Diagnostics

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13 pages, 3193 KB

Open AccessArticle

Diagnostic Utility of PRAME Expression in Melanocytic Lesions: Cut-Off Threshold Analysis

by Beste Noyan Mod and Cem Leblebici

Diagnostics 2025, 15(20), 2595; https://doi.org/10.3390/diagnostics15202595 - 15 Oct 2025

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Abstract

Background/Objectives: PRAME (Preferentially Expressed Antigen in Melanoma) is a promising immunohistochemical marker for distinguishing melanoma from benign melanocytic lesions, though optimal thresholds remain uncertain. This study evaluated PRAME expression in melanocytic lesions and compared diagnostic accuracy using two thresholds. Methods: We [...] Read more.

Background/Objectives: PRAME (Preferentially Expressed Antigen in Melanoma) is a promising immunohistochemical marker for distinguishing melanoma from benign melanocytic lesions, though optimal thresholds remain uncertain. This study evaluated PRAME expression in melanocytic lesions and compared diagnostic accuracy using two thresholds. Methods: We retrospectively assessed PRAME expression in 145 melanocytic lesions diagnosed between 2016 and 2021 at Istanbul Training and Research Hospital: 52 melanomas, 27 dysplastic nevi, 23 Spitz nevi, 15 compound nevi, 23 blue nevi, and 5 congenital nevi. Immunohistochemical staining (PRAME EP461, Cell Marque) was scored semi-quantitatively based on nuclear positivity: 0 (negative), 1 (1–24%), 2 (25–49%), 3 (50–74%), and 4 (≥75%). Diagnostic accuracy was evaluated at 50% and 75% thresholds. Results: PRAME expression at both thresholds was significantly higher in melanomas than nevi (p < 0.05). Sensitivity and specificity were 92.3% and 96.8% at 50%, and 82.7% and 98.9% at 75%. Lowering the threshold to 50% improved sensitivity with minimal specificity loss, particularly differentiating melanoma from dysplastic, compound, and blue nevi. Occasional positivity was observed in Spitz and dysplastic nevi; one melanoma was PRAME-negative. Conclusions: PRAME is an effective marker for melanoma diagnosis. A 50% threshold optimizes sensitivity while preserving specificity; however, histopathological evaluation remains the gold standard, and PRAME should be used only as an adjunct to avoid potential overdiagnosis, particularly in borderline lesions. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Skin Disease)

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21 pages, 2172 KB

Open AccessArticle

The Epidemiological and Histopathological Profiling of Basal Cell Carcinoma: Insights from a 4-Year Institutional Cohort in a Romanian Clinical County Hospital

by Iuliu-Gabriel Cocuz, Martin Manole, Maria-Cătălina Popelea, Raluca Niculescu, Maria Elena Cocuz, Adrian Horațiu Sabău, Andreea Cătălina Tinca, Andreea Raluca Cozac-Szőke, Diana Maria Chiorean, Alexandru Constantin Ioniță, Eugenia Corina Budin, Georgian-Nicolae Radu, Emoke Andrea Szasz and Ovidiu Simion Cotoi

Diagnostics 2025, 15(18), 2377; https://doi.org/10.3390/diagnostics15182377 - 18 Sep 2025

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Abstract

Background/Objectives: Basal cell carcinoma (BCC) of the skin is a type of non-melanocytic skin cancer. The European incidence of non-melanocytic skin cancers is 14.2 per 100,000 people, with a mortality rate of 0.5, thus ranking Europe third in the world in terms [...] Read more.

