Publications by authors named "Alessandro Di Stefani"

Systemic therapy with hedgehog pathway inhibitors (HHIs) and anti-programmed cell death protein 1 (PD-1) antibodies represent the first- and second-line treatment options for advanced basal cell carcinoma (aBCC), respectively. A shift in the treatment paradigms toward the neoadjuvant approach is gaining increasing interest in aBCC management, whereby prior systemic therapy followed by surgery is likely to yield more favorable outcomes. The aim of this narrative review is to summarize the current evidence on systemic treatment options and the neoadjuvant approach for aBCC management.

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/: Long-term outcome data of locally advanced basal cell carcinoma patients who achieve complete response (CR) on hedgehog pathway inhibitors (HHIs) are lacking, highlighting a gap in the identification of the predictors of tumor recurrence. We aimed to investigate the clinical and histological factors associated with locally advanced BCC recurrence after CR on HHIs. : We performed a retrospective multicenter observational study at 14 Italian tertiary referral centers (1 January 2016-1 March 2024).

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Introduction: Skin cancer prevention campaigns aim to reduce modifiable risk factors, yet high-risk groups often maintain inadequate protection practices.

Objectives: This study analyzed data from Italy's 2023 "Save Your Skin" campaign, which provided free skin checks nationwide.

Methods: Data from 1,773 participants across 29 centers in 13 regions were collected to assess sun exposure, photoprotection habits, and skin cancer awareness, identifying gaps in prevention efforts.

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Background: Hedgehog pathway inhibitors, including sonidegib and vismodegib, represent the treatment strategy for 'difficult-to-treat' basal cell carcinoma (BCC), encompassing, among others, locally advanced (laBCC) and metastatic BCC. Assessment of therapy response is challenging due to the presence of telangiectasia and scar tissue at the area of the BCC lesion. Line-field confocal optical coherence tomography (LC-OCT) is a new noninvasive imaging technique that provides high-resolution visualization of skin structures.

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Sonidegib is a Hedgehog pathway inhibitor (HHI) used as a first-line systemic treatment for patients with advanced basal cell carcinoma (aBCC). Alopecia is reported as a frequent adverse event (AE), occurring in 49% of patients. Forty-five patients with aBCC were treated with sonidegib between December 2022 and December 2023; among them, 11/45 patients developed alopecia.

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Background: Targeted and immune therapies have recently been associated with the occurrence of multiple cutaneous toxicities, often challenging to differentiate by clinical examination alone without histology. Line-field confocal optical coherence tomography (LC-OCT) is a non-invasive and innovative imaging technique that has been shown to be almost as effective as histology in diagnosing several skin conditions. Our study aimed to assess the effectiveness of LC-OCT in predicting the clinical evolution of early maculopapular eruptions related to antineoplastic targeted therapy and immunotherapy.

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A 15-year-old boy presented with a yellowish, asymptomatic nodule on the left forearm, which developed in the last year. A diagnosis of juvenile xanthogranuloma was confirmed with histopathology. Line-field confocal optical coherence tomography (LC-OCT), a new skin imaging technique, was performed prior to surgery, showing a strong correspondence with histopathological sections.

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: Acral melanocytic lesions often pose a diagnostic and therapeutic challenge for many clinicians. Reflectance confocal microscopy (RCM) is an imaging technique widely used for the assessment of skin cancers. The aim of this review is to explore the applicability of RCM for the diagnosis of nevi and melanoma on the acral sites.

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Article Synopsis
  • Diagnosing acral melanocytic lesions, like acral nevi and melanoma, can be difficult, and the BRAAFF checklist was developed to assist in this process but hasn't been validated yet.
  • In a study, varying experts diagnosed images of nevi and melanomas using the BRAAFF checklist online, yielding a sensitivity of 92.5% and a specificity of 65.0%, comparable to traditional pattern recognition.
  • The checklist showed varying levels of agreement among raters based on experience, and a simplified version achieved similar sensitivity with slightly lower specificity, suggesting that the BRAAFF checklist is a helpful but not superior diagnostic tool.
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Background: Line-field confocal optical coherence tomography is a novel technology able to reproduce a "virtual biopsy" of the skin. The aim of this review is to explore the application of line-field confocal optical coherence tomography (LC-OCT) in various skin diseases, covering skin cancers, inflammatory and infectious skin diseases, genetic diseases, cosmetic procedures, and less common disorders.

