Search Results (341)

Background and Objectives: Spitz tumors represent a diagnostic challenge in dermatopathology due to their large spectrum of morphological characteristics and overlap with malignant lesions, especially in pathology departments where molecular pathology is not available. Even though most Spitz lesions are benign, the uncertainty around their biological behavior necessitates an integrated approach in daily practice. The objective of our study was to evaluate the epidemiological, macroscopic, and histopathological characteristics of Spitz lesions in accordance with WHO Classification of Skin Tumours. Materials and Methods: We performed a retrospective, descriptive, and hypothesis-generating study on Spitz tumors diagnosed between 2018 and 2024 in the Clinical Pathology Department of the Mures Clinical County Hospital, Romania. We included 10 cases and analyzed their macroscopic characteristics (localization, shape, dimension, and color), microscopic characteristics (cellular types, cytologic atypia, pagetoid migration, mitoses, and the type of lesion), and immunohistochemical profile. Results: The study population was composed of young patients with an average age of 20.2 years old, with a slight predominance of female gender. Most lesions were Spitz nevi, intradermic, or compound, with a fusiform, epithelioid, or rhomboid cell shape. Pagetoid migration and cytological atypia were seen in fewer cases. The Ki 67 proliferation index was under 5% in all cases. The main limitation of this study involved the low number of cases and the lack of molecular testing, which limited the molecular characterization of Spitz tumors. Complete excision was performed in all cases. Conclusions: In the absence of molecular testing, our study emphasizes the importance of clinical–morphological assessment using immunohistochemistry in establishing a correct diagnosis in Spitz lesions. Our results confirm that most of the Spitz lesions were benign and provide a basis for future research with a multidisciplinary approach, including molecular testing. Full article

Skin cancer is the most frequently diagnosed form of cancer worldwide. Diagnostic uncertainty can arise when macroscopic or dermoscopic evaluations do not clearly differentiate between benign and malignant lesions. Laser-induced plasma spectroscopy (LIPS), traditionally used in fields like materials science and environmental analysis, has recently gained attention for its applications in human tissue assessment. LIPS works by generating a (micro)plasma when a laser interacts with tissue, producing element-specific light emissions that can be analyzed in real time. In this study, we explored the potential of LIPS to differentiate between benign and malignant skin lesions using the Spectra-Scope^® Score (SSS). Our results revealed a clear distinction: benign lesions showed a median SSS of 1.7, while suspicious and malignant lesions had a significantly higher median score of 8.1 (p < 0.001). Receiver operating characteristic (ROC) curve analysis demonstrated strong diagnostic performance, with an area under the curve (AUC) of 0.82 (p < 0.001). The findings of this preliminary study support the high accuracy of LIPS in identifying malignancy and underscore its promise as a non-invasive, real-time diagnostic aid. Integrating SSS into clinical workflows could enhance the early detection of skin cancer and reduce reliance on invasive diagnostic procedures. However, further validation is needed to fully establish its role in routine dermatological practice. Full article

Background: Melanoma is one of the most aggressive types of skin cancer. Its diagnosis appears to be challenging due to morphological similarities to benign melanocytic lesions. Even though histopathological evaluation is the diagnostic gold standard, immunohistochemistry (IHC) proves to be useful in challenging cases. Preferentially Expressed Antigen in Melanoma (PRAME) has emerged as a promising diagnostic, prognostic, and therapeutic marker in melanoma. Methods: This review critically examines the role of PRAME across clinical domains. It presents an evaluation of PRAME’s diagnostic utility in differentiating melanomas from benign nevi, its prognostic significance across melanoma subtypes, and therapeutic applications in emerging immunotherapy strategies. An extensive analysis of the current literature was conducted, with a focus on PRAME expression patterns in melanocytic lesions and various malignancies, along with its integration into IHC protocols and investigational therapies. Results: PRAME demonstrates high specificity and sensitivity in distinguishing melanoma from benign melanocytic proliferations, particularly in challenging subtypes such as acral, mucosal, and spitzoid lesions. Its overexpression correlates with poor prognosis in numerous malignancies. Therapeutically, PRAME’s HLA class I presentation enables T-cell-based targeting. Early-phase trials show promising results using PRAME-directed TCR therapies and bispecific ImmTAC agents. However, immune evasion mechanisms (i.e., heterogeneous antigen expression, immune suppression in the tumor microenvironment, and HLA downregulation) pose significant challenges to therapy. Conclusions: PRAME is a valuable biomarker for melanoma diagnosis and a promising target for immunotherapy. Its selective expression in malignancies supports its clinical utility in diagnostic precision, prognostic assessment, and precision oncology. Ongoing research aimed at overcoming immunological barriers will be essential for optimizing PRAME-directed therapies and establishing their place in the personalized management of melanoma. Full article

