Advances in Diagnosis of Skin and Superficial Tissues Disorders—“Old and Emerging” Diagnostic Tools

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 July 2024 | Viewed by 4573

Special Issue Editor


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Guest Editor
1. Pathology Unit, Maggiore Hospital-AUSL Bologna, Bologna, Italy
2. Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy
Interests: skin pathology; skin tumors; melanoma; melanocytic pathology; Merkel cell carcinoma; adnexal tumors; new diagnostic methodologies in skin pathology; immunohistochemistry; molecular pathology

Special Issue Information

Dear Colleagues,

Skin and superficial tissue disorders include an incredibly wide range of pleomorphic pathologic conditions, and their diagnosis often requires the integration of several professional practitioners and the knowledge of “old and emerging” diagnostic tools. This Special Issue is focused on the most recent advancements concerning the diagnosis of skin (inflammatory conditions and/or tumors: melanocytic tumors, keratinocytic tumors, Merkel cell carcinoma, soft tissues tumors, and lymphomas) and superficial soft tissue (hypodermis, fascial elements, etc.) disorders, applying both “old” diagnostic tools such as immunohistochemistry (PRAME, etc.) and molecular techniques (FISH, next-generation sequencing, etc.) and “new” diagnostic tools (ultrasound assessment with high-frequency ultrasound probes and high-level ultrasound machines, line-field confocal optical coherence tomography, etc.). Notably, this Special Issue invites authors to contribute original articles (providing personal experience applied to the diagnosis of specific pathologic conditions), reviews (providing a summary to clarify the state of the art in a specific topic), and technical articles (providing elements for the adoption of these techniques).

Dr. Costantino Ricci
Guest Editor

Manuscript Submission Information

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Keywords

  • melanoma
  • melanocytic pathology
  • Merkel cell carcinoma
  • adnexal tumors
  • anatomy of the skin
  • histology of the skin
  • molecular pathology
  • next-generation sequencing
  • immunohistochemistry
  • histology-sonography correlation
  • high-frequency ultrasound probes and high-level ultrasound machines
  • line-field confocal optical coherence tomography

Published Papers (5 papers)