Background/Objectives: Basal cell carcinoma (BCC) of the skin is a type of non-melanocytic skin cancer. The European incidence of non-melanocytic skin cancers is 14.2 per 100,000 people, with a mortality rate of 0.5, thus ranking Europe third in the world in terms of incidence and mortality rate, according to the WHO Global Cancer Observatory. The objective of this study was to highlight the histological, epidemiological, and clinicopathological aspects of BCCs diagnosed in the Clinical Pathology Department of the Mures Clinical County Hospital between January 2021 and December 2024. Methods: We performed a retrospective, descriptive, observational study between January 2021 and December 2024 in the Mureș Clinical County Hospital, Targu Mureș, Romania, by analysing data from histopathological reports and histological slides from patients with a positive diagnosis of BCC. The inclusion criteria for this study consisted of patients who presented a histopathological diagnosis of BCCs during the study period. Lesions were divided into two study cohorts—a general cohort and head and neck cohort. The collected data included epidemiological data, macroscopic features, and microscopical characteristics. Results: A total of 540 lesions were included in this study (general cohort), of which 395 were included in the head and neck cohort. This study revealed a higher incidence of BCC in 2024, affecting mostly urban patients (p < 0.001), with more aggressive forms (p < 0.001). The tumours found among males (p = 0.0189) and in rural patients (p = 0.0126) were bigger, but the tumoural volumes decreased over time (p < 0.001). The mixed form of BCC was associated with more aggressive histological subtypes (p < 0.001). Conclusions: BCC presents variability depending on age, gender, environment of origin, and topography, as well as histological subtype and aggressiveness, thus highlighting the need for a personalised approach in terms of diagnostics and treatment. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Skin Disease)

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16 pages, 512 KB

Open AccessArticle

Diagnostic and Therapeutic Challenges in Psoriasis–Atopic Dermatitis Overlap: A Retrospective Observational Cohort Study

by Daciana Elena Brănișteanu, Cristina Colac Boțoc, Antonia Elena Huțanu, Cătălina Anca Munteanu, Roxana Paraschiva Ciobanu, Daniel Constantin Brănișteanu, Alin Gabriel Colac, Cătălina Ioana Onu-Brănișteanu, George Brănișteanu, Nicuta Manolache, Elena Porumb-Andrese and Mihaela-Paula Toader

Diagnostics 2025, 15(11), 1381; https://doi.org/10.3390/diagnostics15111381 - 29 May 2025

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Abstract

Background and Objectives: Psoriasis and atopic dermatitis (AD) are immune-mediated inflammatory diseases traditionally viewed as distinct. However, a subset of patients may present with overlapping features, leading to diagnostic and therapeutic challenges. This study aims to characterize the clinical, histopathological, and therapeutic features [...] Read more.

Background and Objectives: Psoriasis and atopic dermatitis (AD) are immune-mediated inflammatory diseases traditionally viewed as distinct. However, a subset of patients may present with overlapping features, leading to diagnostic and therapeutic challenges. This study aims to characterize the clinical, histopathological, and therapeutic features of patients with psoriasis–AD overlap. Materials and Methods: A retrospective review was conducted on patients diagnosed with both psoriasis vulgaris and AD between January 2021 and October 2024 at a single tertiary dermatology center. Inclusion required histopathological confirmation of psoriasis and a clinical diagnosis of AD based on Hanifin and Rajka criteria. Clinical features, histopathology, treatment history, and 6-month outcomes were analyzed. Results: Out of 469 patients screened, 24 (5.1%) had both conditions. Psoriasis preceded AD in 91.6% of cases. Most patients had intrinsic AD subtypes and moderate-to-severe diseases. Palmoplantar involvement was present in 66.6%, often refractory to biologics alone. Histological overlap complicated diagnosis, with repeated biopsies required in 58.3% of cases. Patients with dual diseases often required combination therapy, and JAK inhibitors showed favorable outcomes in refractory cases. Conclusions: Psoriasis–AD overlap represents a distinct clinical entity requiring individualized diagnosis and management. Recognition of this phenotype is critical for optimizing therapeutic outcomes. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Skin Disease)

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13 pages, 5822 KB

Open AccessArticle

The Potential Roles of IL-1β, IL-6, and RIPK3 in the Pathogenesis of Stevens–Johnson Syndrome/Toxic Epidermal Necrolysis

by Chandana Sooranahalli, Vidhya R. Rao, Brandon Zelman, Mallika Shekhar, Sevnur Komurlu Keceli, Charles Bouchard and Omer Iqbal

Diagnostics 2025, 15(3), 290; https://doi.org/10.3390/diagnostics15030290 - 26 Jan 2025

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Abstract

Background/Objectives: Stevens–Johnson Syndrome and Toxic Epidermal Necrolysis (SJS/TEN) are rare but severe skin conditions, often triggered by medications, that can be life-threatening. These conditions frequently affect the eyes, causing ocular surface disease, which can result in visual impairment or blindness. Although the exact [...] Read more.