Sweet syndrome (SS) is a rare neutrophilic dermatosis often associated with hematologic malignancies, particularly myelodysplastic syndromes (MDSs). We report a case of SS-like dermatosis in a patient with MDS who subsequently developed peripheral T-cell non-Hodgkin lymphoma (NHL). We review the literature on Sweet syndrome to contextualize this atypical presentation Methods: We present a case report of a 77-year-old male with leukopenia and known MDS, admitted for a persistent, infiltrated erythematous eruption. The patient underwent repeated dermatologic assessments, and serial skin and bone marrow biopsies with histopathologic and immunohistochemical analysis. A literature review was also conducted, focusing on SS in association with hematologic malignancies, including T-cell NHL. Results: Initial skin biopsies were inconclusive, and SS was diagnosed clinically based on lesion morphology and a prompt response to corticosteroids, despite the absence of definitive neutrophilic infiltrates. During follow-up, the patient’s condition progressed with worsening cytopenias and recurrent febrile episodes. Repeat biopsies eventually confirmed the diagnosis of peripheral T-cell NHL with secondary hemophagocytic lymphohistiocytosis (HLH). Conclusions: This case illustrates the diagnostic uncertainty of SS-like eruptions in hematologic patients when histopathological findings are atypical or absent. Corticosteroid responsiveness may guide early diagnosis. Full article

Background and Clinical Significance: Cocaine-induced vasculitis (CIV), especially when associated with PR3-ANCA positivity, can be very similar both clinically and serologically to idiopathic granulomatosis with polyangiitis (GPA). The distinction between these entities is crucial due to the different etiologies, treatment strategies, and prognoses. We present a unique case of CIV that manifested exclusively in a previously dissected neck area—an example of the locus minoris resistance phenomenon—and was initially misinterpreted as skin melanoma recurrence. Case presentation: A 59-year-old man with a history of skin melanoma (pT4b, left pectoral region) and a previous modified radical neck dissection presented in 2024 with new onset of painful subcutaneous nodules and ulcerative lesions at the surgical site. The imaging procedures (CT and PET-CT) raised the suspicion of locoregional malignant recurrence. However, histology revealed necrotizing granulomatous inflammation without tumor cells. Extensive infectious and autoimmune investigations ruled out alternative causes. Subsequently, the patient developed a perforation of the nasal septum and ulcers on the oral mucosa. PR3-ANCA was strongly positive (up to 49 U/mL). Urine toxicology revealed intranasal cocaine use. A diagnosis of cocaine-induced PR3-ANCA vasculitis was made. After immunosuppressive therapy (high-dose glucocorticoids and methotrexate) and substance withdrawal counseling, the patient showed significant clinical improvement. Conclusions: This case highlights the importance of including CIV in the differential diagnosis of granulomatous or ulcerative lesions, especially when they are localized to previous surgical sites. The presentation illustrates the concept of locus minoris resistentiae and highlights the role of toxicological testing in atypical ANCA-positive disease. Full article

Background: Ultrasound and colour Doppler are adjuvant techniques widely used in clinical settings in obstetrics, cardiology, and others. Its use in dermatology is more incipient although it presents potential for clinical use namely in dermo-oncology. Objective: This study explores the usefulness of the combination of cutaneous ultrasound with Doppler after digital dermatoscopy in distinguishing between most common benign and malignant skin lesions, focusing on the importance of different vascular patterns. To streamline the diagnostic process, we propose a combined imaging workflow that integrates dermoscopic findings with vascular and structural data obtained via Doppler ultrasound. Methods: In total, 42 benign and malignant skin tumours were analysed in a population of 42 patients using a Fotofinder digital dermatoscopy device and a GE ultrasound machine with a high-frequency probe (20 MHz). Doppler was applied to assess lesion vascularization and identify distinct blood flow patterns. Results: Cutaneous ultrasound revealed that malignant lesions often exhibited intense and disorganized vascularization, while benign lesions displayed more ordered and peripheral blood flow patterns. In all of our cases, ultrasound with Doppler imaging clarified the uncertainties raised by dermatoscopy. Conclusions: The use of Doppler cutaneous ultrasound after digital dermatoscopy proved to be a valuable tool to aid the diagnosis in dermatology, as it improved the differential diagnosis between benign and malignant lesions, contributing to the establishment of the final diagnosis in the studied cases. Full article

