Pyoderma gangrenosum associated with pseudo-PelgerHuët anomaly in a patient with idiopathic myelofibrosis

Pseudo-Pelger-Huët anomaly is a condition in which almost all the granulocytes are hyposegmented and/or hypogranulated. It is typically recognized in peripheral blood smears and represents a marker of several disorders, such as myeloproliferative diseases and myelodysplasia. The occurrence of the pseudoPelger-Huët anomaly in the cutaneous infiltrate of pyoderma gangrenosum is very rare. We describe the case of a 70-year-old man with idiopathic myelofibrosis who developed pyoderma gangrenosum. Histological examination showed an infiltrate consisting of granulocytic elements with features of dysmaturity and segmentation anomalies (hypo- and hypersegmented forms), suggestive of pseudo-Pelger-Huët anomaly. Methylprednisolone treatment resulted in progressive improvement of pyoderma gangrenosum

Cantú syndrome: A new case and evolution of clinical conditions during first 2-year follow-up

: 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

Long‑term Effectiveness and Safety of Upadacitinib for Atopic Dermatitis in a Real‑world Setting: An Interim Analysis Through 48 Weeks of Observation

Background Janus kinase (JAK) inhibitors, including upadacitinib, have been recently approved for the treatment of moderate- severe atopic dermatitis (AD) and real-world data on upadacitinib effectiveness and safety are limited. This interim analysis aimed to assess effectiveness and safety of upadacitinib throughout 48 weeks of observation in a real-world adult AD population. Methods This prospective study collected data on adult patients affected by moderate-to-severe AD and treated with upadacitinib at the dosage of either 15 mg or 30 mg daily based on the physician decision. Upadacitinib was prescribed in the context of a national compassionate use programme. In this interim analysis, within patient comparisons of continuous scores of different scales (namely Eczema Area and Severity Index [EASI], body surface area [BSA], Dermatology Life Quality Index [DLQI], Patient Oriented Eczema Measure [POEM], Numeric Rating Scale [NRS] subtests) were performed. The percentage of patients achieving EASI 75, EASI 90 and EASI 100 at Week 16, 32 and 48 was also evaluated. Results One hundred and forty-six patients were included in the analysis. Upadacitinib 15 mg or 30 mg daily was prescribed as monotherapy in most cases (127/146, 87.0%). Upadacitinib was initially prescribed at the dosage of 30 mg daily in 118 of 146 (80.8%) patients and 15 mg daily in 28/146 (19.2%) patients. A significant improvement in the clinical signs and symptoms of AD was detected by Week 16 and throughout the study period. EASI 75, EASI 90 and EASI 100 responses were achieved by 87.6%, 69.1% and 44.3% at Week 48, associated with a sustained reduction in the mean values of all physicianreported (EASI and BSA) and patient-reported (Itch- Sleep- and Pain-NRS, DLQI, and POEM) disease severity outcomes, up to 48 weeks of treatment. Treatment response observed in 15 mg upadacitinib-treated patients was comparable with that detected in 30 mg upadacitinib-treated patients, revealing no statistical difference between the two patient sub-cohorts. Through the observation period, dose reduction or escalation was observed in 38/146 (26%) of treated cases. Overall, 26 of 146 (17.8%) patients experienced at least one adverse event (AE) during the treatment period. In total, 29 AEs were recorded and most of them were evaluated as mild to moderate, while in 4 cases the occurrence of AE led to drug discontinuation, for a total of 7/146 (4.8%) dropouts. Conclusion This study provides strong evidence of a sustained response obtained by upadacitinib in AD patients, who had failed to respond to conventional or biological systemic agents, through 48 weeks of observation. Upadacitinib was also demonstrated to be advantageous in terms of flexibility in dose reduction or escalation as upadacitinib dose was shaped on clinical needs that, in a real-world setting, might frequently change

AtopyReg®, the Prospective Italian Patient Registry for Moderate‐to‐Severe Atopic Dermatitis in Adults: Baseline Demographics, Disease Characteristics, Comorbidities, and Treatment History

