio é denominado mastocitose sistêmica.
Escala de raridade
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1/20kRara
1/10kPouco freq.
1/5kIncomum
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 25 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 54 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Not applicable.
Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulator
Cell membraneCytoplasm
Piebald trait
Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.
Variantes genéticas (ClinVar)
342 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 42 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
22 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
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Remédios, cuidados de apoio e o que precisa acompanhar
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Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
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Publicações mais relevantes
Molecular characterization of pediatric mastocytosis revealed different somatic mutations with uncertain prognostic value.
Mastocytosis is a rare clonal hematological neoplasm, characterized by cutaneous manifestations in children and categorized as: maculopapular cutaneous mastocytosis (MPCM), diffuse cutaneous mastocytosis (DCM) and mastocytoma. Systemic mastocytosis (SM) typically occurs in adults with c-KIT D816V mutation. Additional genetic mutations (TET2, NRAS, SF3B1, ASXL1, etc.) have been detected using Next-Generation Sequencing (NGS) in the adult population while limited information is available in the pediatric setting. 36 patients (pts) with pediatric mastocytosis diagnosed between 1997 and 2021 were included. Peripheral blood samples were collected to detect c-KIT D816V mutation, using both RT-PCR and ddPCR techniques, and to investigate other molecular mutations using NGS panel for rare and myeloid genes. Median age of lesion onset was 4.7 months (range birth-17.8 years). 58% of the cohort underwent cutaneous biopsy after a median 3.77 months from lesion onset (range 2.49 months-11.6 years). 20 (55%) were classified as MPCM, 10 (28%) as DCM and 6 (17%) as mastocytoma. Median tryptase value at the onset was 5 ng/mL: MPCM (range 1.2-141 ng/mL) vs. DCM (range 2.71-19.4 ng/mL) vs. mastocytoma (range 3.8-7.3 ng/mL). Two MPCM pts developed indolent SM (ISM) after 10 and 20 years from the onset of disease. RT-PCR identified c-KIT D816V mutation in 4 pts (2 MPCM, 1 DCM, 1 ISM). NGS revealed the precedent mutation in 3 pts, c-KIT D816Y and c-KIT Y553C in 2 pts. An additional 10 myeloid gene mutations were detected by NGS: 5 already known (ASXL1 G1397S; JAK2 L393V; c-KIT D816Y; LNK E208Q; TET2 Y867H) and 5 not previously described (ETV6 A215P; c-KIT Y553C; NFE2 I291T; SH2B3 G382D; SH2B3 L438V). A single mutation was found in 7 pts (3 MPCM, 3 DCM, 1 ISM), while two or more mutations in 3 DCM pts. Overall, 9/36 pts (5 DCM, 3 MPCM, 1 mastocytoma) presented spontaneous complete regression of cutaneous lesions after a median time of 25 months (range 17 months-25 years). c-KIT mutations resulted in 35% of the children tested. The RT-PCR technique resulted more sensitive in finding c-KIT D816V, while NGS in detecting other mutations whose prognostic roles require further investigation.
Soluble FcεRI is increased in advanced mastocytosis and acts as a negative regulator of mast cell expansion and activation.
The soluble alpha chain of FcεRI (sFcεRI) is released during receptor cross-linking on mast cells (MCs) and serves as an acceptor site for circulating IgE. Recent data suggest that sFcεRI counteracts MC activation in allergic patients. We measured the levels of sFcεRI and its effect in cutaneous mastocytosis and systemic mastocytosis (SM). sFcεRI levels were quantified by ELISA in 114 patients with mastocytosis, including cutaneous mastocytosis (n = 12), indolent SM (n = 67), smoldering SM (n = 5), SM with associated hematologic neoplasm (n = 17), aggressive SM (n = 9), and MC leukemia (n = 4). We measured sFcεRI levels at diagnosis and during follow-up and established correlations with the SM variant, prognostic parameters, and survival. Moreover, we assessed sFcεRI effects on proliferation of neoplastic MCs and IgE-dependent activation and histamine release in basophils obtained from SM patients. Compared to healthy controls, sFcεRI levels were within normal range in most patients with cutaneous mastocytosis and indolent SM, whereas in most patients with advanced SM, especially those with aggressive SM, increased sFcεRI levels were detected. Moreover, we found that a clearly elevated sFcεRI level in SM correlates with poor survival and a lower risk of vascular instability. sFcεRI levels did not correlate with serum tryptase levels, total IgE levels, or the presence of hereditary α-tryptasemia. In in vitro experiments, sFcεRI suppressed anti-IgE-induced CD63 expression and histamine release in basophils and growth of neoplastic MCs. sFcεRI is often elevated in patients with advanced SM and acts as negative regulator of growth and activation of neoplastic MCs.
