Publications by authors named "Mandel V"

Objectives: Alopecia areata incognita is a non-scarring autoimmune hair loss condition primarily affecting women aged 20 to 40. It is often misdiagnosed due to its resemblance to other conditions. Diagnosis relies on clinical suspicion, trichoscopic findings, and histological features.

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  • Pseudoxanthoma elasticum (PXE) is a rare genetic disease that causes damage to elastic fibers in soft connective tissues, primarily affecting skin and eyes, and is inherited in an autosomal recessive pattern.
  • The study analyzed data from 86 PXE patients in Italy, revealing various genetic mutations and significant cutaneous and ocular symptoms, including skin changes and vision impairment, with additional issues like high blood pressure and liver disease noted.
  • Understanding the characteristics of PXE can help improve patient care and guide the development of better treatment options for those affected by the condition.
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Oral lichen sclerosus (OLS) represents a diagnostic challenge even for expert dermatologists due to its rarity and subtle clinical manifestations. Only few cases have been reported in literature to date. OLS typically presents with whitish macules in the oral cavity.

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Introduction: Recent developments of noninvasive, high-resolution imaging techniques, such as reflectance confocal microscopy (RCM) and optical coherence tomography (OCT), have enhanced skin cancer detection and precise tumor excision particularly in highly aggressive and poorly defined basal cell carcinomas (BCCs).

Objectives: The aim of this pilot study is to assess the feasibility and reproducibility of a systematic clinical workflow combining noninvasive (RCM-OCT) and invasive fluorescence confocal microscopy (FCM) imaging modalities in pre- and intra-surgical evaluations of the lateral and deep margins of BCC.

Methods: Superficial incisions were made 2 mm beyond the clinical-dermoscopic BCC margins.

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  • EIF4A2 variants were found to be linked to dystonic conditions, marking a significant development in understanding the genetic factors behind these disorders.
  • A novel deletion variant of EIF4A2 was discovered in seven patients, resulting in reduced protein levels and abnormal cellular function related to translational regulation.
  • The study suggests that reduced eIF4A2 protein levels affect other molecular components, indicating a complex relationship between EIF4A2 and microRNA-mediated translation, which may contribute to dystonia.
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  • The study investigates the role of DNA methylation in the pathophysiology of idiopathic restless legs syndrome (RLS), aiming to develop a potential biomarker based on blood DNA analysis.
  • Utilizing a large sample size across multiple cohorts, researchers identified numerous significant CpG sites linked to specific genes in both blood and brain tissues, with gene-set analysis revealing connections to neurodevelopmental traits.
  • The proposed epigenetic risk score shows promise with a validation area under the curve (AUC) of 0.70, but further refinement is needed for it to be reliable as a biomarker for RLS.
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  • Advances in dermatology are focusing on improving the accuracy of skin cancer diagnoses through non-invasive techniques.
  • Key technologies being developed include dermoscopy, reflectance confocal microscopy (RCM), and optical coherence tomography (OCT).
  • These methods aim to provide better visualization and assessment of skin lesions, enhancing early detection and potentially improving patient outcomes.
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  • In vivo reflectance confocal microscopy (RCM) is being studied to improve understanding and diagnosis of oral disorders by capturing detailed images of the oral mucosa.
  • A handheld confocal microscope designed for intra-oral imaging helps to identify healthy mucosa and various cytoarchitectural changes in oral lesions.
  • The study analyzed 110 patients with oral lesions and 7 healthy volunteers, categorizing 15 disorders using RCM's distinctive features, ultimately providing a non-invasive diagnostic tool for clinicians.
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Background: Treatment choices for patients with advanced-stage mycosis fungoides (MF) or Sézary syndrome (SS) who have failed first-line systemic therapies can be challenging, as several options are available. However, most evidence is based on observational and early phase studies due to the rarity of the disease. Mogamulizumab has recently been approved for the treatment of adult patients with MF or SS who have received at least one prior systemic therapy; it has a good tolerability profile prompting its use in combination with other agents.

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There is a lack of efficacious topical treatments for patients suffering from psoriatic nail disease (PND). We investigated the efficacy of Calcipotriol-Betamethasone Dipropionate (Cal/BD) foam with and without ablative fractional laser (AFL) in patients with PND. A total of 144 nails from 11 patients were treated in a 24-week long, open-label, randomized, intra-patient controlled proof-of-concept hybrid trial.

