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

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

Deadline for manuscript submissions: closed (31 July 2024) | Viewed by 13768

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Dr. Costantino Ricci

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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
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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

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Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

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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

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Published Papers (11 papers)

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Editorial

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3 pages, 170 KiB

Open AccessEditorial

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

by Costantino Ricci

Diagnostics 2024, 14(21), 2414; https://doi.org/10.3390/diagnostics14212414 - 30 Oct 2024

Viewed by 188

Abstract

Skin and superficial tissue disorders (SSTDs) are some of the most common diseases affecting humans [...] Full article

(This article belongs to the Special Issue Advances in Diagnosis of Skin and Superficial Tissues Disorders—“Old and Emerging” Diagnostic Tools)

Research

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19 pages, 10427 KiB

Open AccessArticle

The Usefulness of Line-Field Confocal Optical Coherence Tomography in Monitoring Epidermal Changes in Atopic Dermatitis in Response to Treatment: A Pilot Study

by Zuzanna Dryżałowska, Leszek Blicharz, Agnieszka Michalczyk, Jan Koscian, Małgorzata Maj, Joanna Czuwara and Lidia Rudnicka

Diagnostics 2024, 14(16), 1724; https://doi.org/10.3390/diagnostics14161724 - 8 Aug 2024

Viewed by 850

Abstract

Background: Atopic dermatitis (AD) is the most common chronic inflammatory skin disease. Due to its high prevalence, considerable morbidity, and chronicity, there is a need for the accurate in vivo evaluation of treatment efficacy. Line-field confocal optical coherence tomography (LC-OCT) is a new emerging imaging technique able to perform a non-invasive, real-time examination of the epidermis and the upper dermis. LC-OCT may represent a promising tool in the diagnosis and treatment follow-up of chronic eczematous skin diseases with barrier defects. Objectives: We aimed to investigate the role of LC-OCT in the non-invasive monitoring of the treatment effect on five patients with severe atopic dermatitis during dupilumab treatment. Materials and Methods: LC-OCT imaging was performed on five patients (three women and two men) aged between 14 and 85 years old at the baseline and at 2, 4, and 6 weeks of treatment with dupilumab. The LC-OCT scans were performed at two sites, the lesional skin in the antecubital fossa and the extensor part of the arm, considered a control site on each patient for comparison. The captured images were later evaluated. Descriptive statistics and a t-test were used to compare the analyzed parameters over time and between involved atopic skin and clinically healthy skin. Results: The LC-OCT imaging was able to detect the difference in stratum corneum (SC) thickness and quality and epidermal thickness (ET) and the changes before and after treatment with high accuracy. The main findings include a significant reduction in the epidermal and stratum corneum thickness and decreased epidermal spongiosis and inflammation, with better quality of the stratum corneum indicating restoration of its tightness at both lesional and control sites. Conclusions: This study demonstrates that clinical improvement of affected and unaffected atopic skin under dupilumab treatment correlates with the LC-OCT findings. LC-OCT represents a novel, non-invasive tool examining the in vivo skin barrier and inflammation and can help to monitor the treatment efficacy among patients with atopic dermatitis in daily practice. Full article

(This article belongs to the Special Issue Advances in Diagnosis of Skin and Superficial Tissues Disorders—“Old and Emerging” Diagnostic Tools)

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11 pages, 625 KiB

Open AccessArticle

An Automated Real-Time PCR Assay versus Next-Generation Sequencing in the Detection of BRAF V600 Mutations in Melanoma Tissue Samples

by Daniela Lenders, Irina Bonzheim, Matthias Hahn, Maximilian Gassenmaier, Valentin Aebischer, Andrea Forschner, Max Matthias Lenders, Lukas Flatz and Stephan Forchhammer

Diagnostics 2024, 14(15), 1644; https://doi.org/10.3390/diagnostics14151644 - 30 Jul 2024

