Living with Chronic Spontaneous Urticaria in Italy: A Narrative Medicine Project to Improve the Pathway of Patient Care.

Chronic spontaneous urticaria (CSU) is perceived as a difficult to manage disease with negative impact on quality of life. The aim of this study was to highlight how to improve the care of people with CSU, using the methodology of narrative medicine. From June 2014 to March 2015, CSU-diagnosed patients and their physicians were asked to record their experiences of the condition in writing. Fourteen healthcare teams participated: 41% considered CSU as a challenge to overcome, while 22% experienced CSU as a big commitment. The number of professional involved was evaluated as insufficient in 11 hospitals. Seventy-five percent of the 190 Italian patients had visited 3 or more physicians before receiving a final diagnosis, with a perceived waste of time and resources. The therapeutic pathways were described as unsatisfactory in 83% of cases. As a result, anger and frustration were life-dominant emotions in 92% of patients. The critical points of the care pathway are related to organizational issues and lack of awareness.

Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.

Autosomal recessive congenital ichthyoses (ARCI) are rare genodermatosis disorders characterized by phenotypic and genetic heterogeneity. At least fourteen genes so far have been related to ARCI; however, despite genetic heterogeneity, phenotypes associated with mutation of different ARCI genes may overlap, thereby making difficult their clinical and molecular classification. In addition, molecular tests for diagnosis of such an extremely rare heterogeneous inherited disease are not easily available in clinical settings. In the attempt of identifying the genetic cause of the disease in four Italian patients with ARCI, we performed next-generation sequencing (NGS) analysis targeting 4811 genes that have been previously linked to human genetic diseases; we focused our analysis on the 13 known ARCI genes comprised in the panel. Nine different variants including three novel small nucleotide changes and two novel large deletions have been identified and validated in the ABCA12, ALOX12B, CYP4F22, and SULT2B1 genes. Notably, two patients had variants in more than one gene. The identification and validation of new pathogenic ABCA12, ALOX12B, CYP4F22, and SULT2B1 variants through multi-gene NGS in four cases of ARCI further highlight the importance of these genes in proper skin function and development.

Socio-economic burden and resource utilisation in Italian patients with chronic urticaria: 2-year data from the AWARE study.

INTRODUCTION: In Italy, the real-world evidence on the extent of adherence to guidelines and the benefits of recommended therapeutic medications and their impact on the quality of life (QoL) of H1-antihistamines (H1-AH) refractory chronic urticaria (CU) patients is limited. METHODS: AWARE (A World-wide Antihistamine-Refractory chronic urticaria patient Evaluation) was a global prospective, non-interventional study of CU in real-world setting which included patients aged ≥18 years with a medically confirmed diagnosed of CU present for more than 2 months. In this study, the disease characteristics, pharmacological treatments and patient-reported outcomes (PROs) are reported. RESULTS: In total, 159 patients from 24 study centres in Italy completed the study. At baseline, 221 (89.5%) and 8 (3.2%) patients had chronic spontaneous urticaria (CSU) and chronic inducible urticaria (CIndU), respectively, while 18 (7.3%) patients had concomitant CSU and CIndU. For CSU patients, mean dermatology life quality index and CU quality of life questionnaire scores reduced to 3.0 ± 4.9 and 14.6 ± 18.6 at Month 24 from baseline scores of 7.5 ± 6.6 and 33.2 ± 19.5, respectively, indicating an improvement in QoL. This was reflected in their work-life as work productivity impairment reduced considerably after 2 years. Only 71.9% CSU patients had a prior treatment, while during the study, 96.8% of the patients were treated with a medication. At baseline, only 52.9% CSU patients reported nonsedating H1-antihistamines as first-line of treatment in prior medication, this increased to 89.6% during current medication. CONCLUSION: This study shows that CSU has a considerable socio-economic burden and an improvement in QoL can be achieved in CSU patients if an appropriate therapeutic path is followed.

A multicenter retrospective case-control study on Suspension of TNF-inhibitors and Outcomes in Psoriatic patients (STOP study).

