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BACKGROUND: Hypersensitivity reactions (HR) are common in mastocytosis. However, little is known about triggers and risk factors. The registry of the European Competence Network on Mastocytosis (ECNM) enables reliable studies in a larger cohort of mastocytosis patients. We assessed prevalence, triggers and risk factors of HR in adults with mastocytosis in the ECNM registry. METHODS: Data were collected in 27 ECNM centers. We analyzed potential triggers (Hymenoptera venoms, food, drug, inhalant and others) and risk factors at diagnosis and during follow-up. The study group consisted of 2485 adults with mastocytosis, 1379 women (55.5%) and 1106 men (44.5%). Median age was 48.2 years (range 18-91 years). RESULTS: Nine hundred and forty eight patients (38.1%) reported one or more HR`. Most common triggers were Hymenoptera venoms in cutaneous mastocytosis (CM) and indolent systemic mastocytosis (ISM), whereas in advanced SM (advSM), most common elicitors were drugs, including nonsteroidal anti-inflammatory agents and penicillin. In multivariate analyses, tryptase level < 90 ng/mL, <15% infiltration by mast cells in bone marrow biopsy-sections, and diagnosis of ISM were identified as independent risk factors for HR. For drug-induced HR, prominent risk factors were advSM and high tryptase levels. New reactions were observed in 4.8% of all patients during 4 years follow-up. CONCLUSIONS: HR are mainly triggered by Hymenoptera venoms in patients with CM and ISM and by drugs in patients with advSM. Tryptase levels <90 ng/mL, mast cell bone marrow infiltration <15%, and WHO category ISM are predictors of HR. New HR occur in 4.8% of all patients within 4 years.
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We report a newborn patient with trichothiodystrophy-3 (TTD3) caused by a novel homozygous variant in the GTF2H5 gene. His severe phenotype included congenital ichthyosis, complex posterior cranial fossa anomaly, life-threatening infections, bilateral cryptorchidism, and, notably, a complex cardiac malformation, which is unprecedented in TTD3 patients.
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Síndromes de Tricotiodistrofia , Humanos , Recém-Nascido , Masculino , Homozigoto , Fenótipo , Fatores de Transcrição/genética , Síndromes de Tricotiodistrofia/genéticaRESUMO
BACKGROUND: Contact allergy and atopic dermatitis (AD) are both common inflammatory T cell-mediated diseases and many factors may influence the prevalence of contact allergy in AD patients. In children, their possible correlation was debated with conflicting results. OBJECTIVES: The present study aimed to assess the prevalence of contact sensitivity in children and to investigate the association with AD. MATERIALS AND METHODS: A retrospective multicentre study on children aged from 0 to 14 years patch tested between January 2017 and December 2018 was performed. Children were consecutively patch tested with the SIDAPA (Società Italiana Dermatologia Allergologica Professionale Ambientale) baseline series. RESULTS: Among the 432 children investigated for contact allergy, 125 (28.9%) showed a positive reaction to at least one of the allergens tested, with a higher prevalence of positive patch test reactions in girls (32.3%) than in boys (25.0%). The most frequent contact allergens were nickel sulphate (10.2%), cobalt chloride (6.7%), methylisothiazolinone (3.7%), fragrance mix-2 (3.2%), potassium dichromate (2.8%), fragrance mix-1 (2.1%) and methylchloroisothiazolinone/methylisothiazolinone (2.1%). One-hundred-three children (23.8%) suffered from AD showing a higher prevalence of positive patch test (36.9%) compared to children without AD (26.4%). CONCLUSIONS: Despite the topic being still controversial, the present study suggests a consistent prevalence of contact allergy among children with higher sensitivity rate among children with AD than without AD.