Background/Objectives: Stevens–Johnson Syndrome and Toxic Epidermal Necrolysis (SJS/TEN) are rare but severe skin conditions, often triggered by medications, that can be life-threatening. These conditions frequently affect the eyes, causing ocular surface disease, which can result in visual impairment or blindness. Although the exact mechanisms behind SJS/TEN remain unclear, key inflammatory mediators such as IL-1β, IL-6, and RIPK3 are believed to play critical roles in inflammation, necroptosis, and regulatory processes. Investigating these factors offers new insights into the disease’s underlying mechanisms and potential targets for treatment. This study aims to determine the roles of IL-1β, IL-6, and RIPK3 in the pathogenesis of SJS/TEN. Methods: The study examined the expression levels of IL-1β, IL-6, and RIPK3 in skin biopsies from patients with biopsy-confirmed SJS/TEN, using lichen planus as a positive control and normal skin as a baseline control. Immunohistochemistry was employed for this analysis. Additionally, the impact of SJS/TEN patient plasma on mitochondrial function was assessed in platelets and human corneal epithelial (H-CET) cells. Using a fluorescent plate reader, mitochondrial activity and superoxide ion levels were measured, comparing plasma from SJS/TEN patients to normal human plasma. Results: Skin biopsies from SJS/TEN patients showed a significantly higher expression of IL-1β, IL-6, and RIPK3 compared to both lichen planus and normal controls. Furthermore, plasma from SJS/TEN patients significantly reduced platelet viability and increased mitochondrial and total cellular superoxide ions, as demonstrated by elevated levels of MitoSOX Red and CellROX Red. Conclusions: These findings suggest that IL-1β, IL-6, and RIPK3 may contribute to the pathogenesis of SJS/TEN and highlight their potential as targets for therapeutic intervention. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Skin Disease)

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9 pages, 222 KB

Open AccessArticle

The Impact of the COVID-19 Pandemic on Melanoma Diagnosis: A Single-Center Study

by Adrian-Horațiu Sabău, Iuliu-Gabriel Cocuz, Raluca Niculescu, Andreea Cătălina Tinca, Andreea Raluca Szoke, Bianca-Andreea Lazar, Diana Maria Chiorean and Ovidiu Simion Cotoi

Diagnostics 2024, 14(18), 2032; https://doi.org/10.3390/diagnostics14182032 - 13 Sep 2024

Cited by 3 | Viewed by 1497

Abstract

(1) Background: Melanoma represents the most aggressive form of skin cancer, with an increasing incidence and numerous risk factors. The COVID-19 pandemic has led to modifications in work protocols. This study aims to elucidate potential changes in the number and characteristics of primary [...] Read more.

(1) Background: Melanoma represents the most aggressive form of skin cancer, with an increasing incidence and numerous risk factors. The COVID-19 pandemic has led to modifications in work protocols. This study aims to elucidate potential changes in the number and characteristics of primary melanomas diagnosed in the Pathology Department of the Târgu Mureș County Clinical Hospital before, during, and after the COVID-19 pandemic. (2) Methods: This study included 140 patients grouped into six periods: two pre-COVID-19 periods, the COVID-19 pandemic period, and three post-COVID-19 periods. Epidemiological data, diagnoses, and histopathological reports were analyzed. (3) Results: The number of cases diagnosed during the COVID-19 pandemic was significantly lower than in the other analyzed periods. Regarding the monitored parameters, a statistically significant increase was observed in the first two post-COVID-19 periods, with a return to values similar to those of the first period in the last analyzed period. Additionally, a statistically significant increase in the incidence of distant metastases was identified in the post-COVID-19 periods. (4) Conclusions: The COVID-19 pandemic had a negative impact on the diagnosis of new melanoma cases, leading to an increase in the number of cases and a worsening of prognostic parameters. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Skin Disease)