Viewed by 748

Abstract

Background: Next-generation sequencing (NGS) is the most commonly used method for determining BRAF mutational status in patients with advanced melanoma. Automated PCR-based methods, such as the Idylla^TM system, are increasingly used for mutation diagnostics, but it is unclear what impact the choice of diagnostic method has on the management of melanoma. Objectives: To compare the concordance rate of BRAF V600 mutational analysis using Idylla^TM and NGS and to analyze the technical and clinical turnaround time. The clinical relevance is compared by analyzing the impact on the treatment decision. Methods: In this monocentric prospective cohort study, the BRAF mutation status of 51 patients was determined using both methods in parallel. Results: BRAF V600 mutation was detected in 23/51 cases (45%). Idylla^TM showed a 100% concordant result with a faster turnaround time (0.2 days) compared to NGS (12.2 days). In general, less tumor material was required for Idylla^TM than for NGS. Most patients received immunotherapy as a first-line therapy regardless of the BRAF V600 status. Conclusions: Idylla^TM testing proved to be a reliable and rapid alternative to NGS in the determination of BRAF V600 mutation. Although BRAF. status was available earlier, this had no influence on the treatment decision in most cases. Full article

(This article belongs to the Special Issue Advances in Diagnosis of Skin and Superficial Tissues Disorders—“Old and Emerging” Diagnostic Tools)

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14 pages, 2032 KiB

Open AccessArticle

Imaging Approach in the Diagnostics and Evaluation of the Psoriasis Plaque: A Preliminary Study and Literature Review

by Mircea Negrutiu, Sorina Danescu, Theodor Popa, Monica Focsan, Stefan Cristian Vesa, Florin Szasz and Adrian Baican

Diagnostics 2024, 14(10), 969; https://doi.org/10.3390/diagnostics14100969 - 7 May 2024

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Abstract

(1) Background: the aim of the study was to demonstrate its usefulness in the field of imaging evaluation of plaque morphology in psoriasis vulgaris, with an emphasis on the use of confocal microscopy and other advanced skin-imaging techniques. (2) Methods: we conducted a prospective study over two years (July 2022–April 2024), on patients diagnosed with moderate or severe psoriasis vulgaris, treated in the dermatology department of our institution. We selected 30 patients, of whom 15 became eligible according to the inclusion and the exclusion criteria. A total of 60 psoriasis plaques were analyzed by dermatoscopy using a Delta 30 dermatoscope and Vidix 4.0 videodermoscope (VD), by cutaneous ultrasound (US) using a high-resolution 20 MHz linear probe, and by confocal microscopy, along with histopathological analysis. (3) Results: the study included fifteen patients with vulgar psoriasis, diagnosed histopathologically, of whom six were women and nine were men, with an average age of 55. Between two and six plaques per patient were selected and a total of sixty psoriasis plaques were analyzed by non-invasive imaging techniques. Twelve lesions were analyzed with ex vivo fluorescence confocal microscopy (FCM), compared to histology. US showed that the hyperechoic band and the lack of damage to the subcutaneous tissue were the most common criteria. The epidermis and dermis were found to be thicker in the area of psoriasis plaques compared to healthy skin. Dermatoscopy showed that the specific aspect of psoriasis plaques localized on the limbs and trunk was a lesion with an erythematous background, with dotted vessels with regular distribution on the surface and covered by white scales with diffuse distribution. The presence of bushy vessels with medium condensation was the most frequently identified pattern on VD. Good correlations were identified between the histological criteria and those obtained through confocal microscopy. (4) Conclusions: the assessment and monitoring of patients with psoriasis vulgaris can be conducted in a more complete and all-encompassing manner by incorporating dermatoscopy, ultrasonography, and confocal microscopy in clinical practice. Full article

(This article belongs to the Special Issue Advances in Diagnosis of Skin and Superficial Tissues Disorders—“Old and Emerging” Diagnostic Tools)

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11 pages, 506 KiB

Open AccessEditor’s ChoiceArticle

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

Cited by 1 | Viewed by 1265

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 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

(This article belongs to the Special Issue Advances in Diagnosis of Skin and Superficial Tissues Disorders—“Old and Emerging” Diagnostic Tools)

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32 pages, 17408 KiB

Open AccessArticle

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

Cited by 2 | Viewed by 1689

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, 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

(This article belongs to the Special Issue Advances in Diagnosis of Skin and Superficial Tissues Disorders—“Old and Emerging” Diagnostic Tools)

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13 pages, 5589 KiB

Open AccessArticle

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 - 8 Dec 2023

Cited by 1 | Viewed by 2111

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 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