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Dermatite Alérgica de Contato , Dermatite Atópica , Alérgenos/efeitos adversos , Criança , Dermatite Alérgica de Contato/epidemiologia , Dermatite Alérgica de Contato/etiologia , Dermatite Atópica/epidemiologia , Feminino , Humanos , Masculino , Testes do Emplastro , Dicromato de Potássio , Prevalência , Estudos RetrospectivosRESUMO
BACKGROUND: Studies suggest that patch testing with formaldehyde releasers (FRs) gives significant additional information to formaldehyde 1% aq. and should be considered for addition to the European baseline series (EBS). It is not known if this is also true for formaldehyde 2% aq. OBJECTIVES: To determine the frequency of sensitization to formaldehyde 2% aq. and co-reactivity with FRs. To establish whether there is justification for including FRs in the EBS. MATERIALS AND METHODS: A 4-year, multi-center retrospective analysis of patients with positive patch test reactions to formaldehyde 2% aq. and five FRs. RESULTS: A maximum of 15 067 patients were tested to formaldehyde 2% aq. and at least one FR. The percentage of isolated reactions to FR, without co-reactivity to, formaldehyde 2% aq. for each FR were: 46.8% for quarternium-15 1% pet.; 67.4% imidazolidinyl urea 2% pet.; 64% diazolidinyl urea 2% pet.; 83.3% 1,3-dimethylol-5, 5-dimethyl hydantoin (DMDM) hydantoin 2% pet. and 96.3% 2-bromo-2-nitropropane-1,3-diol 0.5% pet. This demonstrates that co-reactivity varies between FRs and formaldehyde, from being virtually non-existent in 2-bromo-2-nitropropane-1,3-diol 0.5% pet. (Cohen's kappa: 0, 95% confidence interval [CI] -0.02 to 0.02)], to only weak concordance for quaternium-15 [Cohen's kappa: 0.22, 95%CI 0.16 to 0.28)], where Cohen's kappa value of 1 would indicate full concordance. CONCLUSIONS: Formaldehyde 2% aq. is an inadequate screen for contact allergy to the formaldehyde releasers, which should be considered for inclusion in any series dependant on the frequency of reactions to and relevance of each individual allergen.
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Dermatite Alérgica de Contato/diagnóstico , Formaldeído/administração & dosagem , Formaldeído/efeitos adversos , Testes do Emplastro/métodos , Alérgenos/administração & dosagem , Alérgenos/efeitos adversos , Dermatite Alérgica de Contato/etiologia , Humanos , Nitroparafinas/administração & dosagem , Nitroparafinas/efeitos adversos , Propano/administração & dosagem , Propano/efeitos adversos , Propano/análogos & derivados , Ureia/administração & dosagem , Ureia/efeitos adversos , Ureia/análogos & derivadosRESUMO
BACKGROUND: Colophonium is a natural substance derived from Pineaceae trees. It is used in a wide range of consumer and occupational products because of its tackiness, and is a known sensitizer. OBJECTIVES: To analyse the temporal trend of contact allergy to colophonium in north-eastern Italy, and to evaluate the associations with occupations in our geographical area. METHODOLOGY: From 1996 to 2016, 27 381 patients with suspected allergic contact dermatitis were patch tested in north-eastern Italy. Individual characteristics were documented by use of a standardized questionnaire in 6 departments of dermatology or occupational medicine. RESULTS: The overall prevalence of colophonium sensitization was 1.67%; the prevalence was significantly higher in women (1.75%) than in men (1.49%). No significant differences among departments were observed. We found significant associations between colophonium sensitization and being a student (odds ratio [OR] 4.64; 95% confidence interval [CI]: 1.04-20.6), being a farmer or fishermen (OR 3.63; 95%CI: 1.21-10.84), being a housekeeper (OR 2.02; 95%CI: 1.08-3.77), and being retired (OR 2.06; 95%CI: 1.08-3.92). CONCLUSION: Our study showed that contact allergy to colophonium is still relevant in north-eastern Italy. The frequency of sensitization has dropped significantly over a period of 10 years, but students and farmers/fishermen still have sensitization prevalences above 3.5%. Our results are in line with European data.
