Systemic mastocytosis (SM) and other adult clonal mast cell disorders (CMD) are often underestimated, and their epidemiology data are scarce. We aimed at evaluating the impact of the activity of the ...Interdisciplinary Group for Study of Mastocytosis (GISM) of Verona on the prevalence and incidence of CMD. We examined the data of 502 adult patients diagnosed with CMD and residing in the Veneto Region, consecutively referred to GISM between 2006 and 2020. SM was diagnosed in 431 cases, while 71 patients had cutaneous mastocytosis or other CMD. Indolent SM represented the most frequent SM variant (91.0%), mainly with the characteristics of bone marrow mastocytosis (54.8%). The prevalence of SM in the adult population of the Veneto region and of the Verona province was 10.2 and 17.2/100,000 inhabitants, respectively. The mean incidence of new SM cases in Verona was 1.09/100,000 inhabitants/year. Hymenoptera venom allergy was the main reason (50%) leading to the CMD diagnosis. Osteoporosis, often complicated by fragility fractures, was present in 35% of cases, even in young patients, especially males. Our data show a higher prevalence and incidence of SM than previously reported, confirming that reference centers with multidisciplinary approach are essential for the recognition and early diagnosis of CMD.
Background Systemic mastocytosis is a clonal mast cell (MC) disease that can lead to potentially fatal anaphylactic reactions caused by excessive MC mediator release. The prevalence of mastocytosis ...in patients with Hymenoptera venom allergy is high, and thus the disease should be suspected in patients with severe reactions caused by Hymenoptera stings and increased serum basal tryptase (SBT) levels. Objective We sought to evaluate the presence of clonal MC disorders in patients seen at our mastocytosis center with Hymenoptera sting–induced anaphylaxis, documented hypotension, absence of urticaria pigmentosa, and normal SBT levels. Methods Twenty-two patients with Hymenoptera sting–induced anaphylaxis, without skin lesions, and with tryptase levels of less than 11.4 ng/mL underwent bone marrow evaluation. Bone mineral density was assessed in those patients with ascertained mastocytosis. Results In 16 of 22 patients, a diagnosis of indolent mastocytosis could be established, and 1 patient had a monoclonal MC activation syndrome. Patients with mastocytosis had higher SBT levels ( P = .03) but only rarely had angioedema/urticaria associated with hypotension ( P = .004). Conclusions The absence of urticaria or angioedema in severe reactions to Hymenoptera stings with hypotension might represent the most relevant factor in identifying patients with mastocytosis, regardless of their serum tryptase levels.
Background Indolent systemic mastocytosis (ISM) without skin lesions (ISMs− ) shows a higher prevalence in males, lower serum baseline tryptase levels, and KIT mutation more frequently restricted to ...bone marrow (BM) mast cells (MCs) than ISM with skin lesions (ISMs+ ). Interestingly, in almost one-half of ISMs− patients, MC-mediator release episodes are triggered exclusively by insects. Objective We aimed to determine the clinical and laboratory features of ISMs− associated with insect-induced anaphylaxis (insectISMs− ) versus other patients with ISM. Methods A total of 335 patients presenting with MC activation syndrome, including 143 insectISMs− , 72 ISMs− triggered by other factors (otherISMs− ), 56 ISMs+ , and 64 nonclonal MC activation syndrome, were studied. Results Compared with otherISMs− and ISMs+ patients, insectISMs− cases showed marked male predominance (78% vs 53% and 46%; P < .001), a distinct pattern of MC-related symptoms, and significantly lower median serum baseline tryptase levels (22.4 vs 28.7 and 45.8 μg/L; P ≤ .009). Moreover, insectISMs− less frequently presented BM MC aggregates (46% vs 70% and 81%; P ≤ .001), and they systematically showed MC-restricted KIT mutation. Conclusions ISMs− patients with anaphylaxis triggered exclusively by insects display clinical and laboratory features that are significantly different from other ISM cases, including other ISMs− and ISMs+ patients, suggesting that they represent a unique subgroup of ISM with a particularly low BM MC burden in the absence of adverse prognostic factors.
Predicting factors identified patients with dupilumab who could benefit of dose spacing or treatment withdrawal.
Dupilumab is a monoclonal antibody against the IL-4/IL-13 receptor-subunit approved ...for the treatment of moderate-severe atopic dermatitis (AD). Some attempts to increase dose interval have been described in both trial and real-world settings.
This study aimed to identify predictive clinical and demographic factors affecting patient selection for dose spacing or treatment withdrawal due to satisfactory response.
This retrospective study included adult patients with moderate-to-severe AD treated with dupilumab for at least 16 weeks. Descriptive statistics were performed to analyze demographic and clinical variables. Logistic regression models were used to identify predictor variables.
A total of 818 adult patients with moderate-to-severe AD was included in the study and 12% (97/818) of them performed dose spacing to 3-4 weeks or treatment withdrawal (8%, 67/818). The presence of non-cutaneous atopic manifestations (OR = 1.59, 95%CI = 1.06-2.38, p = 0.024), prurigo nodularis phenotype (OR = 4.5, 95%CI = 1.87-10.9, p = 0.001) and the age at treatment initiation (OR = 1.82, 95%CI = 1.12-2.94, p = 0.015) were confirmed as the strongest predictors of dose spacing or treatment withdrawal while maintaining dupilumab effectiveness.