Review

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21 pages, 1042 KB

Open AccessReview

Squamous Cell Carcinoma of the Nail Unit: A Comprehensive Review of Clinical Features, Diagnostic Workflow, Management Strategies and Therapeutic Options

by Federico Venturi, Elisabetta Magnaterra, Biagio Scotti, Aurora Alessandrini, Leonardo Veneziano, Sabina Vaccari, Carlotta Baraldi and Emi Dika

Diagnostics 2025, 15(18), 2378; https://doi.org/10.3390/diagnostics15182378 - 18 Sep 2025

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Abstract

Background/Objectives: Squamous cell carcinoma of the nail unit (SCCNU) is a rare yet often underrecognized malignancy that can lead to delayed diagnosis and significant functional morbidity. This review aims to comprehensively summarize the current understanding of SCCNU, focusing on its clinical, dermoscopic, and [...] Read more.

Background/Objectives: Squamous cell carcinoma of the nail unit (SCCNU) is a rare yet often underrecognized malignancy that can lead to delayed diagnosis and significant functional morbidity. This review aims to comprehensively summarize the current understanding of SCCNU, focusing on its clinical, dermoscopic, and molecular features, diagnostic approaches, and evolving management strategies, including the role of emerging technologies and immunotherapy. Methods: A detailed literature review was conducted using peer-reviewed publications, case series, and institutional guidelines related to SCCNU. Emphasis was placed on studies addressing clinical presentation, dermoscopic patterns, molecular pathology, histologic subtypes, imaging, biopsy techniques, staging systems, and both conventional and novel therapeutic approaches. Comparative analyses of histopathological variants and diagnostic algorithms were included. Results: SCCNU presents in patients with diverse clinical manifestations, often mimicking benign nail disorders, leading to diagnostic delays. Dermoscopy improves lesion visualization, revealing features such as vascular changes and onycholysis. Histologically, SCCNU exhibits two main subtypes: basaloid (HPV-related) and keratinizing (HPV-negative) types. Molecular analyses have identified TP53 as the most frequently mutated gene, with additional alterations in HRAS, BRAF, and TERT. Imaging modalities such as MRI and LC-OCT aid in staging and surgical planning. Management is centered on complete excision—often via Mohs micrographic surgery—while topical, intralesional, and HPV-directed therapies are under investigation. Immunohistochemical markers (p16, Ki-67, AE1/AE3) and neoadjuvant immunotherapy represent promising adjuncts. Conclusions: Early diagnosis through non-invasive imaging, improved molecular characterization, and personalized treatment strategies are essential to advancing care in SCCNU. Future directions include clinical trials evaluating immunotherapy, vaccine strategies, and precision-guided surgical approaches to preserve function and minimize recurrence. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Skin Disease)

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27 pages, 700 KB

Open AccessReview

Inflammatory Signatures and Biological Markers in Platelet-Rich Plasma Therapy for Hair Regrowth: A Comprehensive Narrative Analysis

by Adelina Vrapcea, Cătălina Gabriela Pisoschi, Eleonora Daniela Ciupeanu-Calugaru, Emil-Tiberius Traşcă, Cristina Violeta Tutunaru, Patricia-Mihaela Rădulescu and Dumitru Rădulescu

Diagnostics 2025, 15(9), 1123; https://doi.org/10.3390/diagnostics15091123 - 28 Apr 2025

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Abstract

Context: Hair loss (alopecia) presents both aesthetic and psychological challenges, significantly impacting quality of life. Platelet-rich plasma (PRP) therapy has gained prominence due to its ability to deliver growth factors and modulate local inflammation. However, uncertainties remain regarding the mechanisms through which systemic [...] Read more.