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Dermatite Alérgica de Contato/epidemiologia , Dermatite Ocupacional/epidemiologia , Resinas Vegetais/efeitos adversos , Adulto , Distribuição por Idade , Idoso , Alérgenos/efeitos adversos , Dermatite Alérgica de Contato/etiologia , Dermatite Ocupacional/etiologia , Feminino , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Testes do Emplastro , Pinus , Prevalência , Distribuição por SexoRESUMO
This article provides comprehensive recommendations for the systemic treatment of severe pediatric psoriasis based on evidence obtained from a systematic review of the literature and the consensus opinion of expert dermatologists and pediatricians. For each systemic treatment, the grade of recommendation (A, B, C) based on the treatment's approval by the European Medicines Agency for childhood psoriasis and the experts' opinions is discussed. The grade of recommendation for narrow-band-ultraviolet B phototherapy, cyclosporine, and retinoids is C, while that for methotrexate is C/B. The use of adalimumab, etanercept, and ustekinumab has a grade A recommendation. No conventional systemic treatments are approved for pediatric psoriasis. Adalimumab is approved by the European Medicines Agency as a first-line treatment for severe chronic plaque psoriasis in children (≥ 4 years old) and adolescents. Etanercept and ustekinumab are approved as second-line therapy in children ≥ 6 and ≥ 12 years, respectively. CONCLUSION: A treatment algorithm as well as practical tools (i.e., tabular summaries of differential diagnoses, treatment mechanism of actions, dosing regimens, control parameters) are provided to assist in therapeutic reasoning and decision-making for individual patients. These treatment recommendations are endorsed by major Italian Pediatric and Dermatology Societies. What is Known: ⢠Guidelines for the treatment of severe pediatric psoriasis are lacking and most traditional systemic treatments are not approved for use in young patients. Although there has been decades of experience with some of the traditional agents such as phototherapy, acitretin, and cyclosporine in children, there are no RCTs on their pediatric use while RCTs investigating new biologic agents have been performed. What is New: ⢠In this manuscript, an Italian multidisciplinary team of experts focused on treatment recommendations for severe forms of psoriasis in children based on an up-to-date review of the literature and experts' opinions.
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Anti-Inflamatórios/uso terapêutico , Fármacos Dermatológicos/uso terapêutico , Fototerapia/métodos , Psoríase/terapia , Criança , Terapia Combinada , Humanos , Itália , Psoríase/diagnóstico , Psoríase/genética , Psoríase/psicologia , Índice de Gravidade de DoençaRESUMO
BACKGROUND: The reasons for the appearance of acne in adulthood are largely unknown. OBJECTIVE: We explored the role of personal and environmental factors in adult female acne. METHODS: We conducted a multicenter case-control study in the outpatient departments of 12 Italian cities. Cases (n = 248) were consecutive women ≥25 years of age with newly diagnosed acne of any grade. Controls (n = 270) were females diagnosed with conditions other than acne. RESULTS: In multivariate analysis, a history of acne in parents (odds ratio [OR] = 3.02) or siblings (OR = 2.40), history of acne during adolescence (OR = 5.44), having no previous pregnancies (OR = 1.71), having hirsutism (OR = 3.50), being an office worker versus being unemployed or being a housewife (OR = 2.24), and having a high level of reported psychological stress (OR = 2.95) were all associated with acne. A low weekly intake of fruits or vegetables (OR = 2.33) and low consumption of fresh fish (OR = 2.76) were also associated with acne. LIMITATIONS: We did not establish an onset date for acne. Some of our associations may reflect consequences of established acne. CONCLUSION: Lifestyle factors may play an important role for acne development in adulthood, but their role should be further assessed in prospective studies.
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Acne Vulgar/epidemiologia , Dieta , Hirsutismo/epidemiologia , Estresse Psicológico/epidemiologia , Acne Vulgar/genética , Adolescente , Adulto , Estudos de Casos e Controles , Feminino , Frutas , Número de Gestações , Humanos , Itália/epidemiologia , Ocupações , Recidiva , Fatores de Risco , Alimentos Marinhos , Desemprego , VerdurasRESUMO
Over the last decades, Life Course Research (LCR), predominantly the domain of sociology, has been increasingly applied in health research, as Life Course Epidemiology (LCE). The latter is concerned with disease patterns over time, accumulation of exposures over time, critical time periods and patterns of risk. We argue that concepts from LCR and LCE could be widely applied in dermatology, in general, and, more precisely, in the study of chronic inflammatory skin diseases, e.g. atopic eczema and psoriasis. The life course approach can generally be applied in two different ways. It may be used in the more traditional manner, in which the disease and its patterns over time are examined as the outcome vari-able. Conversely, it can examine life course as the outcome variable, which is dependent on the disease course, the treatments administered, and other physical or psychosocial environmental exposures. In dermatology, this second application of the LCR concepts is both promising and relevant because of the notable impact of chronic skin diseases on the patients' quality of life. In particular, we argue how LCR may be conducive to a better understanding of the concept of 'Cumulative Life Course Impairment', which is increasingly gaining acceptance. This approach helps identifying not only individuals at risk and particularly vulnerable patients but also critical periods for optimising interventions in order to avoid life course impairment. It also may facilitate more appropriate treatment decisions in clinical practice.
