Patients poorly recognize lesions of concern that are malignant melanomas: is self-screening the correct advice?

Background: Australia is known for its outdoor culture, with a large percentage of its population engaging in outdoor recreational activities, aquatic, non-aquatic and outdoor occupational activities. However, these outdoor enthusiasts face increased exposure to ultraviolet radiation (UVR), leading to a higher risk of skin cancer, including malignant melanoma (MM). Over the past 40 years, there has been a significant rise in skin cancer rates in Australia, with two out of three Australians expected to develop some form of skin cancer by age 70. Currently, skin cancer examinations are not endorsed in asymptomatic or low-risk individuals in Australia, with only high-risk individuals recommended to undergo regular skin examinations. Notably, the Melanoma Institute Australia suggests that one-half of patients identify MMs themselves, although this claim appears to be based on limited Australian data which may not reflect contemporary practice. Therefore this study sought to determine the percentage of patients who were able to self-identify MMs as lesions of concern when presenting for a skin cancer examination. Methods: Multi-site, cross-sectional study design incorporating a descriptive survey and total body skin cancer screening, including artificial intelligence by a skin cancer doctor. Results: A total of 260 participants with suspect MM lesions were biopsied, with 83 (31.9%) found to be melanomas. Of the true positive MMs only a small percentage of participants (21.7% specificity) correctly had concerns about the suspect lesion being a MM. These MMs were located primarily on the back (44.4%), shoulder (11.1%) and upper leg (11.1%). There was no significant difference in the size between those participants aware of a MM versus those who were not (P = 0.824, 24.6 vs 23.4 mm2). Significantly more males identified lesions of concern that were MMs as compared to females (P = 0.008, 61.1% vs 38.9%, respectively). With regard to true negatives males and females were similar (52.1% vs 47.9%, respectively). With regard to false negatives (n = 65), a greater percentage of males than females did not recognize the MM as a lesion of concern (66.2% vs 33.8%, respectively). Participants were more likely to correctly identify an invasive MM as opposed to an in situ MM (27.3% versus 21.3%). Conclusions: Only a small percentage of participants in this study were able to self-identify either in situ or invasive MM as a lesion of concern with a tendency to identify the more advanced, thicker MMs. Given that MM is associated with a high mortality and cost of treatment, particularly when invasive, the inability of lay persons to identify these cancerous lesions will likely lead to delayed treatment and a possible adverse outcome. We believe the current melanoma screening practices in Australian general practice should be revisited to improve patient outcomes with regard to MM. Additionally, prevention campaigns should include images and primary risk factors for MM.

Ulcerated CRTC1::TRIM11 cutaneous tumor with metastases.

CRTC1::TRIM11 cutaneous tumor (CTCT) is a rare skin tumor of uncertain differentiation. In the 49 reported cases, only four cases showed regional or distant metastasis, but follow-up remains limited. Herein, we present a case of metastatic CTCT with ulceration, a histological feature that has not been previously described. A 75-year-old male with a 2-month history of toe ulceration underwent a shave biopsy, which showed a dermal nodular neoplasm that was immunoreactive for SOX10 and S100, negative for Melan-A, and was initially diagnosed as melanoma. Upon pathology review at our institution, the tumor was composed of intersecting fascicles and nests of epithelioid and spindle cells. Additional immunohistochemistry revealed immunoreactivity of the tumor for MiTF and NTRK and negativity for HMB-45 and PRAME. Next-generation sequencing identified CRTC1::TRIM11 fusion, leading to a revised diagnosis of CTCT. The patient proceeded to a toe amputation and sentinel lymph node (SLN) biopsy 5 months after the shave biopsy. The amputation showed residual CTCT and a focus on lymphovascular invasion. The SLN revealed multifocal subcapsular metastases. The patient was started on adjuvant nivolumab and showed biopsy-proven recurrence in the right inguinal lymph nodes and imaging findings suspicious for pulmonary metastases 8 months after the excision. In summary, we present a case of CTCT with ulceration and lymphovascular invasion. We also provide additional evidence that a subset of CTCT behaves aggressively. The optimal surgical and medical treatments are unknown.

Sentinel Lymph Node Biopsy in Atypical Spitz Tumor: A Systematic Review.