Background and Objective AtopyReg® is a multicenter, prospective, observational, non-profit cohort study on moderate-tosevere atopic dermatitis in adults promoted in 2018 by the Italian Society of Dermatology and Venereology (SIDeMaST). We aimed to describe baseline demographics, disease characteristics, comorbidities, and therapeutic data of adult patients affected by moderate-to-severe atopic dermatitis. Methods Patients were selected based on the following inclusion criteria: age ≥ 18 years; Eczema Area and Severity Index score ≥ 16 or localization in visible or sensitive areas (face, neck, hands, or genitalia), or a Numeric Rating Scale itch score ≥ 7 or a Numeric Rating Scale sleep loss score ≥ 7, or a Dermatology Life Quality Index score ≥ 10. Demographic and clinical data at baseline were recorded and analyzed. Results A total of 1170 patients (male 51.1%; mean age: 44.7 years; range 18–90 years) were enrolled by 12 Italian Dermatology Units between January 2019 and November 2022. Skin lesions were eczematous in 83.2% of patients, the most involved site were the flexures (53.9%), face (50.9%), and neck (48.0%). Mean Eczema Area and Severity Index score was 22.3, mean Dermatology Life Quality Index value was 17.6, mean Patient Oriented Eczema Measure score was 13.1, and mean Numeric Rating Scale itch and sleep loss scores were 7.6 and 5.9, respectively. Previous systemic therapies were corticosteroids in 77.7% of patients, antihistamines in 50.3% of patients, and cyclosporine A in 42.6% of patients. Conclusions This baseline data analysis deriving from AtopyReg ® provides real-life evidence on patients with moderateto- severe atopic dermatitis in Italy confirming the high burden of atopic dermatitis with a significant impact on patients’ quality of life

Association between short-term exposure to environmental air pollution and atopic dermatitis flare in patients treated with dupilumab

Background: The magnitude of short/medium-term air pollution exposure on atopic dermatitis (AD) flare has not been fully investigated. The aim of the study was to investigate the association of short/mediumterm exposure to airborne pollution on AD flares in patients treated with dupilumab. Methods: Observational case-crossover study. Patients with moderate-to-severe AD under treatment with dupilumab were included. The exposure of interest was the mean concentrations of coarse and fine particulate matter (PM10, PM2.5), nitrogen dioxide, and oxides (NO2, NOx). Different intervals were considered at 1 to 60 days before the AD flare and control visit, defined as the visit with the highest Eczema Area and Severity Index scores [8 and #7, respectively. A conditional logistic regression analysis adjusted for systemic treatments was employed to estimate the incremental odds (%) of flare every 10 g/m3 pollutant concentration. Results: Data on 169 of 528 patients with AD having 1130 follow-up visits and 5840 air pollutant concentration measurements were retrieved. The mean age was 41.4 6 20.3 years; 94 (55%) men. The incremental odds curve indicated a significant positive trend of AD flare for all pollutants in all time windows. At 60 days, every 10 g/m3 PM10, PM2.5, NOx, and NO2 increase concentration was associated with 82%, 67%, 28%, and 113% odds of flare, respectively. Conclusions: In patients treated with dupilumab, acute air pollution exposure is associated with an increased risk for AD flare with a dose-response relationship

An Italian multicentre study on adult atopic dermatitis: persistent versus adult-onset disease.