Avapritinib improves cutaneous involvement in patients with indolent systemic mastocytosis: Results from the randomized, phase 2, interventional PIONEER study.
Indolent systemic mastocytosis (ISM), a clonal mast cell disease driven by the KIT D816V mutation, can often cause debilitating dermatologic symptoms. Assess improvement of ISM-related skin manifestations after treatment with avapritinib, a highly selective KIT D816V inhibitor, vs placebo in Part 2 of the PIONEER study (NCT03731260). Patients with moderate-to-severe ISM received avapritinib 25 mg once daily (n=141) or placebo (n=71). Endpoints included skin lesion area and pigmentation at week 24, skin mast cell burden, and change in symptoms. Mean percent reduction in lesional surface area was -36.6% with avapritinib vs -1.8% with placebo in the most affected area; 86% vs 0% had improved skin lesion color. Mean percent change in skin mast cell burden decreased with avapritinib (-22.1%) vs placebo (10.1%). Avapritinib vs placebo significantly improved skin symptom domain score (mean change -7.2 vs -2.8; p<.0001), including the individual skin symptoms itching, flushing, and spots. Avapritinib was well tolerated. Photography was optional, so analysis population for lesion area and color were smaller (n=111) than the overall study population (n=212). Avapritinib treatment improved dermatologic symptoms, decreased skin lesion size, normalized skin lesion color, and reduced skin mast cell burden in patients with ISM.
ISM-1 expression in cutaneous mastocytosis: Diagnostic potential and comparison with CD117.
Isthmin-1 (ISM-1) is a multifunctional secreted protein expressed in various tissues, exhibiting biological activities that overlap with mast cell functions. To date, no study has demonstrated its expression in mast cells. This study presents the first evidence of ISM-1 immunoreactivity in mast cells and investigates its diagnostic relevance in cutaneous mastocytosis. Thirty-nine patients diagnosed with cutaneous mastocytosis from 2 tertiary centers were retrospectively evaluated. Formalin-fixed paraffin-embedded skin biopsy specimens were immunohistochemically stained using antibodies against ISM-1 and CD117. Expression levels were semiquantitatively scored, and associations with clinical, histopathological, and demographic variables were statistically analyzed. All cases exhibited ISM-1 positivity, with 69.2% demonstrating high expression. Notably, ISM-1 remained highly expressed in 2 cases with low CD117 immunoreactivity. While ISM-1 showed diagnostic sensitivity and specificity comparable to CD117, its distinct nuclear localization provided enhanced morphological clarity for mast cell identification. Cases with high ISM-1 expression showed increased eosinophil counts; however, this trend did not reach statistical significance. These findings suggest that ISM-1 may serve as a complementary immunohistochemical marker for mast cell detection, particularly in diagnostically challenging cases. Moreover, its nuclear staining introduces a novel morphological feature that may improve histopathological assessment of mastocytosis and warrants further investigation in mast cell-associated disorders.
Comparative Analysis of Pediatric and Adult Mastocytosis: Clinical Presentation, Triggers, and Treatment Patterns from a Tertiary Care Registry.
Background: Mastocytosis is a rare hematologic disorder, classified into cutaneous mastocytosis (CM) and systemic mastocytosis (SM). Understanding age-related differences in presentation and management is essential for individualized care. Methods: Data from patients recruited from the Montreal Children's and Montreal General Hospitals between 2015 and 2024 were analyzed. Descriptive statistics were employed to present patient demographics, clinical characteristics, and medication usage. Statistical analyses included Fisher's exact test for categorical variables and t-tests or non-parametric equivalents for continuous variables. Results: A total of 63 patients were included, comprising 39 children and 24 adults. Children had a median age of 1.9 years, while adults had a median age of 49.3 years. CM was exclusively prevalent in children (100.0%), while SM was more common in adults (45.8%). Adults with SM had a significantly higher median age than CM (49.4 versus 44.7 years, respectively, p = 0.03). Epinephrine use was more frequent in adult SM patients (36.4% versus 0%, respectively, p = 0.03). No pediatric patients required epinephrine for symptom control. Conclusions: This study highlights important clinical differences between pediatric and adult mastocytosis. CM was more common in children while SM predominated in adults and was associated with greater flare severity and higher tryptase levels.