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Research

11 pages, 506 KiB  
Article
Molecular Characterization of Advanced-Stage Melanomas in Clinical Practice Using a Laboratory-Developed Next-Generation Sequencing Panel
by Thais Maloberti, Antonio De Leo, Sara Coluccelli, Viviana Sanza, Elisa Gruppioni, Annalisa Altimari, Francesca Comito, Barbara Melotti, Paola Valeria Marchese, Emi Dika, Federico Venturi, Barbara Corti, Giulia Ciccimarra, Crina Adriana Ciceu, Giovanni Tallini and Dario de Biase
Diagnostics 2024, 14(8), 800; https://doi.org/10.3390/diagnostics14080800 - 11 Apr 2024
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Abstract
Cutaneous melanoma is one of the most lethal tumors among skin cancers, characterized by complex genetic and molecular alterations that result in uncontrolled cell proliferation and metastatic spread. Next-generation sequencing (NGS) enables the simultaneous examination of numerous genes, making this molecular technique essential [...] Read more.
Cutaneous melanoma is one of the most lethal tumors among skin cancers, characterized by complex genetic and molecular alterations that result in uncontrolled cell proliferation and metastatic spread. Next-generation sequencing (NGS) enables the simultaneous examination of numerous genes, making this molecular technique essential for melanoma diagnosis, prognostic stratification, and therapy planning. Herein, we present the experience with our laboratory-designed NGS panel for the routine assessment of advanced-stage melanoma. A total of 260 specimens of advanced-stage melanomas were evaluated utilizing a laboratory-developed multi-gene NGS panel, which allowed the investigation of 229 amplicons in 25 oncogene/oncosuppressor genes. The NGS panel proved to be a reliable tool, failing to produce results in only 1.2% of the samples tested. BRAF and TERT were the two more commonly altered genes in 44.0% and 59.9% of samples, respectively. In 59.3% of the mutated cases, at least two concomitant variants were detected. In eight cases, both primary lesion and metastatic disease were analyzed by NGS. In all specimens (8/8, 100%), a perfect concordance in variants harbored by the primary and recurrence lesions was observed. Finally, this study described the validity of a laboratory-developed multi-gene NGS panel built specifically for advanced-stage melanomas in ordinary clinical practice. Full article
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32 pages, 17408 KiB  
Article
An Improved Skin Lesion Classification Using a Hybrid Approach with Active Contour Snake Model and Lightweight Attention-Guided Capsule Networks
by Kavita Behara, Ernest Bhero and John Terhile Agee
Diagnostics 2024, 14(6), 636; https://doi.org/10.3390/diagnostics14060636 - 17 Mar 2024
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Abstract
Skin cancer is a prevalent type of malignancy on a global scale, and the early and accurate diagnosis of this condition is of utmost importance for the survival of patients. The clinical assessment of cutaneous lesions is a crucial aspect of medical practice, [...] Read more.
Skin cancer is a prevalent type of malignancy on a global scale, and the early and accurate diagnosis of this condition is of utmost importance for the survival of patients. The clinical assessment of cutaneous lesions is a crucial aspect of medical practice, although it encounters several obstacles, such as prolonged waiting time and misinterpretation. The intricate nature of skin lesions, coupled with variations in appearance and texture, presents substantial barriers to accurate classification. As such, skilled clinicians often struggle to differentiate benign moles from early malignant tumors in skin images. Although deep learning-based approaches such as convolution neural networks have made significant improvements, their stability and generalization continue to experience difficulties, and their performance in accurately delineating lesion borders, capturing refined spatial connections among features, and using contextual information for classification is suboptimal. To address these limitations, we propose a novel approach for skin lesion classification that combines snake models of active contour (AC) segmentation, ResNet50 for feature extraction, and a capsule network with a fusion of lightweight attention mechanisms to attain the different feature channels and spatial regions within feature maps, enhance the feature discrimination, and improve accuracy. We employed the stochastic gradient descent (SGD) optimization algorithm to optimize the model’s parameters. The proposed model is implemented on publicly available datasets, namely, HAM10000 and ISIC 2020. The experimental results showed that the proposed model achieved an accuracy of 98% and AUC-ROC of 97.3%, showcasing substantial potential in terms of effective model generalization compared to existing state-of-the-art (SOTA) approaches. These results highlight the potential for our approach to reshape automated dermatological diagnosis and provide a helpful tool for medical practitioners. Full article
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13 pages, 5589 KiB  
Article
From Histopathology to High-Resolution Ultrasound Imaging of Skin Scars
by Vincenzo Ricci, Giulio Cocco, Danilo Donati, Giacomo Farì, Ke-Vin Chang and Levent Özçakar
Diagnostics 2023, 13(24), 3629; https://doi.org/10.3390/diagnostics13243629 - 08 Dec 2023
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Abstract
Nowadays, modern ultrasound machines and high-frequency transducers allow us to accurately assess the superficial soft tissues of the human body. In this sense, sonographic evaluation of the skin and related pathologies is progressively growing in the pertinent literature. To the best of our [...] Read more.
Nowadays, modern ultrasound machines and high-frequency transducers allow us to accurately assess the superficial soft tissues of the human body. In this sense, sonographic evaluation of the skin and related pathologies is progressively growing in the pertinent literature. To the best of our knowledge, a standardized sonographic protocol focused on the assessment of pathological skin scars is still lacking. As such, the main purpose of the present study was to propose a technical guide to sonographically assess skin scars in the daily practice of clinicians—starting from knowledge on their histopathological features. In order to standardize the ultrasound examination, a superficial-to-deep, layer-by-layer approach has been proposed to optimize its reproducibility and to promote a common language among the different healthcare providers. Full article