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Psoríase/epidemiologia , Psoríase/psicologia , Adaptação Psicológica , Doença Crônica , Efeitos Psicossociais da Doença , Humanos , Acontecimentos que Mudam a Vida , Psoríase/terapia , Qualidade de VidaRESUMO
This comprehensive review offers a detailed look at atopic dermatitis (AD) treatment in Italy, focusing primarily on the use of biologics and small molecules. In response to advancing knowledge of AD's causes and treatments, there's a global need for updated guidelines to provide physicians with a more comprehensive clinical perspective, facilitating personalized treatment strategies. Dupilumab, a groundbreaking biologic, gained approval as a significant milestone. Clinical trials demonstrated its ability to significantly reduce AD severity scores, with an impressive 37% of patients achieving clear or nearly clear skin within just 16 weeks of treatment. Real-world studies further support its efficacy across various age groups, including the elderly, with a safety profile akin to that of younger adults. Tralokinumab, a more recent approval, shows promise in clinical trials, particularly among younger populations. However, its real-world application, especially in older individuals, lacks comprehensive data. Janus Kinases inhibitors like Upadacitinib, Baricitinib, and Abrocitinib hold substantial potential for AD treatment. Nevertheless, data remains limited for patients over 75, with older adults perceived to carry a higher risk profile. Integrated safety analyses revealed individuals aged 60 and above experiencing major adverse cardiovascular events and malignancies, underscoring the need for cautious consideration. While these therapies offer promise, especially among younger patients, further research is essential to determine their safety and efficacy in various populations, including pediatric, geriatric, and those with comorbidities. Biologics and small molecules are improving AD treatment, as shown in this review.
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BACKGROUND AND OBJECTIVE: The estimated prevalence of atopic dermatitis (AD) among adolescents (12-17 years of age) is about 14.8%. AD compromises sleep quality and may be associated with poor scholastic performance, mood disruptions, low self-esteem, and difficulty in building social relationships. Upadacitinib was recently approved by the European Medicines Agency for the treatment of moderate-to-severe AD in patients aged ≥ 12 years who are candidates for systemic treatment. The aim of this real-world study was to determine the effectiveness in disease control and safety of upadacitinib in adolescents aged 12-17 years with moderate-to-severe AD. METHODS: This is a retrospective study in adolescents with moderate-to-severe AD treated with upadacitinib 15 mg between July 2022 and February 2024 at six Italian dermatological referral centres. The primary endpoint was to analyse the evolution of the response in terms of absolute Eczema Area and Severity Index (EASI) value, as well as the percentage of patients achieving 75% and 90% improvement in EASI (EASI75 and EASI90) from baseline to weeks (W) 4, 16, 24, and 52. Secondary endpoints included the assessment of treatment efficacy in terms of Numerical Rating Scale (NRS) for pruritus (P-NRS) and sleep (S-NRS), Children's Dermatology Life Quality Index (c-DLQI), and safety. RESULTS: Thirty-six patients [males: 18 (50%)] were evaluated. A statistically significant improvement of EASI was observed at each timepoint, as stated by a mean percentage reduction from baseline of 72.2% at W4, 82.7% at W16, of 86.4% at W24 (n = 34) and of 92.7% at W52 (n = 18) (p < 0.0001). At W4, 21/36 (58.3%) achieved EASI75 and 12/36 (33.3%) EASI90. At W16, 29/36 (80.5%) achieved EASI75 and 19/36 (52.8%) EASI90. At W24, 32/34 (94.1%) reached EASI75 and 24/34 (70.6%) EASI90. Finally, at W52 all the assessed patients (n = 18) maintained EASI75 and 14/18 (77.7%) reached EASI90. Likewise, a statistically significant reduction of c-DLQI, P-NRS and S-NRS was observed at each timepoint. CONCLUSION: Our real-world experience seems to confirm the efficacy and safety of upadacitinib for the long-term treatment of moderate-to-severe AD in adolescents.