Publicações recentes
A successful treatment of urticaria pigmentosa with omalizumab in a pediatric patient: a case report.
Reconsidering cytoreductive therapy in high-risk pediatric mastocytosis: From diffuse cutaneous to smoldering systemic disease.
Molecular characterization of pediatric mastocytosis revealed different somatic mutations with uncertain prognostic value.
Unexplained Syncope in Mastocytosis: The Role of Early Dermatological Recognition.
Soluble FcεRI is increased in advanced mastocytosis and acts as a negative regulator of mast cell expansion and activation.
📚 EuropePMC357 artigos no totalmostrando 196
Molecular characterization of pediatric mastocytosis revealed different somatic mutations with uncertain prognostic value.
Frontiers in cell and developmental biologyUnexplained Syncope in Mastocytosis: The Role of Early Dermatological Recognition.
Acta dermatovenerologica Croatica : ADCSoluble FcεRI is increased in advanced mastocytosis and acts as a negative regulator of mast cell expansion and activation.
The Journal of allergy and clinical immunologyAvapritinib improves cutaneous involvement in patients with indolent systemic mastocytosis: Results from the randomized, phase 2, interventional PIONEER study.
Journal of the American Academy of DermatologyISM-1 expression in cutaneous mastocytosis: Diagnostic potential and comparison with CD117.
MedicineJournal Club: Mastocytosis: across the spectrum: pathobiology, clinical evaluation, and evolving therapies.
European journal of dermatology : EJDComparative Analysis of Pediatric and Adult Mastocytosis: Clinical Presentation, Triggers, and Treatment Patterns from a Tertiary Care Registry.
Children (Basel, Switzerland)Adult-onset cutaneous mastocytosis presenting as vulvar papules.
American journal of obstetrics and gynecologyKey Pediatric Dermatologic Conditions: A Clinical Review: Part I.
Pediatric annalsMastocytosis: Imaging Spectrum and Diagnostic Insights.
Radiographics : a review publication of the Radiological Society of North America, IncDenosumab as a Potential Disease-Modifying Treatment in Indolent Systemic Mastocytosis-Related Osteoporosis.
JCEM case reportsManagement of Mastocytosis and Mast Cell Activation in Children.
The journal of allergy and clinical immunology. In practiceDiffuse Cutaneous Mastocytosis with Bullous Presentation: A Rare Case Report.
Indian journal of dermatologyChallenges in Cutaneous Mastocytosis.
Immunology and allergy clinics of North AmericaBurden of childhood cutaneous mastocytosis: Severity and caregivers' quality of life.
The journal of allergy and clinical immunology. In practiceOmalizumab for Pediatric Cutaneous Mastocytosis: Case Report and Review.
Pediatric dermatologyFrench guidelines for the management of nonadvanced mastocytosis in adults.
Orphanet journal of rare diseasesUncommon Presentation of Mastocytosis: Focus on the Xanthelasmoid Variant.
CureusAvapritinib reduces symptoms and mast cell burden in systemic mastocytosis.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyUnderstanding Cutaneous Mastocytosis: A Case Report on the Symptoms and Diagnosis of a Rare Disease.
CureusDiagnosis, management and the burden of symptoms of mastocytosis from the physician's perspective: A nationwide study.
British journal of haematologyReal-world characteristics of systemic mastocytosis in Romania: insights from a reference-center-based descriptive study.
Journal of medicine and lifeHereditary α-Tryptasemia and Peripheral Blood KIT D816V Mutation in Patients with Pediatric Mastocytosis.
International journal of molecular sciencesThe Use of Biologic Therapeutic Regimens in Cutaneous and Systemic Mastocytosis: A Scoping Review.
Journal of drugs in dermatology : JDDIdiopathic cutaneous Mastocytosis mimicking infantile psoriasis in a six-month-old male: a rare presentation.
Oxford medical case reportsIndolent Mastocytosis and Bone Health: Molecular Mechanisms and Emerging Treatment Options.
International journal of molecular sciencesTelangiectasia Macularis Eruptiva Perstans Following Radiotherapy: Atypical Presentation of a Rare Condition.
CureusMastocytosis: Part II: Diagnosis and Management of Mastocytosis through a Multidisciplinary Lens.
Journal of the American Academy of DermatologyMastocytosis: Part I: Pathogenesis, Clinical Presentation and Classification.