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11 pages, 3344 KiB  
Article
Line-Field Confocal Optical Coherence Tomography Evaluation of Eyelid Skin Lesions
by Alessandro Di Stefani, Simone Cappilli, Giovanni Cuffaro, Bruno Fionda, Monica Maria Pagliara, Andrea Paradisi, Costantino Ricci, Ernesto Rossi, Maria Grazia Sammarco, Giovanni Schinzari, Luca Tagliaferri, Maria Antonietta Blasi, Elisa Cinotti, Alessandro Moro, Gustavo Savino, Mariano Suppa and Ketty Peris
Diagnostics 2023, 13(23), 3590; https://doi.org/10.3390/diagnostics13233590 - 03 Dec 2023
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Abstract
Background: Periocular malignancies may be clinically different from the examples arising at other sites, with possible delayed diagnosis and greater challenges for treatment and repair. Line-field confocal optical coherence tomography (LC-OCT) is a recently developed technique characterized by an unprecedented capacity to acquire [...] Read more.
Background: Periocular malignancies may be clinically different from the examples arising at other sites, with possible delayed diagnosis and greater challenges for treatment and repair. Line-field confocal optical coherence tomography (LC-OCT) is a recently developed technique characterized by an unprecedented capacity to acquire high-definition images in vertical and horizontal modes. In this study, we aimed to investigate the LC-OCT morphological features of a series of eyelid skin lesions, correlating them to histopathological findings. Methods: Patients with biopsy-proven equivocal skin lesion in the eyelid area, previously investigated by means of LC-OCT, were included in the study. Percentage overall agreement was estimated for LC-OCT and histopathological diagnosis for study cases. Results: A total of 51 patients (28 women, 23 men; mean age 66.4 years old), for a total of 51 skin lesions, were assessed. The histopathological diagnosis consisted of 30 malignant and 21 benign tumors. Different entities were characterized by peculiar findings in LC-OCT, alike to histopathological features, allowing for an accurate “in vivo” classification in almost all cases, with a diagnostic concordance with histopathology of 92.1% (47/51). Conclusions: By integrating this new imaging technique into the assessment of suspicious tumors in this area, diagnostic accuracy may increase, improving strategies adopted in multidisciplinary meetings and patient-centered care. Full article
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12 pages, 3866 KiB  
Article
High-Frequency Ultrasound Imaging to Distinguish High-Risk and Low-Risk Dermatofibromas
by Danhua Li, Feiyue Yang, Yang Zhao, Qiao Wang, Weiwei Ren, Liping Sun, Dandan Shan and Chuan Qin
Diagnostics 2023, 13(21), 3305; https://doi.org/10.3390/diagnostics13213305 - 25 Oct 2023
Viewed by 1070
Abstract
Background: Dermatofibroma has various pathological classifications, some of which pose a risk of recurrence and metastasis. Distinguishing these high-risk dermatofibromas based on appearance alone can be challenging. Therefore, high-frequency ultrasound may provide additional internal information on these lesions, helping to identify high-risk and [...] Read more.
Background: Dermatofibroma has various pathological classifications, some of which pose a risk of recurrence and metastasis. Distinguishing these high-risk dermatofibromas based on appearance alone can be challenging. Therefore, high-frequency ultrasound may provide additional internal information on these lesions, helping to identify high-risk and low-risk dermatofibroma early. Methods: In this retrospective study, 50 lesions were analyzed to explore the correlation between clinical and high-frequency ultrasound features and dermatofibroma risk level. Based on their pathological features, the lesions were divided into high-risk (n = 17) and low-risk (n = 33) groups. Subsequently, an identification model based on significant high-frequency ultrasound features was developed. Results: Significant differences were observed in the thickness, shape, internal echogenicity, stratum basal, and Doppler vascular patterns between the high-risk and low-risk groups. The median lesion thickness for the high-risk dermatofibroma group was 4.1 mm (IQR: 3.2–6.1 mm), while it was 3.1 mm (IQR: 1.3–4.2 mm) for the low-risk dermatofibroma group. In the high-risk dermatofibroma group, irregular morphology was predominant (70.6%, 12/17), the most common being dermis-to-subcutaneous soft tissue penetration (64.7%, 11/17), and heterogenous internal echogenicity was observed in the majority of cases (76.5%, 13/17). On the other hand, regular morphology was more prevalent in the low-risk dermatofibroma group (78.8%, 26/33), primarily limited to the dermis layer (78.8%, 26/33), with homogeneous internal echogenicity also being prevalent in the majority of cases (81.8%, 27/33). Regarding the Doppler vascularity pattern, 69.7% (23/33) of low-risk dermatofibromas had no blood flow, while 64.7% (11/17) of high-risk dermatofibromas had blood flow. Conclusion: High-frequency ultrasound is crucial in distinguishing high-risk and low-risk dermatofibromas, making it invaluable for clinical management. Full article
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Planned Papers

The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.

Title: A laboratory developed multi-gene NGS panel for molecular characterization of melanoma
Authors: De Biase et al.
Affiliation: University of Bologna

Title: Mycosis fungoides diagnostic tools: state of the art and future prospect
Authors: Pileri et al.
Affiliation: Alma Mater Studiorum Università di Bologna

Title: Line-field confocal optical coherence tomography for tumors of eyelid margin and periocular area: fast diagnosis with a “virtual histology
Authors: Simone et al.
Affiliation: Fondazione Policlinico Universitario A. Gemelli – IRCCS

Title: The role of modern high-end ultrasound machines in assessing skin scars
Authors: Ricci et al.
Affiliation: Istituto di Ricovero e Cura a Carattere Scientifico Rizzoli Orthopedic Institute

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