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Eccrine poroma (EP) is a rare benign adnexal tumor that may mimic benign or malignant tumors and differential diagnosis may be difficult under clinical and dermoscopic examination. Reflectance confocal microscopy (RCM) examination may add important information to diagnosis and subsequent management of solitary lesions for which dermoscopy can be challenging. The aim of the present study was to investigate features of EP at RCM in order to detect the characteristics that might aid in the differential diagnosis of EP versus other solitary lesions (benign or malignant).

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Gel formulation of chlormethine (CG) has gained a preeminent role among therapies available for mycosis fungoides (MF). To evaluate the frequency of use of CG for MF treatment and to determine the limits and potentialities of CG in a real-world setting. A systematic review of articles published prior to October 2021 was performed.

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Importance: Previous systematic reviews and meta-analyses have concluded that given data paucity, a comparison of reflectance confocal microscopy (RCM) with dermoscopy is complex. They recommend comparative prospective studies in a real-world setting of suspect lesions.

Objective: To test the hypothesis that RCM reduces unnecessary lesion excision by more than 30% and identifies all melanoma lesions thicker than 0.

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  • The study focuses on non-invasive imaging techniques to visualize psoriatic nail unit changes and aims to streamline the diverse terminologies used in this field.
  • It reviews 67 relevant studies, identifying 4 optical and 3 radiological methods for assessing various aspects of nail changes and condensing 244 image feature descriptions into a more concise glossary.
  • The findings suggest that over 75% of the identified imaging features reveal significant disease-related information not captured by standard clinical assessments, potentially enhancing both research and clinical applications.
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Introduction: Frontal fibrosing alopecia (FFA) is a form of primary lymphocytic scarring alopecia characterized by a progressive recession of the fronto-temporal hairline. Although the clinical presentation of FFA is very typical, biopsy for histopathological examination is still recommended to confirm the diagnosis. Currently, a growing number of skin and mucosal inflammatory diseases are diagnosed with modern noninvasive techniques such as dermoscopy without the necessity of a biopsy.

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Androgenic alopecia (AGA) is a common and chronic condition. It may impact self-esteem, self-image and quality of life. Benefit, tolerability, cosmetic acceptance and patient satisfaction are key to ensure good treatment outcome.

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Background/objectives: Non-invasive skin imaging features of main skin inflammatory and autoimmune diseases have been reported, although a comprehensive review of their correlation with histopathologic features is currently lacking. Therefore, the aim of this paper was to review the correlation of dermoscopic, reflectance confocal microscopy (RCM) and optical coherence tomography (OCT) criteria of main inflammatory and autoimmune skin diseases with their corresponding histopathologic criteria correlation.

Methods: Studies on human subjects affected by main inflammatory and autoimmune diseases, defining the correlation of dermoscopic, RCM or OCT with histopathologic criteria, were included in the review.

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Background: Syphilis represents a major public health concern disproportionately affecting HIV positive patients and, in many cases, both infections are newly diagnosed at the same time. To date, limited studies are available on syphilis incidence in patients with a new HIV diagnosis.

Methods: Patients newly diagnosed with HIV in 2010-2018 were included in the study and screening tests for syphilis were performed at baseline and at least once a year.

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Scalp dysaesthesia, considered a variant of the cutaneous dysaesthesia syndrome, is characterized by chronic sensory symptoms, including pruritus, pain, burning and stinging in a well-defined location, without objective findings. Its aetiology is not well elucidated and treatment options are limited, thus it can be challenging and frustrating for both patient and physician. It can be associated with lichen simplex chronicus.

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Reconstruction of large defects of the upper cheek defects still remains a challenge for the surgeon, who can apply different techniques. We present a new method involving the use of a dermal regeneration template to achieve an improved, faster healing of pedicled buccal fat flap in a 75-year-old woman affected by melanoma of the upper-middle cheek. The tumor involved soft tissue, zygomatic arch and periocular fact.

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Background: Digital dermoscopy follow up (DDF) is useful in improving the recognition of melanoma, catching early changes over time, although benign nevi can also show changes. Reflectance confocal microscopy (RCM) improves accuracy in diagnosing melanoma and decreases the number of unnecessary resections.

Objective: To evaluate dynamic dermoscopic and RCM changes during follow up of equivocal melanocytic lesions and assess the impact of adjunctive RCM to DDF for melanoma diagnosis.

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Background: Lentigo maligna (LM) and lentigo maligna-melanoma (LMM) are histotypes of melanoma arising in skin with cumulative solar radiation damage. The extension of atypical melanocytes to the hair follicle (folliculotropism) is a histopathological feature of LM/LMM. Its role has not been totally clarified, but it may be correlated to treatment response in LM or to progression in LMM.

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