Journal of the American Academy of DermatologyPrevalence of myeloid gene alterations in paediatric cutaneous and systemic mastocytosis.
British journal of haematologyTelangiectatic Mastocytosis: If It Is Not Mastocytosis, What Is It? Comment on Brockow et al. Challenges in the Diagnosis of Cutaneous Mastocytosis. Diagnostics 2024, 14, 161.
Diagnostics (Basel, Switzerland)Laser Therapy for Cutaneous Mastocytosis: A Systematic Review.
Journal of cutaneous medicine and surgeryCharacteristics and Therapeutic Strategies for Diffuse Cutaneous Mastocytosis.
JAMA dermatologyCutaneous mastocytosis: diagnostic challenges and dietary influences.
Dermatology reportsMastocytosis in the Skin: Approach to Diagnosis, Evaluation, and Management in Adult and Pediatric Patients.
American journal of clinical dermatologyRapid clinical response to nemolizumab in dermatologic diseases associated with pruritus and burning: A multicenter case series.
Journal of the American Academy of DermatologyNodular cutaneous mastocytosis combined with chronic myelomonocytic leukaemia: a case report.
European journal of dermatology : EJDPediatric Cutaneous Mastocytosis Mistaken for Non-accidental Ecchymoses: A Systematic Review.
Journal of cutaneous medicine and surgeryA rare case of pediatric cutaneous bullous mastocytosis.
JAAD case reportsConfirmed Systemic Mastocytosis in a Pediatric Patient With Widespread Cutaneous Symptoms.
PediatricsCutaneous Mastocytosis in Pediatric Patients With Skin of Color: A Retrospective Cohort Study.
Pediatric dermatologyEruptive Syringoma-Clinical, Dermoscopic, and Reflectance Confocal Microscopy Features.
Diagnostics (Basel, Switzerland)Exploring Pediatric Dermatology in Skin of Color: Focus on Dermoscopy.
Life (Basel, Switzerland)Evaluation of allergic diseases in children diagnosed with cutaneous mastocytosis.
Allergy and asthma proceedingsRecalcitrant Pustular Dermatosis Successfully Treated With Prolonged Isotretinoin Therapy.
CureusMast cell sarcoma with KIT p.D816V mutation and concurrent systemic mastocytosis.
Journal of hematopathologyRecurrent prosthetic mitral valve thrombosis: First report of an unusual feature of systemic mastocytosis, a case report and review of the literature.
Caspian journal of internal medicineOcular and palpebral manifestations of mastocytosis: A prospective single-center study.
Annales de dermatologie et de venereologieDemographics, Types of Patient-Reported Allergic Diseases, and Anaphylaxis in Mastocytosis: A Single-Center US Experience.
The journal of allergy and clinical immunology. In practiceQuantifying Mast Cell and Eosinophil Cellular Density in Skin Biopsy Tissue From Adults With Maculopapular Cutaneous Mastocytosis as Compared With Urticaria and Normal Skin: A Retrospective Histopathologic Study.
The American Journal of dermatopathologyIndolent systemic mastocytosis (ISM) without skin lesions as a recurrent anaphylaxis: a case report study.
Annals of medicine and surgery (2012)Disseminated cutaneous mastocytosis.
Archives of disease in childhoodHarmonization of Diagnostic Criteria in Mastocytosis for Use in Clinical Practice: WHO vs ICC vs AIM/ECNM.
The journal of allergy and clinical immunology. In practiceMast Cell Disorders and Hymenoptera Venom-Triggered Anaphylaxis: Evaluation and Management.
The journal of allergy and clinical immunology. In practiceRadiation-associated cutaneous mastocytosis: a case report and review of the literature.
Acta oncologica (Stockholm, Sweden)Subcellular expression of CD30 in cutaneous mastocytosis-An important factor for targeted treatment.
Journal of cutaneous pathologyA comparison of mast cells in skin biopsies of cutaneous mastocytosis with other inflammatory dermatoses: A study of 33 cases.
Journal of cutaneous pathologyPrevalence and impact of the KIT M541L variant in patients with mastocytosis.
OncotargetHigh-frequency ultrasonography: one of the modern imaging diagnostic methods in dermatology. Authors' own experience and review.
Postepy dermatologii i alergologiiPlasma Protein Profiling to Discern Indolent from Advanced Systemic Mastocytosis.
The Journal of molecular diagnostics : JMDClinical spectrum of patients diagnosed with childhood mastocytosis: a retrospective single center experience.