BACKGROUND: There is limited information on patients undergoing withdrawal after long-term treatment with anti-TNF alpha drugs and their clinical evolution during the post-interruption period in real-life settings. The purpose of the present retrospective case-control study was to provide a clearer insight into the clinical management of psoriatic patients with adequate response to long-term adalimumab, etanercept and infliximab treatment once these biologic agents are interrupted. METHODS: A total of 270 patients undergoing anti-TNF alpha agents discontinuation and 253 controls treated with a continuous regimen were enrolled. The primary endpoint was the change in disease activity in each study group over six months (or until treatment of psoriatic recurrence) as measured by the PASI score every month. Then, we evaluated the rate of and time to relapse, the rate of clinical worsening (PASI≥5) and the clinical variables influencing the loss of response. RESULTS: Our study showed that about 50% of patients achieving a long-term and optimal response to the aforementioned anti-TNF alpha agents did not experience any relapse over a 6-month follow-up period after withdrawal. We also observed that subjects displaying a complete remission (PASI=0) at anti-TNF alpha therapy withdrawal experienced less frequently disease worsening and/or relapse compared to subjects having a PASI>0. CONCLUSIONS: Our findings confirmed that all three anti-TNF alpha agents tend to retain their effectiveness upon re-administration in case of recurrence, even if they have been previously used for long time.

Dermoscopy of nail fold and elbow in the differential diagnosis of early psoriatic arthritis sine psoriasis and early rheumatoid arthritis.

Differentiation between psoriatic arthritis (PsA) sine psoriasis and rheumatoid arthritis (RA) may be a challenge, especially in the early stages, hence the need for new instrumental markers to assist their diagnosis. In this study, we investigated possible dermoscopic differences in vascular appearance of nail fold and elbow (a classic site of repeated trauma) in these two conditions. Fifteen patients with PsA sine psoriasis, 12 patients with RA and 12 controls were included in the study. Regarding the nail fold vascular appearance in PsA sine psoriasis and RA cohorts, the presence of diffuse reddish background with or without sparse dotted vessels was significant in the former, whereas the evidence of parallel dotted/short linear vessels ("fish school-like" pattern) or irregular/ramified, blurry, purple vessels were significant in the latter; none of these patterns were detected in the control group. Regarding the elbow, the pattern significantly associated with PsA sine psoriasis consisted of diffusely distributed, red, dotted vessels. On the other hand, RA patients and controls displayed similar dermoscopic findings, with three possible vascular patterns being observed: (i) irregular, blurry, purple vessels; (ii) avascular appearance; and (iii) sparse, dotted, purple vessels. In conclusion, dermoscopy may be a useful supportive tool for differentiating early PsA sine psoriasis from RA.

Aquagenic keratoderma treated with tap water iontophoresis.

Aquagenic keratoderma (AK) is a rare acquired skin condition characterized by recurrent and transient white papules and plaques associated with a burning sensation, pain, pruritus and/or hyperhidrosis on the palms and more rarely, soles triggered by sweat or contact with water. Often AK cause significant discomfort, thus requiring an appropriate therapy. Topical aluminum-based products are the most commonly used medications, but they are not always effective. We report a case of AK unresponsive to topical 20% of aluminum chloride successfully treated with tap water iontophoresis.

Dermoscopy of prurigo nodularis.

The diagnosis of prurigo nodularis is mainly clinical, based on its distinctive features. However, in some cases it may be difficult to differentiate it from other nodular dermatoses only on the clinical basis, thus requiring histopathological examination to reach a definitive diagnosis. The aim of this study was to describe for the first time the dermoscopic features of prurigo nodularis and the useful contribution of dermoscopy in the differential diagnosis of such dermatoses. Fourteen patients with histopathologically proven prurigo nodularis were included in the study. The results of our study suggest that the detection of a "white starburst pattern" surrounding brown-reddish/brown-yellowish crust(s), erosion(s) and/or hyperkeratosis/scales is a useful clue to support the clinical diagnosis of prurigo nodularis, distinguishing it from the other main differential diagnoses.

Responsiveness of skin metastases to CMF in a patient with urothelial carcinoma of the bladder: a case report.

Skin metastases from urothelial carcinoma of the bladder are uncommon, and there are few cases reported in literature. The present case report describes the results of a combination of cyclophosphamide, methotrexate and 5-fluorouracil (CMF) administered as second-line chemotherapy in a cisplatin-resistant metastatic bladder cancer patient. The improvement in cutaneous lesions and pain reduction obtained prompt further exploration of the activity of this regimen in a second-line approach.

Pedunculated and telangiectatic merkel cell carcinoma: an unusual clinical presentation.

Merkel cell carcinoma (MCC) is an uncommon aggressive neuroendocrine tumor of the skin that classically presents on chronic sun-damaged skin as a skin-colored, red or violaceous, firm and nontender papule or nodule with a smooth and shiny surface. Ulcerations can be observed very seldom and only in very advanced lesions. We present a unique case of a MCC presenting with two unusual clinical features: The Telangiectatic surface and the pedunculated aspect.