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INTRODUCTION: Atopic dermatitis (AD) is a chronic inflammatory skin disease that negatively impacts the quality of life and work productivity of patients. OBJECTIVES: We sought to evaluate the real-world burden of AD patients in Italy. METHODS: This sub-analysis of the MEASURE-AD multicountry study conducted between December 2019-2020 included patients diagnosed with moderate-to-severe AD eligible for or receiving systemic therapy in the previous 6 months. During a single visit, physician and patient-reported questionnaires were used. RESULTS: A total of 118 adult patients were enrolled and 57.6% (N = 68) of patients had moderate-to-severe AD at the time of enrolment according to the Eczema Area and Severity Index. Sleep disorders interfered with daily function in the previous week in 58.5% (N = 69) of patients, pruritus was severe in 50% (N = 59) and 42.4% (N = 50) reported a flare lasting >7 days in the previous 6 months. According to the Dermatology Quality of Life Index, 37.3% (N = 44) of patients reported a severe impact of AD and approximately 10% had clinical depression/anxiety. Current drug therapy was considered inadequate in controlling AD in 26.3% (N=31) of patients. Work activity impairment was 38.6±31.7% and monthly AD-related expenses were 148.6±134.6 Euros per patient. CONCLUSIONS: This real-life study documents a high burden of disease in patients with moderate-severe AD in Italy.
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ABSTRACT: Certain laboratory abnormalities correlate with subvariants of systemic mastocytosis (SM) and are often prognostically relevant. To assess the diagnostic and prognostic value of individual serum chemistry parameters in SM, 2607 patients enrolled within the European Competence Network on Mastocytosis and 575 patients enrolled within the German Registry on Eosinophils and Mast Cells were analyzed. For screening and diagnosis of SM, tryptase was identified as the most specific serum parameter. For differentiation between indolent and advanced SM (AdvSM), the following serum parameters were most relevant: tryptase, alkaline phosphatase, ß2-microglobulin, lactate dehydrogenase (LDH), albumin, vitamin B12, and C-reactive protein (P < .001). With regard to subvariants of AdvSM, an elevated LDH of ≥260 U/L was associated with multilineage expansion (leukocytosis, r = 0.37, P < .001; monocytosis, r = 0.26, P < .001) and the presence of an associated myeloid neoplasm (P < .001), whereas tryptase levels were highest in mast cell leukemia (MCL) vs non-MCL (308µg/L vs 146µg/L, P = .003). Based on multivariable analysis, the hazard-risk weighted assignment of 1 point to LDH (hazard ratio [HR], 2.1; 95% confidence interval [CI], 1.1-4.0; P = .018) and 1.5 points each to ß2-microglobulin (HR, 2.7; 95% CI, 1.4-5.4; P = .004) and albumin (HR, 3.3; 95% CI, 1.7-6.5; P = .001) delineated a highly predictive 3-tier risk classification system (0 points, 8.1 years vs 1 point, 2.5 years; ≥1.5 points, 1.7 years; P < .001). Moreover, serum chemistry parameters enabled further stratification of patients classified as having an International Prognostic Scoring System for Mastocytosis-AdvSM1/2 risk score (P = .027). In conclusion, serum chemistry profiling is a crucial tool in the clinical practice supporting diagnosis and prognostication of SM and its subvariants.