European annals of allergy and clinical immunologyNCCN Guidelines® Insights: Systemic Mastocytosis, Version 3.2024.
Journal of the National Comprehensive Cancer Network : JNCCNTelangiectasia Macularis Eruptiva Perstans in a 55-Year-Old Female With Type 2 Diabetes Mellitus.
CureusPrevalence of hypersensitivity reactions in various forms of mastocytosis: A pilot study of 2485 adult patients with mastocytosis collected in the ECNM registry.
AllergyStandardized indolent systemic mastocytosis evaluations across a health care system: implications for screening accuracy.
BloodClinical characteristics of 81 patients with maculopapular cutaneous mastocytosis: A 10-year experience.
Indian journal of dermatology, venereology and leprologyGenomic and clinical characterization of a familial GIST kindred intolerant to imatinib.
NPJ genomic medicine[MACULOPAPULAR CUTANEOUS MASTOCYTOSIS HARBORING A KIT MUTATION (ASP419DEL): A CASE REPORT].
Arerugi = [Allergy]A widespread blistering eruption: diffuse cutaneous mastocytosis.
Dermatology online journalDermpath: Eruptive syringoma mimicking cutaneous mastocytosis.
European journal of dermatology : EJDThe Prevalence Of Osteoporosis Is Low in Adult Cutaneous Mastocytosis Patients.
The journal of allergy and clinical immunology. In practiceEpidemiology of mastocytosis: a population-based study (Sweden).
Acta oncologica (Stockholm, Sweden)Diffuse Cutaneous Mastocytosis: A Current Understanding of a Rare Disease.
International journal of molecular sciencesBullous Mastocytosis: A Rare Variant of Diffuse Cutaneous Mastocytosis.
CureusCOVID-19 infection and vaccination in 92 pediatric patients with cutaneous mastocytosis: A retrospective, cross-sectional study.
Pediatric dermatologyDiffuse Cutaneous Mastocytosis: A Rare Entity and its Dermoscopic Features.
Indian dermatology online journalChallenges in the Diagnosis of Cutaneous Mastocytosis.
Diagnostics (Basel, Switzerland)Mastocytosis in the skin in dogs: A multicentric case series.
Veterinary and comparative oncologyCladribine improves cutaneous manifestations, Dermatology Life Quality Index, and Mastocytosis Quality of Life of patients with mastocytosis.
Journal of the American Academy of DermatologyRenal Extramedullary Hematopoiesis in Mast Cell Leukemia with Bone Marrow Fibrosis.
Case reports in hematologyIdiopathic eruptive macular pigmentation in a pediatric patient and a review of the literature.
Pediatric dermatologyCharacteristics of an ethnically diverse cohort of children with pediatric cutaneous mastocytosis: One institution's experience.
Pediatric dermatologyAn Unusual Transition from Cutaneous to Systemic Mastocytosis in a Pediatric Patient.
Pediatric allergy, immunology, and pulmonologyNo indication of aberrant neutrophil extracellular trap release in indolent or advanced systemic mastocytosis.
Scandinavian journal of immunologyUrticaria pigmentosa and systemic mastocytosis.
Clinical case reportsReview and Updates on Systemic Mastocytosis and Related Entities.
CancersCurrent Challenges in the Diagnosis of Pediatric Cutaneous Mastocytosis.
Diagnostics (Basel, Switzerland)Advanced systemic mastocytosis-Revised classification, new drugs and how we treat.
British journal of haematologyWhen Mast Cells Run Amok: A Comprehensive Review and Case Study on Severe Neonatal Diffuse Cutaneous Mastocytosis.
GenesA Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case.
Current oncology (Toronto, Ont.)Diffuse cutaneous mastocytosis in a girl with M541L polymorphism in KIT gene: Response to treatment with imatinib.
Anales de pediatriaUrticaria and mimickers of urticaria.
Frontiers in allergyLatent Mastocytosis Triggered by COVID-19 Vaccination: A Case Report.
Endocrine, metabolic & immune disorders drug targetsPediatric and Hereditary Mastocytosis.
Immunology and allergy clinics of North AmericaCongenital cutaneous mastocytosis mistaken for non-accidental injury.
Pediatric investigationA familial case of diffuse cutaneous mastocytosis.
The journal of allergy and clinical immunology. In practiceUnusual presentation of maculopapular cutaneous mastocytosis in an infant with skin of color.
JAAD case reportsTelangiectasia Macularis Eruptiva Perstans Treated with Narrow-Band UVB Phototherapy and Heliotherapy during the COVID-19 Pandemic.