BACKGROUND: Atypical Spitz tumor (AST) is an intermediate category among Spitz melanocytic neoplasms. Sentinel node biopsy (SNB) has been proposed in the clinical management of AST patients, but this approach remains the subject of debate. This systematic review aims to summarize the available evidence on SNB procedures in AST patients. METHODS: A comprehensive search was conducted, including MEDLINE/Pubmed, EMBASE, and SCOPUS, through April 2023. Case series, cohort studies, and case-control studies of AST patients were eligible for inclusion. PRISMA guidelines were followed. RESULTS: Twenty-two studies with a total of 756 AST patients were included. The pooled SNB prevalence was 54% (95% CI 32 to 75%), with substantial heterogeneity (I2 90%). The pooled SNB+ prevalence was 35% (95% CI 25 to 46%) with moderate heterogeneity (I2 39%). Lymphadenectomy was performed in 0-100% of SNB+ patients. Overall survival rates ranged from 93% to 100%, and disease-free survival ranged from 87% to 100% in AST patients. Overall and disease-free survival rates were 100% in SNB patients. Pooled survival estimates were not calculated due to the heterogeneous timing of the survival assessment and/or the small size of the subgroups. All studies clearly reported inclusion criteria and measured the condition in a standard way for all participants, but only 50% indicated valid methods for the identification of the condition. CONCLUSIONS: The oncologic behavior of AST is related to an almost always favorable outcome. SNB does not seem to be relevant as a staging or prognostic procedure, and its indication remains debatable and controversial.

Review of the comparative pathological and immunohistochemical features of human and canine cutaneous melanocytic neoplasms.

Melanocytic neoplasms originate from melanocytes and melanoma, the malignant form, is a common canine neoplasm and the most aggressive human skin cancer. Despite many similarities between these neoplasms in both species, only a limited number of studies have approached these entities in a comparative manner. Therefore, this review compares benign and malignant melanocytic neoplasms in dogs and humans, exclusively those arising in the haired skin, with regard to their clinicopathological, immunohistochemical and molecular aspects. Shared features include spontaneous occurrence, macroscopic features and microscopic findings when comparing human skin melanoma in the advanced/invasive stage and canine cutaneous melanoma, immunohistochemical markers and several histopathological prognostic factors. Differences include the apparent absence of active mutations in the BRAF gene in canine cutaneous melanoma and less aggressive clinical behaviour in dogs than in humans. Further studies are required to elucidate the aetiology and genetic development pathways of canine cutaneous melanocytic neoplasms. Evaluation of the applicability of histopathological prognostic parameters commonly used in humans for dogs are also needed. The similarities between the species and the recent findings regarding genetic mutations in canine cutaneous melanomas suggest the potential utility of dogs as a natural model for human melanomas that are not related to ultraviolet radiation.

Pediatric Melanoma Arising in a Background of Melanocytic Nevi.

Malignant melanoma is an aggressive neoplasm primarily involving the skin. They may arise de novo or from a premalignant melanocytic lesion. Melanomas are primarily known to occur in adults. Pediatric melanomas (PM) are rare and predominantly occur de novo following ultraviolet deoxyribonucleic acid (DNA) damage. They may also be associated with the presence of congenital melanocytic nevi. We report a rare case of a 6-year-old child with multiple melanocytic nevi subsequently diagnosed with melanoma of the back and metastatic disease.

Primary cutaneous SMARCA4-deficient undifferentiated malignant neoplasm: A rare case report and literature review.

Primary cutaneous SMARCA4-deficient undifferentiated malignant neoplasm (SD-UMN) is a rare and recently described entity characterized by the loss of expression of the SMARCA4 (BRG1) protein, which is involved in chromatin remodeling. SD-UMN presents a diagnostic challenge due to its rarity and unique histopathological and immunohistochemical features. In this report, we present a case of primary cutaneous SD-UMN in a 67-year-old man who presented with a rapidly growing, ulcerated, and bleeding nodule on his right cheek. Histopathological examination revealed a highly cellular dermal tumor consisting of pleomorphic epithelioid cells with prominent mitotic figures and necrosis, lacking any morphological evidence of differentiation. Immunohistochemical analysis showed a complete loss of SMARCA4 and SMARCA2 expression, while INI-1 expression remained intact. p53 was diffusely expressed, and p16 was completely absent. In addition, a range of markers, including high-molecular-weight cytokeratin, p63, SOX10, INSM1, MCPyV, NKX2.2, CD99, CDX2, CD56, ERG, NUT, desmin, androgen receptor, chromogranin, CD34, and CD43 were all negative. To date, only two cases of primary cutaneous SMARCA4-deficient undifferentiated tumors have been reported in the literature. Therefore, this case report adds to the limited body of knowledge on the clinical and histopathological features of this novel entity. The report highlights the importance of considering SD-UMN in the differential diagnosis of undifferentiated cutaneous tumors.

Atypical Presentation of Spitz Nevus: A Case Report.