Our findings contribute to define the patient profile that could maintain the therapeutic response after dose spacing or treatment withdrawal.
Background Histiocytoid Sweet syndrome (HSS) is a rare variant of Sweet syndrome (SS). The nature of histiocytoid cells is still uncertain. Objective We sought to offer a comprehensive overview on ...clinical features of HSS and further information on immunohistochemical phenotype of the infiltrate. Methods The clinical, histologic, and immunohistochemical features of 12 of our patients with HSS and all cases retrieved through a PubMed search were analyzed. Results Lesions consisted of erythematous-violaceous papules and plaques, randomly distributed mostly on the trunk and the limbs. Three patients had myelodysplastic syndrome and 1 had a monoclonal gammopathy. The infiltrate was mainly composed of CD68+ CD163+ myeloperoxidase+ myeloid cell nuclear differentiation antigen+ CD117− CD15− CD34− , a phenotype suggestive of M2-like macrophages. A few mature neutrophils and lymphocytes were also present. Review of all HSS cases showed no sex predominance and no extracutaneous infiltrates; inconstant presence of fever and blood neutrophilia; association with hematologic or solid neoplasms (26%), autoimmune conditions (12%), and infectious diseases (10%); and good response to steroid treatment, with rare relapses or recurrences. Limitations The study includes a limited case series. The pathogenesis of the disease remains to be clarified. Conclusions HSS lesions are infiltrated mostly by M2-like macrophages. The clinical features present more similarities than differences with SS.
Cantú syndrome, or hypertrichotic osteochondrodysplasia, is a rare autosomal dominant disease characterized by congenital hypertrichosis, characteristic dysmorphisms, skeletal abnormalities and ...cardiomegaly. We report on a 7‐year‐old girl with congenital generalized hypertrichosis, coarse facial appearance and cardiac involvement, with a de novo heterozygous mutation (c.3461G > A) in the ABCC9 gene. During the annual cardiac follow‐up at the age of nine the echocardiogram showed mild left ventricular dilatation in consideration of which she started ramipril treatment. The progression of the clinical manifestations of Cantú syndrome highlights the relevance of an early diagnosis, including genetic analysis, and a multidisciplinary approach with long‐term follow‐up.
Cantú syndrome is a rare autosomal dominant disease with a marked clinical variability that can cause diagnostic and therapeutic delay. The progression of the clinical manifestations of Cantú syndrome, including the cardiac involvement, highlights the relevance of an early diagnosis with long‐term follow‐up and a multidisciplinary approach.
Dupilumab has been shown to be a safe and effective drug for the treatment of atopic dermatitis (AD) in children from 6 months to 11 years in randomized clinical trials. Aim: The aim of this ...real-life study was to determine the effectiveness in disease control and safety of dupilumab at W52 in moderate-to-severe AD children aged 6-11 years.
All data were collected from 36 Italian dermatological or paediatric referral centres. Dupilumab was administered at label dosage with an induction dose of 300 mg on day 1 (D1), followed by 300 mg on D15 and 300 mg every 4 weeks (Q4W). Treatment effect was determined as overall disease severity, using EASI, P-NRS, S-NRS and c-DLQI at baseline, W16, W24, and W52. Ninety-six AD children diagnosed with moderate-to-severe AD and treated with dupilumab were enrolled.
Ninety-one (94.8%) patients completed the 52-week treatment period and were included in the study. A significant improvement in EASI score, P-NRS, S-NRS and c-DLQI was observed from baseline to weeks 16, 24 and 52.
Our real-life data seem to confirm dupilumab effectiveness and safety in paediatric patients. Moreover, our experience highlighted that patients achieving clinical improvement at W16 preserved this condition over time.
Summary
Background
The evidence on the safety of topical preparations containing botanical extracts is limited.
Objectives
To assess (i) the use of botanically derived compounds in a large ...population, (ii) the incidence of cutaneous side‐effects, and (iii) the diagnostic usefulness of patch testing.
Methods
A questionnaire was used in 2661 patients to assess both the prevalence and type of topical botanical preparations used, and the occurrence of adverse skin reactions. Patients declaring adverse reactions were patch tested with (i) the Italian (SIDAPA) baseline series, (ii) an additional botanical series, and (iii) the patients' own products.
Results
Of the patients, 1274 (48%) reported the use of topical botanical products; 139 patients (11%) commented on adverse cutaneous reactions; 75 (54%) showed positive reactions with the Italian baseline series. Among the 122 patients tested with the botanical series, 19 (16%) showed positive reactions, in many cases with concomitant relevant positivity to at least one allergen of the Italian series connected with cosmetics. The commonest botanically derived allergens were propolis, Compositae extracts, and Melaleuca alternifolia (tea tree) oil.
Conclusions
Contact allergy is a possible adverse effect of natural products. Baseline series supplemented with the commonest botanical allergens may be adequate for detecting most of the cases of contact allergy to natural topical products.
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