Acta medica PhilippinaPerioperative management of mastocytosis.
Journal of anesthesiaClinician awareness of the risk of anaphylaxis in patients with cutaneous mastocytosis.
Clinical and experimental dermatologyTelangiectasia macularis eruptiva perstans associated with multiple myeloma.
European journal of dermatology : EJDRecalcitrant Cutaneous Mastocytosis Treated With Genetically Informed Targeted Therapy: A Case Report.
International journal of dermatology and venereologyCutaneous Lesions of Mastocytosis: Mast Cell Count, Morphology, and Immunomolecular Phenotype.
The American Journal of dermatopathologyCutaneous Mastocytosis in Childhood: An Update from the Literature.
Journal of clinical practice and researchUnusual presentation of telangiectasia macularis eruptiva perstans at the site of healed herpes zoster; Wolf's isotopic response.
The Australasian journal of dermatologyAggressive systemic mastocytosis of colon and lymph node: A case report.
MedicineCutaneous mastocytosis in 8 young dogs and review of literature.
Veterinary pathologyChildhood Cutaneous Mastocytosis: Revisited.
Indian journal of dermatology[Mastocytosis in children].
Dermatologie (Heidelberg, Germany)The Role of Mast Cells in the Induction and Maintenance of Inflammation in Selected Skin Diseases.
International journal of molecular sciencesRecent advances in diagnosis and therapy in systemic mastocytosis.
Blood researchRandomized controlled trial of omalizumab in treatment-resistant systemic and cutaneous mastocytosis (ROAM).
The journal of allergy and clinical immunology. In practiceCOVID-19 Vaccines Are Safely Tolerated in Adolescents with Cutaneous Mastocytosis.
International archives of allergy and immunologyRadiotherapy-Associated Cutaneous Mastocytosis in a Patient With Breast Carcinoma. Case Report and Review of the Literature.
The American Journal of dermatopathologyPediatric Cutaneous Mastocytosis With Motor and Intellectual Delay.
Cureus[Solitary mast cell tumor. A case comunication].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)Mastocytosis in children: a single-center long-term follow-up study.
International journal of dermatologyDelayed Diagnosis of Indolent Systemic Mastocytosis as the Cause of Unexplained Skin Rash: A Case Report.
Case reports in oncologyUpdates in diagnosis and management of paediatric mastocytosis.
Current opinion in allergy and clinical immunologyComprehensive mastocytosis data analysis from a single center.
BMC cancerSuccessful treatment with Omalizumab of a child affected by Systemic Mastocytosis: clinical and biological implications.
Italian journal of pediatricsLymph node metastasis in feline cutaneous low-grade mast cell tumours.
Journal of feline medicine and surgeryA Case of Systemic Mastocytosis Diagnosed Endoscopically.
CureusPseudoxanthomatous Mastocytosis in a 2-Month Female Infant.
Indian journal of dermatologyPrognostic Impact of Organomegaly in Mastocytosis: An Analysis of the European Competence Network on Mastocytosis.
The journal of allergy and clinical immunology. In practiceKITD816V mutation in blood for the diagnostic screening of systemic mastocytosis and mast cell activation syndromes.
AllergyDiffuse Cutaneous Mastocytosis.
SkinmedNew Insights into the Pathogenesis of Mastocytosis: Emerging Concepts in Diagnosis and Therapy.
Annual review of pathologyMastocytosis and related entities: a practical roadmap.
Acta clinica BelgicaThe international consensus classification of mastocytosis and related entities.
Virchows Archiv : an international journal of pathologyMast Cell Sarcoma of the Retroperitoneum With Concurrent Systemic Mastocytosis and an Undisclosed Associated Hematologic Neoplasm: A Case Report.
Clinical pathology (Thousand Oaks, Ventura County, Calif.)Dermoscopic Features of Different Forms of Cutaneous Mastocytosis: A Systematic Review.
Journal of clinical medicineAcute abdomen due to anaphylactic intestinal edema associated with systematic mastocytosis: a case report.
International journal of emergency medicineDelayed diagnosis of adult-onset mastocytosis.
Proceedings (Baylor University. Medical Center)The Number of MRGPRX2-Expressing Cells Is Increased in Skin Lesions of Patients With Indolent Systemic Mastocytosis, But Is Not Linked to Symptom Severity.
Frontiers in immunologyMefloquine causes selective mast cell apoptosis in cutaneous mastocytosis lesions by a secretory granule-mediated pathway.