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Mastocitose Sistêmica , Sistema de Registros , Humanos , Mastocitose Sistêmica/diagnóstico , Mastocitose Sistêmica/sangue , Prognóstico , Masculino , Feminino , Pessoa de Meia-Idade , Adulto , Idoso , Biomarcadores/sangue , Triptases/sangueAssuntos
Obesidade Abdominal/epidemiologia , Obesidade Infantil/epidemiologia , Psoríase/epidemiologia , Adolescente , Fatores Etários , Índice de Massa Corporal , Estudos de Casos e Controles , Criança , Comorbidade , Estudos Transversais , Feminino , Humanos , Itália/epidemiologia , Masculino , Obesidade Abdominal/diagnóstico , Obesidade Infantil/diagnóstico , Prevalência , Psoríase/diagnóstico , Fatores de Risco , Índice de Gravidade de Doença , Fatores de Tempo , Relação Cintura-QuadrilRESUMO
Psoriasis is a common chronic skin disease mainly located in areas of friction. Psoriasis of the lips as an exclusive presentation is rare and often misdiagnosed. Different anti-psoriatic therapies have been proposed, but the literature is limited to case studies with partial results. Biologic therapies have revolutionized the management of many dermatologic conditions, including psoriasis, and they are approved for pediatric use. We report the case of a 14-year-old boy with a 2-year history of white-yellowish scaling lesions on his lips, without intraoral involvement. Lip biopsy showed a psoriasiform pattern. Treatment with adalimumab 40 mg every other week was started, and after 6 months of therapy, we obtained a complete remission of the patient's lip psoriasis.
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We present the case of a child developing widespread vesicle-bullous lesions during an acute and symptomatic Epstein-Barr Virus infection. Antibody serology, biopsy, and direct immunofluorescence allowed the diagnosis of a paraviral bullous eruption. To our knowledge, this is the first report of bullous eruption following Epstein-Barr virus infection in childhood.
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Patients with a stoma are at risk of developing peristomal skin complications (PSCs) that can negatively impact their quality of life. This study aims to identify potential risk factors for dermatitis, pruritis/xerosis, infections, and ulcerations among patients with a stoma and evaluate preventive measures. This cross-sectional study involved data regarding 232 Italian patients with a stoma. A questionnaire was used to collect patient characteristics, comorbidities, and stoma management data. The most frequent PSCs observed were dermatitis and pruritis/xerosis in approximately 60% of patients. Psoriasis was strongly correlated with dermatitis, while being overweight or obese increased the risk of pruritis/xerosis. Class 2 obesity and atopic dermatitis were associated with an increased risk of infections. Being underweight, completely nonautonomous, and having inflammatory bowel disease were associated with a higher risk of ulcerations, while radiotherapy was a strong risk factor for ulceration. Preventive measures such as using hydrocolloid barriers, TNT gauze cleansing, and low pH detergent were effective in preventing dermatitis. Appropriate stoma care and maintenance, including the use of protective film and careful monitoring of weight and comorbidities, are crucial in minimizing the risk of complications associated with a stoma.
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BACKGROUND: Organomegaly, including splenomegaly, hepatomegaly, and/or lymphadenopathy, are important diagnostic and prognostic features in patients with cutaneous mastocytosis (CM) or systemic mastocytosis (SM). OBJECTIVES: To investigate the prevalence and prognostic impact of 1 or more organomegalies on clinical course and survival in patients with CM/SM. METHODS: Therefore, 3155 patients with CM (n = 1002 [32%]) or SM (n = 2153 [68%]) enrolled within the registry of the European Competence Network on Mastocytosis were analyzed. RESULTS: Overall survival (OS) was adversely affected by the number of organomegalies (OS: #0 vs #1 hazard ratio [HR], 4.9; 95% CI, 3.4-7.1, P < .001; #1 vs #2 HR, 2.1, 95% CI, 1.4-3.1, P < .001; #2 vs #3 HR, 1.7, 95% CI, 1.2-2.5, P = .004). Lymphadenopathy was frequently detected in patients with smoldering SM (SSM, 18 of 60 [30%]) or advanced SM (AdvSM, 137 of 344 [40%]). Its presence confered an inferior outcome in patients with AdvSM compared with patients with AdvSM without lymphadenopathy (median OS, 3.8 vs 2.6 years; HR, 1.6; 95% CI, 1.2-2.2; P = .003). OS was not different between patients having organomegaly with either ISM or SSM (median, 25.5 years vs not reached; P = .435). At time of disease progression, a new occurrence of any organomegaly was observed in 17 of 40 (43%) patients with ISM, 4 of 10 (40%) patients with SSM, and 33 of 86 (38%) patients with AdvSM, respectively. CONCLUSIONS: Organomegalies including lymphadenopathy are often found in SSM and AdvSM. ISM with organomegaly has a similar course and prognosis compared with SSM. The number of organomegalies is adversely associated with OS. A new occurrence of organomegaly in all variants of SM may indicate disease progression.
