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Diagnostics
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New Developments in the Diagnosis of Skin Tumors
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New Developments in the Diagnosis of Skin Tumors

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Medical Imaging and Theranostics".

Deadline for manuscript submissions: 30 June 2025 | Viewed by 6029

Special Issue Editor

Dr. Sorina Danescu

E-Mail Website
Guest Editor
Department of Dermatology, University of Medicine and Pharmacy ‘I. Hatieganu’, 400347 Cluj Napoca, Romania
Interests: dermatology; epidermolysis bullosa; genodermatosis; melanoma; squamous cell carcinoma
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Skin tumors represent a significant burden on healthcare systems and patients alike. With their incidence steadily rising over recent decades, the need for advancements in their diagnosis and management has become increasingly urgent. In response to this pressing demand, this Special Issue, titled “New Developments in the Diagnosis of Skin Tumors”, aims to provide a comprehensive exploration of the latest advancements, innovations, and breakthroughs in the field.

By delving into novel imaging techniques, molecular biomarkers, histopathological analyses, and emerging technologies, this collection of articles aims to shed light on promising avenues for improving the early detection, precise diagnosis, and personalized management of skin tumors.

The goal of this Special Issue is to catalyze advancements in skin tumor diagnosis that will translate into tangible benefits for patients, including the earlier detection of lesions, reduced morbidity and mortality rates, and an enhanced overall quality of life.

Dr. Sorina Danescu
Guest Editor

Manuscript Submission Information

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.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • basal cell carcinoma
  • melanoma
  • benign tumors
  • cutaneous squamous cell carcinoma
  • Bowen’s disease
  • actinic keratosis
  • diagnosis
  • biomarkers
  • imaging techniques
  • molecular diagnostics
  • histopathology
  • precision medicine

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Published Papers (5 papers)