Experimental dermatologyComparison of serum tryptase as a diagnostic oncological marker in canine versus human mast cell neoplasms.
Research in veterinary scienceProgress of telangiectasia macularis eruptiva perstans exacerbated egg allergy.
Pediatrics international : official journal of the Japan Pediatric SocietyPersistent Facial Flushing in a Patient with Telangiectasia Macularis Eruptiva Perstans: An Unusual but Should Emphasized Clinical Finding.
Clinical, cosmetic and investigational dermatology[A CHILD CASE OF DIFFUSE CUTANEOUS MASTOCYTOSIS].
Arerugi = [Allergy]Drugs and Vaccines Hypersensitivity in Children with Mastocytosis.
Journal of clinical medicineSuccessful treatment of psoriasis with risankizumab in a patient with telangiectasia macularis eruptiva perstans.
JAAD case reportsA case of cutaneous bullous mastocytosis in a Yorkshire terrier puppy.
Veterinary dermatologyHistopathological characteristics are instrumental to distinguish monomorphic from polymorphic maculopapular cutaneous mastocytosis in children.
Clinical and experimental dermatologyMastocytosis: Fertility and Pregnancy Management in a Rare Disease.
Frontiers in oncologyAcute increases in total serum tryptase unassociated with hemodynamic instability in diffuse cutaneous mastocytosis.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyClinical impact and proposed application of molecular markers, genetic variants, and cytogenetic analysis in mast cell neoplasms: Status 2022.
The Journal of allergy and clinical immunologyValidation of dermatopathological criteria to diagnose cutaneous lesions of mastocytosis: importance of KIT D816V mutation analysis.
Journal of the European Academy of Dermatology and Venereology : JEADVUrticarial vasculitis: Clinical and laboratory findings with a particular emphasis on differential diagnosis.
The Journal of allergy and clinical immunologyThe Expressions of CD30 and CD123 of Mastocytosis in Taiwan.
Applied immunohistochemistry & molecular morphology : AIMMDisseminated tense bullae on newborn.
JAAD case reports-2518A/G polymorphism of monocyte chemotactic protein 1 (MCP-1/CCL2) is associated with cutaneous mastocytosis.
Postepy dermatologii i alergologiiCutaneous mastocytosis in a child with a de novo GNB1 mutation.
Pediatric dermatologyCutaneous mastocytosis in childhood.
Allergologie selectA Multidisciplinary Diagnostic Approach Reveals a Higher Prevalence of Indolent Systemic Mastocytosis: 15-Years' Experience of the GISM Network.
CancersQuality of life in patients with allergic and immunologic skin diseases: in the eye of the beholder.
Clinical and molecular allergy : CMAUpdated Diagnostic Criteria and Classification of Mast Cell Disorders: A Consensus Proposal.
HemaSpherePediatric Mastocytosis: An Update.
Mediterranean journal of hematology and infectious diseasesTelangiectasia Macularis Eruptiva Perstans of the Scalp Mimicking Angiosarcoma.
The American Journal of dermatopathologyMastocytosis and Mast Cell Activation Disorders: Clearing the Air.
International journal of molecular sciencesMastocytosis-A Review of Disease Spectrum with Imaging Correlation.
CancersA Double Histochemical/Immunohistochemical Staining for the Identification of Canine Mast Cells in Light Microscopy.
Veterinary sciencesClinicopathological Profile of Childhood Onset Cutaneous Mastocytosis from a Tertiary Care Center in South India.
Indian dermatology online journalSystemic Mastocytosis: Advances in Diagnosis and Current Management.
Cancer treatment and researchAnaphylaxis and epinephrine autoinjector use in pediatric patients with cutaneous mastocytosis.
Pediatric dermatologyUnsatisfactory agreement using current classification of maculopapular cutaneous mastocytosis.
Journal of the European Academy of Dermatology and Venereology : JEADVFrequency and prognostic impact of blood-circulating tumor mast cells in mastocytosis.
BloodMaculopapular Cutaneous Mastocytosis Successfully Treated with Omalizumab.
Acta dermatovenerologica Croatica : ADCGeneralized Eruptive Syringoma in a Nigerian Woman: A Case Report and a Brief Literature Review.
Nigerian journal of clinical practiceDeveloping a standardized approach for assessing mast cells and eosinophils on tissue biopsies: A Work Group Report of the AAAAI Allergic Skin Diseases Committee.