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Linfadenopatia , Mastocitose Cutânea , Mastocitose Sistêmica , Mastocitose , Humanos , Prognóstico , Mastocitose/diagnóstico , Mastocitose Sistêmica/diagnóstico , Mastocitose Sistêmica/epidemiologia , Progressão da DoençaRESUMO
Mast cell leukemia (MCL) is a rare subtype of systemic mastocytosis defined by ≥20% mast cells (MC) on a bone marrow aspirate. We evaluated 92 patients with MCL from the European Competence Network on Mastocytosis registry. Thirty-one (34%) patients had a diagnosis of MCL with an associated hematologic neoplasm (MCL-AHN). Chronic MCL (lack of C-findings) comprised 14% of patients, and only 4.5% had "leukemic MCL" (≥10% circulating MCs). KIT D816V was found in 62/85 (73%) evaluable patients; 9 (11%) individuals exhibited alternative KIT mutations, and no KIT variants were detected in 14 (17%) subjects. Ten evaluable patients (17%) had an abnormal karyotype and the poor-risk SRSF2, ASXL1, and RUNX1 (S/A/R) mutations were identified in 16/36 (44%) patients who underwent next-generation sequencing. Midostaurin was the most common therapy administered to 65% of patients and 45% as first-line therapy. The median overall survival (OS) was 1.6 years. In multivariate analysis (S/A/R mutations excluded owing to low event rates), a diagnosis of MCL-AHN (hazard ratio [HR], 4.7; 95% confidence interval [CI], 1.7-13.0; P = .001) and abnormal karyotype (HR, 5.6; 95% CI, 1.4-13.3; P = .02) were associated with inferior OS; KIT D816V positivity (HR, 0.33; 95% CI, 0.11-0.98; P = .04) and midostaurin treatment (HR, 0.32; 95% CI, 0.08-0.72; P = .008) were associated with superior OS. These data provide the most comprehensive snapshot of the clinicopathologic, molecular, and treatment landscape of MCL to date, and should help further inform subtyping and prognostication of MCL.
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Leucemia de Mastócitos , Mastocitose Sistêmica , Mastocitose , Humanos , Leucemia de Mastócitos/diagnóstico , Leucemia de Mastócitos/genética , Mastocitose Sistêmica/diagnóstico , Mastocitose Sistêmica/tratamento farmacológico , Mastocitose Sistêmica/genética , Mastócitos , Cariótipo AnormalRESUMO
The aim of this study was to investigate the dermoscopic changes in acquired melanocytic naevi in a large paediatric population over an interval of several years. Images of 717 melanocytic naevi were obtained from 160 consecutive patients. Dermoscopic pigment pattern changes were observed in one of two lesions after a follow-up of one year, in 34 of 295 lesions (11.5%) after 2 years, in 40 of 190 lesions (21.1%) after 3 years, in 40 of 141 lesions (28.4%) after 4 years, in 5 of 37 lesions (13.5%) after 5 years, in 12 of 31 lesions (38.8%) after 6 years, and in 7 of 21 lesions (33.3%) after 7 years. Dermoscopic changes were detected in 25.3% of the lesions in patients aged 3-6 years, in 21% of the lesions in patients aged 7-12 years, and in 15.5% of the lesions in patients over 13 years. Main pattern changes consisted of transition from globular to globular-reticular (35 naevi), from globular to reticular (14 naevi) and from globular-reticular to reticular (24 naevi). These results are consistent with the view that melanocytic naevi generally undergo a characteristic transition from a globular pattern to a reticular pattern. Most of the changes are observed in the 3-6 years age group when hormonal and/or environmental factors are not thought to play a role in pattern alterations.