Background and Clinical Significance: Angioleiomyoma (ALM) is a benign tumor that generally presents as a single lesion and, according to the updated WHO classification, includes the following three histological subtypes: solid (or capillary), cavernous, and venous. Typically, ALMs are described as well-defined nodules in the lower extremities but are unusually located in the acral locations and toes. We summarize two cases of ALM and perform a systematic review to provide foot surgeons with the most up-to-date and useful information on the epidemiological aspects, anatomical distribution, and specific histological subtypes of ALM in the foot. Materials and Methods: A systematic review was carried out according to the criteria of a PICO framework, and a systematic search and data processing were carried out according to the PRISMA guidelines. We analyzed patient demographics, clinical characteristics, diagnostic workup, treatment, and clinical outcomes. Each one of the included articles was independently assessed for methodological quality and risk of bias by an independent evaluator. The risk of bias of the included studies was assessed based on their characteristics. Results: This systematic review included 14 case series with 172 reported cases of ALM. One hundred and seventy-two (18.57%) were cases of ALM located on foot, excluding the ankle region. The female-to-male ratio was 1.48. The most common location was the hindfoot (41.5%), followed by the forefoot (20.2%) and the midfoot (8.9%). In 29.4% of cases, the location of the lesions could not be determined. The most frequent location of the lesions was subcutaneous (69%), followed by subaponeurotic (16.5%) and skin (14.5%) locations. The most frequent histological presentation was the solid histologic subtype (65%), followed by the venous subtype (21%) and the cavernous subtype (14%), respectively. Of the total reported cases of ALM located in foot, 63.1% presented as solid painful lesions. Calcified presentations occurred in 7% of cases, with more than half of the cases located in the hindfoot. Surgical excision was the treatment of choice in the two herein reported cases of solid ALM located in the hindfoot, one of them with a calcified presentation. No recurrence was observed in either case after two and five years of follow-up, respectively. All cases reviewed after surgical excision showed a low recurrence rate with a favorable prognosis regardless of the histological subtype and a very rare tendency toward malignancy. Conclusions: ALMs of the foot present as well-defined, painful nodules in the subcutaneous tissue of middle-aged women. Solid histological subtypes are the most prevalent. Histopathological analysis is usually essential for confirmation. Treatment consists primarily of direct excision, with remarkably low recurrence rates. Full article

In the preceding and early stages of cancer progression, local drug delivery to pre-cancerous and cancerous skin lesions may be applied as an alternative or supplementary therapy. At present, 5-Fluorouracil, imiquimod, and tirbanibulin creams and ointments have established their place in practice, while several other active pharmaceutical ingredients (APIs) (e.g., calcipotriol, tretinoin, diclofenac) have been repurposed, used off-label, or are currently being investigated in mono- or combined chemotherapies of skin cancers. Apart from them, dozens to hundreds of therapeutics of natural and synthetic origin are proven to possess anti-tumor activity against melanoma, squamous cell carcinoma (SCC), and other skin cancer types in in vitro studies. Their clinical introduction is most often limited by low skin permeability, challenged targeted drug delivery, insufficient chemical stability, non-selective cytotoxicity, or insufficient safety data. A variety of prodrug and nanotechnological approaches, including vesicular systems, micro- and nanoemulsions, solid lipid nanoparticles, nanostructured lipid carriers, polymeric nanoparticles, and others, offer versatile solutions for overcoming the biophysical barrier function of the skin and the undesirable physicochemical nature of some drug molecules. This review aims to present the most significant aspects and latest achievements on the subject. Full article

Background: Pigmented superficial skin lesions pose a persistent diagnostic challenge due to overlapping clinical and dermoscopic appearances between benign and malignant entities. While histopathology remains the gold standard, there is growing interest in non-invasive imaging models that can preoperatively stratify malignancy risk. This methodological pilot study was designed to explore the feasibility and initial diagnostic performance of a novel radiology-adapted logistic regression approach. To develop and preliminarily evaluate a new logistic model integrating both structural (lesion size, depth) and vascular (Doppler patterns) ultrasonographic features for non-invasive risk stratification of pigmented superficial skin lesions. Material and Methods: In this prospective single-center pilot investigation, 44 patients underwent standardized high-frequency grayscale and Doppler ultrasound prior to excisional biopsy. Lesion size, depth, and vascularity patterns were systematically recorded. Three logistic regression models were constructed: (1) based on lesion size and depth, (2) based on vascularity patterns alone, and (3) combining all parameters. Model performance was assessed via ROC curve analysis. Intra-observer reliability was determined by repeated measurements on a random subset. Results: The lesion size and depth model yielded an AUC of 0.79, underscoring the role of structural features. The vascularity-only model showed an AUC of 0.76. The combined model demonstrated superior discriminative ability, with an AUC of approximately 0.85. Intra-observer analysis confirmed excellent repeatability (κ > 0.80; ICC > 0.85). Conclusions: This pilot study introduces a novel logistic framework that combines grayscale and Doppler ultrasound parameters to enhance non-invasive malignancy risk assessment in pigmented superficial skin lesions. These encouraging initial results warrant larger multicenter studies to validate and refine this promising approach. Full article