(This article belongs to the Special Issue Advances in Diagnosis of Skin and Superficial Tissues Disorders—“Old and Emerging” Diagnostic Tools)

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11 pages, 3344 KiB

Open AccessArticle

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 - 3 Dec 2023

Cited by 3 | Viewed by 1541

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 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

(This article belongs to the Special Issue Advances in Diagnosis of Skin and Superficial Tissues Disorders—“Old and Emerging” Diagnostic Tools)

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12 pages, 3866 KiB

Open AccessArticle

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 1747

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 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

(This article belongs to the Special Issue Advances in Diagnosis of Skin and Superficial Tissues Disorders—“Old and Emerging” Diagnostic Tools)

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11 pages, 1752 KiB

Open AccessSystematic Review

In Vivo Reflectance Confocal Microscopy Applied to Acral Melanocytic Lesions: A Systematic Review of the Literature

by Camilla Chello, Simone Cappilli, Luca Pellegrino, Simone Michelini, Gerardo Palmisano, Giuseppe Gemma, Marisa Salvi, Carmen Cantisani, Alessandro Di Stefani, Ketty Peris and Giovanni Pellacani

Diagnostics 2024, 14(19), 2134; https://doi.org/10.3390/diagnostics14192134 - 25 Sep 2024

Viewed by 682

Abstract

Background: 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. Methods: Study selection was conducted based on the application of RCM for acral melanocytic lesions. All types of articles (original articles, short reports, and single case reports) were included in the analysis following PRISMA updated guidelines. Results: The search retrieved 18 papers according to the selection criteria; after removing duplicate records and additional articles by one or more of the exclusion criteria, a total of seven studies were carefully evaluated. Conclusions: RCM seems a valuable and useful additional tool for the diagnosis of acral melanocytic lesions, and its use may decrease the need for invasive procedures to some extent. Visualization of deeper layers may be achieved through mechanical removal of the superficial stratum corneum. Full article

(This article belongs to the Special Issue Advances in Diagnosis of Skin and Superficial Tissues Disorders—“Old and Emerging” Diagnostic Tools)

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5 pages, 8233 KiB

Open AccessCase Report

Whole-Exome Sequencing Revealed a Pathogenic Germline Variant in the Fumarate Hydratase Gene, Leading to the Diagnosis of Hereditary Leiomyomatosis and Renal Cell Cancer

by Akari Nagashima, Sohshi Morimura, Toshihisa Hamada, Takayuki Shiomi, Ichiro Mori, Naoko Sato, Junko Nomoto, Masaki Tanaka, Shoji Tsuji and Makoto Sugaya

Diagnostics 2024, 14(12), 1279; https://doi.org/10.3390/diagnostics14121279 - 17 Jun 2024

Viewed by 807

Abstract

The diagnosis of hereditary skin tumors is difficult for “old” diagnostic tools such as immunohistochemistry. Whole-exome sequencing analysis as a “new” diagnostic tool enables us to make a final diagnosis in spite of unknown hereditary diseases in the past. Hereditary leiomyomatosis and renal cell cancer are autosomal dominant hereditary cancer syndromes characterized by uterine myomas, cutaneous leiomyomas, and aggressive renal cell cancer. The syndrome is associated with pathogenic germline variants in the fumarate hydratase gene. Herein, we demonstrate a pathogenic germline variant of the fumarate hydratase gene in a 60-year-old woman with multiple cutaneous leiomyomas, leading to the diagnosis of hereditary leiomyomatosis and renal cell cancer. Whole-exome sequencing analysis using genomic DNA extracted from peripheral blood leukocytes revealed one germline variant in the FH gene on chromosome 1 (c.290G>A, p.Gly97Asp). She received total hysterectomy due to uterine myoma, which strongly supported the diagnosis. No tumor was detected in her kidney by computed tomography and ultrasound examination. Genetic examination for the mutation of the fumarate hydratase gene is important in order to reach the correct diagnosis and to detect renal cancer at its early stage. Full article

(This article belongs to the Special Issue Advances in Diagnosis of Skin and Superficial Tissues Disorders—“Old and Emerging” Diagnostic Tools)

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