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Research

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17 pages, 1728 KiB  
Article
TERT Immunohistochemistry in Thin Melanomas Compared to Melanocytic Nevi
by Iulia Zboraș, Loredana Ungureanu, Simona Corina Șenilă, Bobe Petrushev, Paula Zamfir, Doinița Crișan, Flaviu Andrei Zaharie, Ștefan Cristian Vesa and Rodica Cosgarea
Diagnostics 2025, 15(9), 1171; https://doi.org/10.3390/diagnostics15091171 - 4 May 2025
Abstract
Background/Objectives: Telomerase plays a vital role in preserving telomere length, a key process in cancer development. Human telomerase reverse transcriptase (hTERT) is commonly expressed in various cancers, including melanoma. This study evaluated hTERT protein expression in melanomas compared to melanocytic nevi. Methods [...] Read more.
Background/Objectives: Telomerase plays a vital role in preserving telomere length, a key process in cancer development. Human telomerase reverse transcriptase (hTERT) is commonly expressed in various cancers, including melanoma. This study evaluated hTERT protein expression in melanomas compared to melanocytic nevi. Methods: In total, we examined 75 melanocytic lesions using TERT immunohistochemistry on paraffin-embedded tissues; 36 of them were thin melanomas (Breslow index ≤ 1 mm) and 39 melanocytic nevi. Results: The TERT expression differed with statistical significance between the two studied groups, melanomas and melanocytic nevi, in all three aspects examined: percentage of staining (p = 0.006), intensity of staining (p = 0.035), and localisation of staining (p = 0.012). Three quarters of the melanomas stained in over 50% of the cells at cytoplasmic level, 52.78% of the melanomas exhibited an intensity of 3+, and all melanomas were stained at the cytoplasmic level, except for the two negative cases. The values were lower in the melanocytic nevi group. Still, the diagnostic values were relatively low (sensitivity = 75%, specificity = 58.97%, PPV = 62.79%, NPV = 71.88%, and ACC = 66.67%). Conclusions: TERT immunohistochemistry differed between the two studied groups; however, the diagnostic utility is low in our study. Combining with other immunohistochemical antibodies would probably increase the diagnostic power. Full article
(This article belongs to the Special Issue New Developments in the Diagnosis of Skin Tumors)
20 pages, 5572 KiB  
Article
Enhancing Diagnosis in Squamous Cell Carcinoma: Non-Invasive Imaging and Multimodal Approach
by Mircea Negrutiu, Sorina Danescu, Monica Focsan, Stefan Cristian Vesa, Adelina Cadar, Stefan Vaida, Alexandra Oiegar and Adrian Baican
Diagnostics 2025, 15(8), 1018; https://doi.org/10.3390/diagnostics15081018 - 16 Apr 2025
Viewed by 289
Abstract
Background/Objectives: Cutaneous squamous cell carcinoma (cSCC) is the second most common skin cancer, with diverse clinical presentations. This study aims to correlate findings from dermoscopy, ultrasonography, ex vivo confocal microscopy, and histology to improve diagnostic accuracy and guide better clinical management of [...] Read more.
Background/Objectives: Cutaneous squamous cell carcinoma (cSCC) is the second most common skin cancer, with diverse clinical presentations. This study aims to correlate findings from dermoscopy, ultrasonography, ex vivo confocal microscopy, and histology to improve diagnostic accuracy and guide better clinical management of cSCC. Methods: This cross-sectional study, conducted between July 2022 and December 2024, included 26 patients with 35 clinically suspicious cSCC tumors, analyzed through clinical, dermoscopic, high-frequency ultrasound (HFUS), ex vivo confocal fluorescence microscopy (FCM), and histopathology. Tumors were evaluated for various clinical, imaging, and histopathological criteria, such as tumor thickness, vascularization, differentiation degree, and invasion level, with FCM applied to 24 tumors for advanced microscopic analysis. Results: The study analyzed 35 cases of histopathologically confirmed cSCC, finding that invasive SCC was associated with greater tumor thickness, increased vascularization, and ulceration on both ultrasound and dermatoscopy, while in situ SCC showed homogeneous echogenicity and specific dermoscopic patterns like dotted vessels and white halos. Strong correlations were identified between ultrasound and histopathological measurements of tumor thickness and invasion depth, and confocal microscopy revealed that features like plump bright cells and nest-like structures were linked to invasive and poorly differentiated tumors. Conclusions: This study uniquely integrates advanced imaging techniques—dermatoscopy, skin ultrasound, and ex vivo confocal microscopy—with histopathological analysis to provide new insights into tumor grade, vascularity, and invasion depth in cSCC, enhancing non-invasive diagnosis. Full article
(This article belongs to the Special Issue New Developments in the Diagnosis of Skin Tumors)
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11 pages, 3222 KiB  
Article
Dermoscopy Training Course Improves Ophthalmologists’ Accuracy in Diagnosing Atypical Pigmented Periorbital Skin Lesions
by Giovanni Rubegni, Alessandra Cartocci, Linda Tognetti, Matteo Orione, Caterina Gagliano, Tommaso Bacci, Antonio Tarantello, Nicola Lo Russo, Mario Fruschelli, Niccolò Castellino, Ernesto De Piano, Martina D’Onghia, Gabriele Cevenini, Teresio Avitabile, Pietro Rubegni, Alessio Luschi and Gian Marco Tosi
Diagnostics 2024, 14(22), 2571; https://doi.org/10.3390/diagnostics14222571 - 15 Nov 2024
Cited by 1 | Viewed by 707
Abstract
Background/Objectives: Facial pigmented skin lesions are extremely common, starting from the fourth to fifth decades, especially in South-European countries, often located in the periorbital region. These include malignant forms, Lentigo maligna (LM) and lentigo maligna melanoma (LMM), characterized by growing incidence, and a [...] Read more.
Background/Objectives: Facial pigmented skin lesions are extremely common, starting from the fourth to fifth decades, especially in South-European countries, often located in the periorbital region. These include malignant forms, Lentigo maligna (LM) and lentigo maligna melanoma (LMM), characterized by growing incidence, and a series of benign simulators, including solar lentigo (SL), pigmented actinic keratosis (PAK), seborrheic keratosis (SK) and lichen planus-like keratosis (LPK). The clinical differential diagnosis of atypical pigmented skin lesions (aPFLs) can be difficult, even for dermatologists, leading to inappropriate skin biopsies with consequent aesthetic impacts. Dermoscopy of the facial area is a specific dermoscopic field that requires dedicated training and proved to increase diagnostic accuracy in dermatologists. Since these lesions are often seen by ophthalmologists at first, we aimed to evaluate the effect of a focused dermoscopy training course on a group of ophthalmologists naïve to the use of a dermatoscope. Methods: A set of 80 periorbital pigmented skin lesions with both clinical and dermoscopic images was selected and evaluated by six ophthalmologists before and after a one-day intensive dermoscopic training course. They were required to evaluate 80 periorbital lesions one month before and after a one-day intensive dermoscopic training course, illustrating second-level diagnostic options such as reflectance confocal microscopy (RCM), obtaining a total of 480 evaluations. Specifically, they had to provide, for each case, a punctual diagnosis and a management option among dermoscopic follow-up/skin biopsy/RCM/LC-OCT. Descriptive statistics were carried out, and the accuracy (ACC), sensitivity (SE), and specificity (SP), with their 95% confidence interval (95% CI), were estimated. Results: In the pre-course test, ophthalmologists achieved 84.0% SP, 33.3% SE and 63.7% ACC, while after the course, SE increased by +9% (i.e., 41.7%), SP decreased by 4%, and ACC remained comparable, i.e., 64.6%. In the management study, the percentage of benign lesions for which a close dermoscopic follow-up was suggested significantly decreased (51.6% versus 22.2%), in parallel with an increase in the number of lesions referred for RCM. As for malignant cases, the reduction in responses “close dermoscopic follow-up” decreased from 37.0% to 9.9%, (−27%), in favor of RCM (+15%) and skin biopsy (+12%). Conclusions: The ophthalmologists proved to be very receptive in quickly metabolizing and putting into practice the concepts learned during the one-day intensive dermoscopy training course. Indeed, after only a one-day lesson, they were able to increase their SE by 9% and to improve their management strategy. The present findings highlight the importance of providing training ophthalmologists in dermoscopy during residency programs, in terms of benefits for the correct patient care. Full article
(This article belongs to the Special Issue New Developments in the Diagnosis of Skin Tumors)
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Review