Segmentation of skin lesions in dermoscopic images is critical for the accurate diagnosis of skin cancers, particularly malignant melanoma, yet it is hindered by irregular lesion shapes, blurred boundaries, low contrast, and artifacts, such as hair interference. Conventional deep learning methods, typically based on UNet or Transformer architectures, often face limitations in regard to fully exploiting lesion features and incur high computational costs, compromising precise lesion delineation. To overcome these challenges, we propose SGNet, a structure-guided network, integrating a hybrid CNN–Mamba framework for robust skin lesion segmentation. The SGNet employs the Visual Mamba (VMamba) encoder to efficiently extract multi-scale features, followed by the Dual-Domain Boundary Enhancer (DDBE), which refines boundary representations and suppresses noise through spatial and frequency-domain processing. The Semantic-Texture Fusion Unit (STFU) adaptively integrates low-level texture with high-level semantic features, while the Structure-Aware Guidance Module (SAGM) generates coarse segmentation maps to provide global structural guidance. The Guided Multi-Scale Refiner (GMSR) further optimizes boundary details through a multi-scale semantic attention mechanism. Comprehensive experiments based on the ISIC2017, ISIC2018, and PH2 datasets demonstrate SGNet’s superior performance, with average improvements of 3.30% in terms of the mean Intersection over Union (mIoU) value and 1.77% in regard to the Dice Similarity Coefficient (DSC) compared to state-of-the-art methods. Ablation studies confirm the effectiveness of each component, highlighting SGNet’s exceptional accuracy and robust generalization for computer-aided dermatological diagnosis. Full article

Introduction: Acute Myeloid Leukemia (AML) is a hematologic malignancy characterized by the clonal expansion of myeloid progenitors. While it primarily affects the bone marrow, extramedullary relapse occurs in 3–5% of cases, and it is linked to poor prognosis. Central nervous system (CNS) involvement presents diagnostic challenges due to nonspecific symptoms. CNS manifestations include leptomeningeal dissemination, nerve infiltration, parenchymal lesions, and myeloid sarcoma, occurring at any disease stage and frequently asymptomatic. Methods: A 62-year-old man with a recent history of AML in remission presented with diplopia and aching paresthesias in the left periorbital region spreading to the left frontal area. The diagnostic workup included neurological and hematological evaluation, lumbar puncture, brain CT, brain magnetic resonance imaging (MRI) with contrast, and dermatological evaluation with skin biopsy due to the appearance of nodular skin lesions on the abdomen and thorax. Results: Neurological evaluation showed hypoesthesia in the left mandibular region, consistent with left trigeminal nerve involvement, extending to the periorbital and frontal areas, and impaired adduction of the left eye with divergent strabismus in the primary position due to left oculomotor nerve palsy. Brain MRI showed an equivocal thickening of the left oculomotor nerve without enhancement. Cerebrospinal fluid (CSF) analysis initially showed elevated protein (47 mg/dL) with negative cytology; a repeat lumbar puncture one week later detected leukemic cells. Skin biopsy revealed cutaneous AML localization. A diagnosis of AML relapse with CNS and cutaneous localization was made. Salvage therapy with FLAG-IDA-VEN (fludarabine, cytarabine, idarubicin, venetoclax) and intrathecal methotrexate, cytarabine, and dexamethasone was started. Subsequent lumbar punctures were negative for leukemic cells. Due to high-risk status and extramedullary disease, the patient underwent allogeneic hematopoietic stem cell transplantation. Post-transplant aplasia was complicated by septic shock; the patient succumbed to an invasive fungal infection. Conclusions: This case illustrates the diagnostic complexity and poor prognosis of extramedullary AML relapse involving the CNS. Early recognition of neurological signs, including cranial nerve dysfunction, is crucial for timely diagnosis and management. Although initial investigations were negative, further analyses—including repeated CSF examinations and skin biopsy—led to the identification of leukemic involvement. Although neuroleukemiosis cannot be confirmed without nerve biopsy, the combination of clinical presentation, neuroimaging, and CSF data strongly supports the diagnosis of extramedullary relapse of AML. Multidisciplinary evaluation remains essential for detecting extramedullary relapse. Despite treatment achieving CSF clearance, the prognosis remains unfavorable, underscoring the need for vigilant clinical suspicion in hematologic patients presenting with neurological symptoms. Full article