Methods: Study selection was conducted based on LC-OCT and using pertinent MeSh terms, following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines from inception to March 2024; to evaluate the quality and risk of bias of studies, Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) was used.

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Over the past decade, dupilumab, a monoclonal human antibody that inhibits interleukin (IL)-4 and IL-13 signalling, has revolutionized the therapeutic management of moderate-to-severe atopic dermatitis (AD), facilitating long-term control of its signs and symptoms. The aim of this study was to identify histological predictors of the efficacy of dupilumab after 16 weeks of treatment in a cohort of 40 adults with moderate-to-severe AD who had undergone a skin biopsy for diagnostic purposes before treatment initiation. We found that Eczema Area and Severity Index (EASI) 75 and EASI 90 responses at week 16 were significantly associated with perivascular localization [odds ratio (OR) 17.

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Article Synopsis
  • Porokeratosis variants are uncommon skin conditions that can often be misdiagnosed, mimicking more common skin issues.
  • A new technology called line-field confocal optical coherence tomography (LC-OCT) allows for non-invasive imaging of the skin, providing detailed views up to 500µm deep.
  • In a study with 54 patients, LC-OCT showed high reliability in diagnosing porokeratosis variants and identified unique features not visible in traditional histology, suggesting it could help avoid unnecessary biopsies.
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Article Synopsis
  • Acquired reactive perforating collagenosis is a rare skin disorder where abnormal connective tissue pushes through the skin, often linked to systemic diseases like diabetes and chronic kidney disease, or inflammatory skin conditions like atopic dermatitis.
  • The case study focuses on a 35-year-old man who had this condition along with atopic dermatitis and did not respond to typical treatments but achieved complete relief after 12 weeks of dupilumab therapy.
  • Dupilumab, which targets specific cytokines involved in skin inflammation and itching, proved effective in treating both atopic dermatitis and the associated reactive perforating collagenosis in this patient, suggesting it could be a viable treatment option for others with similar conditions.
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Background: Novel oncologic therapies, including epidermal growth factor receptor inhibitors (EGFR-Is) and immune checkpoint inhibitors (ICIs), are associated with a new spectrum of adverse reactions, with prominent cutaneous toxicities. The impact of cutaneous adverse events (cAEs) on patients' quality of life (QoL) represents an unmet clinical need.

Objectives: The aims of this study were (1) to assess whether cutaneous toxicities directed therapies are effective in reducing the QoL burden via the submission of 2 patient reported outcome measures (PROMs); (2) to investigate whether class of oncologic therapy, type of cAE and toxicity severity differently impact on patients' QoL.

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: Dermatofibrosarcoma protuberans (DFSP) is a superficial soft tissue sarcoma, and surgical excision is the first-line treatment. The aim of this systematic review is to provide an update about the current indications and clinical results regarding the use of postoperative radiotherapy in DSFP, considering both adjuvant and salvage setting. : We conducted a systematic literature review using the main scientific database, including Cochrane library, Scopus, and PubMed, for any relevant article about the topic, and we considered all available papers without any time restriction.

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Introduction: Pigmentation of lip and/or genitalia is mainly due to the development of benign melanotic macules, with a less occurrence of melanocytic and other non-melanocytic lesions. Mucosal melanoma has worse prognosis compared with cutaneous counterpart, hence identification of atypical features for an early diagnosis is crucial.

Objectives: The aim of this study was to report further data of confocal features characterizing pigmented mucosal lesions of genital area and of the lips and test the diagnostic role of the reflectance confocal microscopy (RCM)lip score.

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Introduction: Basosquamous carcinoma is an uncommon subtype of basal cell carcinoma (BCC), characterized by aggressive local growth and metastatic potential, that mainly develops on the nose, perinasal area, and ears, representing 1.2-2.7% of all head-neck keratinocyte carcinomas.

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