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20 pages, 1791 KiB  
Review
Squamous Cell Carcinoma In Situ—The Importance of Early Diagnosis in Bowen Disease, Vulvar Intraepithelial Neoplasia, Penile Intraepithelial Neoplasia, and Erythroplasia of Queyrat
by Lucian G. Scurtu, Francesca Scurtu, Sebastian Catalin Dumitrescu and Olga Simionescu
Diagnostics 2024, 14(16), 1799; https://doi.org/10.3390/diagnostics14161799 - 16 Aug 2024
Cited by 3 | Viewed by 4058
Abstract
Cutaneous squamous cell carcinoma (cSCC) is the second-most-prevalent malignancy in humans. A delayed diagnosis of cSCC leads to heightened invasiveness and positive surgical margins. Bowen’s disease (BD) represents an early form of cSCC and presents as a small erythematous, photo-distributed, psoriasiform plaque. Although [...] Read more.
Cutaneous squamous cell carcinoma (cSCC) is the second-most-prevalent malignancy in humans. A delayed diagnosis of cSCC leads to heightened invasiveness and positive surgical margins. Bowen’s disease (BD) represents an early form of cSCC and presents as a small erythematous, photo-distributed, psoriasiform plaque. Although certain dermoscopy features in BD are quite characteristic, histopathology remains the gold standard for diagnosis and provides a severity-scoring system that assists in guiding appropriate treatment strategies. The classification of precancerous lesions of the vulva and penis has undergone multifarious transformations due to variations in clinical and histopathological characteristics. Presently, erythroplasia of Queyrat is categorized as a clinical variant of penile intraepithelial neoplasia (PeIN). The diagnoses of vulvar intraepithelial neoplasia (VIN) and PeIN present significant challenges and typically necessitate one or more biopsies, potentially guided by dermoscopy. Aceto-white testing demonstrates a notably high negative predictive value for genital precancerous lesions. Histopathological examination represents the gold-standard diagnosis in VIN and PeIN, while p16 and p53 immunostainings alongside HPV testing provide crucial diagnostic clues. The histopathologic features, degree of differentiation, and associations with lichen planus, lichen sclerosus, and HPV guide the selection of conservative treatments or surgical excision. Full article
(This article belongs to the Special Issue New Developments in the Diagnosis of Skin Tumors)
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Other

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7 pages, 1102 KiB  
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A Rare Case of Xeroderma Pigmentosum: Nivolumab Treatment for Three Cutaneous Malignancies with Clinical and Metabolic Imaging Correlation
by Ilaria Proietti, Riccardo Pirisino, Giulia Azzella, Vincenzo Coppolelli, Maria Elisabetta Greco, Emanuele Casciani, Concetta Potenza and Luca Filippi
Diagnostics 2025, 15(8), 979; https://doi.org/10.3390/diagnostics15080979 - 12 Apr 2025
Viewed by 350
Abstract
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by extreme ultraviolet (UV) sensitivity, predisposing patients to multiple cutaneous malignancies. We present the case of a 26-year-old male with XP diagnosed with three distinct skin cancers: superficial spreading melanoma (SSM), basal cell [...] Read more.
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by extreme ultraviolet (UV) sensitivity, predisposing patients to multiple cutaneous malignancies. We present the case of a 26-year-old male with XP diagnosed with three distinct skin cancers: superficial spreading melanoma (SSM), basal cell carcinoma (BCC), and squamous cell carcinoma (SCC). Among these, the melanoma had metastasized. A computed tomography (CT) scan revealed a suspicious pulmonary nodule, prompting further metabolic characterization via positron emission tomography/computed tomography (PET/CT) with 18F-fluorodeoxyglucose ([18F]FDG). The scan detected significant hypermetabolism not only in the lung lesion but also in an unsuspected right parotid gland lesion, refining disease staging and guiding treatment decisions. The patient underwent immunotherapy with nivolumab, achieving a complete metabolic response in both metastatic lesions, as confirmed by follow-up PET/CT. This case underscores the critical role of [18F]FDG PET/CT in staging and treatment monitoring for selected patients with XP, a population in which advanced imaging is rarely employed. Moreover, the patient’s remarkable response to immunotherapy suggests a potential link between XP-related DNA repair defects and increased sensitivity to PD-1 blockade. These findings highlight the importance of integrating metabolic imaging into XP management and warrant further investigation into the immunogenicity of XP-associated malignancies. Full article
(This article belongs to the Special Issue New Developments in the Diagnosis of Skin Tumors)
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