This paper proposes a hybrid method for skin lesion classification combining deep learning features with conventional descriptors such as HOG, Gabor, SIFT, and LBP. Feature extraction was performed by extracting features of interest within the tumor area using suggested fusion methods. We tested and compared features obtained from different deep learning models coupled to HOG-based features. Dimensionality reduction and performance improvement were achieved by Principal Component Analysis, after which SVM was used for classification. The compared methods were tested on the reference database skin cancer-malignant-vs-benign. The results show a significant improvement in terms of accuracy due to complementarity between the conventional and deep learning-based methods. Specifically, the addition of HOG descriptors led to an accuracy increase of 5% for EfficientNetB0, 7% for ResNet50, 5% for ResNet101, 1% for NASNetMobile, 1% for DenseNet201, and 1% for MobileNetV2. These findings confirm that feature fusion significantly enhances performance compared to the individual application of each method. Full article

A 10-year-old intact female Bichon Frise presented with multiple firm skin nodules on all four limbs. The nodules progressively increased in number and size over seven months. Diagnostic tests included cytology of fine-needle aspirates, histopathology of skin biopsies, radiography, and abdominal ultrasonography. Cytology revealed spindle-shaped mesenchymal cells and extracellular matrix components, and histopathology confirmed ND characterized by mature collagen deposition without evidence of malignancy. Ultrasonography detected multiple kidney cysts bilaterally, although their exact nature (benign or malignant) could not be confirmed histologically. Genetic analysis was performed, revealing no mutation in the traditionally implicated FLCN gene but multiple nonsynonymous mutations in the BRCA2 gene. This case suggests a potential association between BRCA2 gene mutations and the development of ND with renal cystic lesions, broadening the known genetic causes beyond the commonly reported FLCN mutation. Regular genetic screening and close monitoring of dermatological and renal conditions in atypical breeds are recommended. To the best of current knowledge, this is the first case report demonstrating ND and renal cysts associated with BRCA2 mutations in a Bichon Frise. Full article

Background/Objectives: Skin adnexal tumors (SATs) are rare neoplasms originating from sebaceous glands, hair follicles, and sweat glands, often presenting diagnostic challenges due to their histopathological diversity and clinical resemblance to other lesions. This epidemiological and clinicopathological study aimed to evaluate SATs diagnosed between January 2018 and October 2024 across two medical centers in Turkey. Methods: A total of 652 cases were analyzed based on demographic features, tumor size, anatomical localization, and histological subtypes per the 2018 WHO classification. The study also explored the predictors of malignancy, including tumor size and multifocality. Results: Among the cases, 98% were benign and 2% malignant. Sebaceous tumors were the most common (34.5%), followed by eccrine/apocrine (34.2%) and follicular tumors (31.3%). Benign tumors showed a slight female predominance (56.6%), while malignant tumors were more frequent in males (61.5%). The majority of tumors were located in the head and neck region (84.6%), and a tumor size >20 mm was significantly associated with malignancy. Conclusions: This study, one of the largest series from Turkey, highlights the importance of clinicopathological correlation in SATs. It contributes to the literature by identifying size-based cut-off values for malignancy prediction and by assessing interobserver agreement, multifocality, and tumor subtype distribution. Full article

Cutaneous neoplasia is among the most common illnesses in dogs and can pose significant risks. Accurate morphological diagnosis of these conditions is vital for effective treatment and management. In this retrospective study, a total of 3746 canine skin biopsies were submitted to a veterinary reference diagnostic laboratory and evaluated using histopathology. The variables assessed included age, sex, breed, lesion, location, and histopathological diagnosis. Non-neoplastic lesions accounted for 61% of all analyzed samples, while neoplastic tumors accounted for 39%. When looking at age, dogs ranging 3–6 years and 7–9 years had at least six times higher risk of developing malignant neoplasia compared to those aged 0–2 years. Among the malignant neoplasms, mast cell tumors, hemangiosarcoma, and squamous cell carcinoma were the most observed, representing 30%, 18%, and 12% of cases, respectively. The breeds most frequently affected by malignant neoplasms included Pit Bull Terriers, Boxers, and mixed breeds, all of which comprised the majority of mast cell tumor cases at 50.54%. These findings are novel in this field and may assist small animal veterinarians in making preliminary diagnoses, while also helping pet owners understand the importance of skin cancer and its early detection. Full article