The Journal of allergy and clinical immunologyModulation of dermal equivalent of hypothalamus-pituitary-adrenal axis in mastocytosis.
Postepy dermatologii i alergologiiTargeting KIT by frameshifting mRNA transcripts as a therapeutic strategy for aggressive mast cell neoplasms.
Molecular therapy : the journal of the American Society of Gene TherapyCutaneous mastocytosis-Conglomerate of diagnostic tools: A report of four cases.
Indian journal of pathology & microbiologyThe novel KIT exon 11 germline mutation K558N is associated with gastrointestinal stromal tumor, mastocytosis, and seminoma development.
Genes, chromosomes & cancerCase Report and Review of the Literature: Bullous Skin Eruption After the Booster-Dose of Influenza Vaccine in a Pediatric Patient With Polymorphic Maculopapular Cutaneous Mastocytosis.
Frontiers in immunologyPathogenic and diagnostic relevance of KIT in primary mast cell activation disorders.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyExpression of MRGPRX2 in skin mast cells of patients with maculopapular cutaneous mastocytosis.
The journal of allergy and clinical immunology. In practicePoikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs.
Frontiers in medicineClinical and Demographic Characteristics of Cutaneous Mastocytosis in Childhood: Single-center Experience.
Journal of pediatric hematology/oncologyInterobserver variability in the classification of childhood maculopapular cutaneous mastocytosis.
Journal of the European Academy of Dermatology and Venereology : JEADVGenodermatoses in Las Tunas Province, Cuba, 1989-2019.
MEDICC reviewCutaneous Mastocytosis in Childhood-Update from the Literature.
Journal of clinical medicineNatural evolution in pediatric cutaneous mastocytosis: 10-year follow-up.
International journal of dermatologyCutaneous Mastocytosis in a Pediatric Dental Patient: Multidisciplinary Approach to Oral Management.
Journal of dentistry for children (Chicago, Ill.)Diffuse cutaneous mastocytosis masquerading as linear IgA bullous dermatosis of childhood.
Dermatology reportsCutaneous mastocytosis in adults with a serum tryptase level < 20 ng mL-1 : why we should investigate further.
The British journal of dermatologyMolecular Background, Clinical Features and Management of Pediatric Mastocytosis: Status 2021.
International journal of molecular sciencesMediator-Related Symptoms and Anaphylaxis in Children with Mastocytosis.
International journal of molecular sciencesMedical, neurobiological, and psychobehavioral perspectives of mastocytosis: a case report.
Journal of medical case reportsFamilial occurrence of systemic and cutaneous mastocytosis in an adult multicentre series.
British journal of haematologyMastocytosis in the skin accompanied by pseudo-Kaposi's sarcoma.
The Journal of dermatologyClinical Impact of Skin Lesions in Mastocytosis: A Multicenter Study of the European Competence Network on Mastocytosis.
The Journal of investigative dermatologyCME suggestions for pediatricians, allergists, and dermatologists, directed by an online survey on urticaria knowledge.
Allergologia et immunopathologiaDiffuse cutaneous mastocytosis: Identification of KIT mutation and long-term follow-up with serum tryptase level.
The Journal of dermatologyPediatric Mastocytosis: Recognition and Management.
American journal of clinical dermatologyDetection of the germline KIT S476I mutation in a kindred with familial mastocytosis associated with gastrointestinal stromal tumors.
The journal of allergy and clinical immunology. In practiceAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Molecular characterization of pediatric mastocytosis revealed different somatic mutations with uncertain prognostic value.
- Soluble FcεRI is increased in advanced mastocytosis and acts as a negative regulator of mast cell expansion and activation.
- Avapritinib improves cutaneous involvement in patients with indolent systemic mastocytosis: Results from the randomized, phase 2, interventional PIONEER study.
- ISM-1 expression in cutaneous mastocytosis: Diagnostic potential and comparison with CD117.
- Comparative Analysis of Pediatric and Adult Mastocytosis: Clinical Presentation, Triggers, and Treatment Patterns from a Tertiary Care Registry.
- A successful treatment of urticaria pigmentosa with omalizumab in a pediatric patient: a case report.
- Reconsidering cytoreductive therapy in high-risk pediatric mastocytosis: From diffuse cutaneous to smoldering systemic disease.
- Unexplained Syncope in Mastocytosis: The Role of Early Dermatological Recognition.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:66646(Orphanet)
- OMIM OMIM:154800(OMIM)
- MONDO:0019023(MONDO)
- GARD:7842(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3851645(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