Context: Hair loss (alopecia) presents both aesthetic and psychological challenges, significantly impacting quality of life. Platelet-rich plasma (PRP) therapy has gained prominence due to its ability to deliver growth factors and modulate local inflammation. However, uncertainties remain regarding the mechanisms through which systemic inflammation, oxidative stress, and coagulation factors influence PRP’s efficacy. Objectives: This narrative review explores the impact of inflammatory biomarkers (e.g., NLR, PLR, IL-6, TNF-α) and growth factors (VEGF, TGF-β, FGF) on hair regeneration in PRP therapy. It discusses how oxidative stress and vitamin status (B12, D, folate) correlate with therapeutic success. Additionally, it examines the PRP preparation protocols and combined approaches (microneedling, minoxidil, LLLT) that may amplify clinical responses. Results: The synthesized data highlight that elevated systemic inflammation (increased NLR/PLR values) can limit PRP’s effectiveness, while the regulation of inflammation and optimization of antioxidant status can enhance hair density and thickness. Integrating vitamins and an anti-inflammatory diet into the therapeutic protocol is associated with more stable hair growth and reduced adverse reactions. The variability in PRP’s preparation and activation methods remains a major obstacle, underscoring the need for standardization. Conclusions: Integrating inflammatory biomarkers with oxidative stress indicators provides fresh insights for tailoring PRP therapies in alopecia. Multimodal treatment strategies combined with collaborative multicenter studies—in which biological markers are embedded within rigorous protocols—could establish standardized methodologies and significantly enhance the treatment success. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Skin Disease)

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12 pages, 4276 KB

Open AccessReview

Tumid Lupus Erythematosus (TLE): A Review of a Rare Variant of Chronic Cutaneous Lupus Erythematosus (cCLE) with Emphasis on Differential Diagnosis

by Maged Daruish, Francesca Ambrogio, Caterina Foti, Alessandra Filosa and Gerardo Cazzato

Diagnostics 2024, 14(7), 780; https://doi.org/10.3390/diagnostics14070780 - 8 Apr 2024

Cited by 2 | Viewed by 4012

Abstract

Tumid lupus erythematosus (TLE) has been the subject of heated debate regarding its correct nosographic classification. The definition of TLE has changed over time, varying according to the different studies performed. In this review, we address the initial definition of TLE, the changes [...] Read more.

Tumid lupus erythematosus (TLE) has been the subject of heated debate regarding its correct nosographic classification. The definition of TLE has changed over time, varying according to the different studies performed. In this review, we address the initial definition of TLE, the changes that have taken place in the understanding of TLE, and its placement within the classification of cutaneous lupus erythematosus (CLE), with a focus on clinical, histopathological, immunophenotypical, and differential diagnosis aspects. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Skin Disease)

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Other

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5 pages, 1109 KB

Open AccessInteresting Images

Nevus with Intralymphatic Nevus Cell Protrusion and Lymphatic Invasion

by Fanni Hegedűs, Zsuzsanna Ujfaludi, Orsolya Oláh-Németh, Tamás Lantos, Sándor Turkevi-Nagy, István Balázs Németh and Anita Sejben

Diagnostics 2025, 15(18), 2382; https://doi.org/10.3390/diagnostics15182382 - 18 Sep 2025

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Abstract

We hereby present a case of a 51-year-old woman with a pigmented nodule in the right axillary region. Histopathological examination revealed features consistent with an intradermal nevus. Notably, adjacent to the nevus, intralymphatic protrusion and lymphatic invasion were observed, comprising cells with morphological [...] Read more.

We hereby present a case of a 51-year-old woman with a pigmented nodule in the right axillary region. Histopathological examination revealed features consistent with an intradermal nevus. Notably, adjacent to the nevus, intralymphatic protrusion and lymphatic invasion were observed, comprising cells with morphological and immunohistochemical characteristics consistent with nevus cells. Next-generation sequencing revealed the BRAF V600E mutation. To date, 26 similar cases involving intralymphatic nevus cell protrusion and lymphatic invasion have been reported in the literature. Although this finding is rare and may pose a diagnostic challenge for pathologists, it should not be interpreted as indicative of malignancy. Rather, it must be assessed in the context of the lesion’s overall histological architecture. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Skin Disease)

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