Atopic dermatitis (AD) is a chronic, recurrent, inflammatory skin disease which predominantly affects children. However, AD may persist until adulthood (persistent AD), or directly start in adults (adult-onset AD). AD often shows a non-flexural rash distribution, and atypical morphologic variants in adults and specific diagnostic criteria are lacking. Moreover, adult AD prevalence as well as detailed data which can characterize persistent vs adult-onset subtype are scant. The aim of this study was to investigate on the main features of adult AD particularly highlighting differences between persistent vs adult-onset form. An Italian multicentre observational study was conducted between April 2015-July 2016 through a study-specific digital database. 253 adult AD patients were enrolled. Familiar history of AD was negative in 81.0%. Erythemato-desquamative pattern was the most frequent clinical presentation (74.3%). Flexural surface of upper limbs was most commonly involved (47.8%), followed by eyelid/periocular area (37.9%), hands (37.2%), and neck (32%). Hypertension (7.1%) and thyroiditis (4.3%) were the most frequent comorbidities. A subgroup analysis between persistent (59.7%) vs adult-onset AD patients (40.3%) showed significant results only regarding AD severity (severe disease was more common in persistent group, p < 0.05), itch intensity (higher in adult-onset disease), and comorbidities (hypertension was more frequent in adult-onset group, p < 0.01). Adult AD showed uncommon features such as significant association with negative AD family history and lacking of association with systemic comorbidities respect to general population. No significant differences among persistent vs adult-onset subgroup were registered except for hypertension, itch intensity, and disease severity

Assessment of Exercise Stroke Volume and Its Prediction From Oxygen Pulse in Paralympic Athletes With Locomotor Impairments: Cardiac Long-Term Adaptations Are Possible

The determinants of cardiac output (CO) during exercise, i.e., stroke volume (SV) and heart rate (HR), could differ in Paralympic athletes (PAthl) with spinal cord injury (SCI) with respect to PAthl with locomotor impairments caused by different health conditions (HCs). The purposes of the present study were the comparisons of two groups of PAthl, one with SCI and the other with either amputation (AMP) or post poliomyelitis syndrome (PM), assessing the (1) peak cardiorespiratory responses and determinants (SV and HR) of CO during maximal and submaximal arm cranking exercise (ACE), respectively; (2) correlations between peak oxygen uptake (VO2peak) and the highest SV obtained during submaximal exercise; and (3) correlations between oxygen pulse (O-2 pulse, ratio between VO2 and HR) and both SV and O-2 arterio-venous difference [(a-v)O(2)diff]. Each athlete (19 PAthl with SCI, 9 with AMP, and 5 with PM) completed a continuous incremental cardiopulmonary ACE test to volitional fatigue to assess peak responses. In a different session, CO was indirectly measured through carbon dioxide (CO2) rebreathing method at sub-maximal exercise intensities approximating 30, 50, and 70% of the VO2peak. There were no significant differences between the PAthl groups in age, anthropometry, and VO2peak. However, peak HR was significantly lower, and peak O-2 pulse was significantly higher in PAthl with AMP/PM compared to those with SCI. During sub-maximal exercise, PAthl with AMP/PM displayed significantly higher SV values (154.8 +/- 17.60 ml) than PAthl with SCI (117.1 +/- 24.66 ml). SV correlated significantly with VO2peak in both PAthl with SCI (R-2 = 0.796) and AMP/PM (R-2 = 0.824). O-2 pulse correlated significantly with SV in both PAthl with SCI (R-2 = 0.888) and AMP/PM (R-2 = 0.932) and in the overall sample (R-2 = 0.896). No significant correlations were observed between O-2 pulse and (a-v)O(2)diff. It was concluded that in PAthl with different HCs: (1) significant differences, as a consequence of the different HC, exist in the determinants of CO at maximal and submaximal ACE; (2) SV is a significant determinant of VO2peak, suggesting cardiac adaptations possible also in PAthl with SCI; and (3) SV can be predicted from O-2 pulse measurements during submaximal exercise in both groups of PAthl

Survival, efficacy and safety of tralokinumab after 32 and 52 weeks of treatment for moderate-to-severe atopic dermatitis in adults: A multicentre real-world study

, efficacy and safety of tralokinumab after 32 and 52weeks of treatment for moderate-to-severe atopic dermatitis in adults: A multicentre real-world stud

Familial occurrence of systemic and cutaneous mastocytosis in an adult multicentre series

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