Introduction: The Spitz nevus (SN) is an acquired melanocytic neoplasm composed of epithelioid and/or spindle cells, which tends to develop in childhood. In pediatric patients, it is usually located on the face and neck. Unusual locations have been found in the literature, such as the penis, mouth, and tongue, as well as 2 cases of ungual SN. Case Report: A 15-year-old male evaluated for dark brown-black longitudinal melanonychia that covered 40% of the nail, with pseudo-Hutchinson's sign, of 1 year of evolution. Discussion: The SN accounts for 1% of the melanocytic neoplasms. In the present paper, we show the third case of ungual SN never previously disclosed, which presents a zigzag pattern reported in the literature for its association with the pediatric population.

Painful schwannoma of scalp: A case report.

Schwannoma, also known as neurilemmoma, is a benign neoplasm of Schwann cells of the cranial or peripheral nerve sheath. Scalp involvement has been reported in 25% of patients with extracranial head and neck schwannomas, which can be misdiagnosed clinically as epidermal cyst or lipoma. In this article, we report a 32-year-old male presenting with a slow-growing painful subcutaneous mass on the left occipital scalps without any neurological symptoms. Pathological findings confirmed the diagnosis of schwannoma, and surgical removal resulted in the resolution of pain and lack of recurrence.

Reconstructive Procedures of the Auricular Concha after Cutaneous Oncologic Surgery: A Systematic Review.

Reconstruction of the auricular concha poses a challenge due to its difficult access and limited tissue flexibility; however, there are no recommendations in the literature on which reconstructive technique should be favored for this anatomical site. This systematic review intends to describe and compare the reconstructive techniques used in conchal bowl reconstruction following cutaneous oncologic surgery of this region, with regard to their complications and aesthetic results. In doing so, we aim to identify the best suited reconstructive procedure(s) for the conchal bowl. The six databases searched (PubMed, Scopus, Web of Science, Ovid, SciELO, and CENTRAL) yielded twelve eligible studies that explored the revolving door flap, split-thickness skin grafts (STSG), full-thickness skin grafts (FTSG), second intention healing, the preauricular translocation flap, subcutaneous pedicle grafts, and other local flaps. Qualitative synthesis of the results concluded that the revolving door flap could be the reconstructive procedure of choice for the auricular concha, following skin cancer excision. It has a low risk of necrosis, infection, and postoperative hemorrhage, as well as excellent aesthetic outcomes. STSG may be used as an alternative. Nonetheless, due to the low sample size and the high risk of bias in some studies, further investigations must be conducted on this subject.

Endocrine Mucin-Producing Sweat Gland Carcinoma: Case Presentation with a Comprehensive Review of the Literature.

(1) Background: Endocrine Mucin-Producing Sweat Gland Carcinoma (EMPSGC) is a rare, low-grade, neuroendocrine-differentiated, cutaneous adnexal tumor, officially recognized by the World Health Organization (WHO) Skin Tumors Classification in 2018 as a separate entity and homologue of endocrine ductal carcinoma in situ (eDCIS)/solid papillary carcinoma of the breast. Although it is more frequent in the female sex, between 60 and 70 years old, in the peri-orbital region, EMPSGC has also been described in the male sex, in subjects under 60 and over 80, and in extra-eyelid localizations (cheek, temple, scalp), but also in extra-facial localizations (chest and scrotum). (2) Methods: We present the clinical case of a 71-year-old woman with an undated lesion of the scalp, which presented as a nodule, skin-colored, and 2.5 cm in maximum diameter. We also conduct a comprehensive literature review from 1997 to the end of 2022, consulting PubMed, Scopus, Web of Science (WoS), and Google Scholar using the following keywords: "Endocrine mucin-producing sweat gland carcinoma" and/or "EMPSGC" and/or "skin" and "cutaneous neoplasms". In addition, we followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A total of 253 patients were recorded; 146 were females (57.7%) and 107 were males (42.2%). The vast majority of the lesions were in the eyelids (peri-ocular region), and only a minority of cases involved the cheeks, supra-auricular, retro-auricular, and occipital region, with very rare cases in the scalp, to which the present is also added. (4) Conclusions: The morphological and immunophenotypical features are essential both for the correct diagnosis and to be able to classify this lesion among the corresponding eDCIS/solid papillary carcinoma of the breast, with neuroendocrine differentiation. Recent papers have attempted to shed light on the molecular features of EMPSGC, and much remains to be conducted in the attempt to subtype the molecular profiles of these entities. Future studies with large case series, and especially with molecular biology techniques, will be needed to further add information about EMPSGC and its relationship in the PCMC spectrum.

Store-and-Forward Teledermatology for Assessing Skin Cancer in 2023: Literature Review.

BACKGROUND: The role of teledermatology for skin lesion assessment has been a recent development, particularly, since the COVID-19 pandemic has impacted the ability to assess patients in person. The growing number of studies relating to this area reflects the evolving interest. OBJECTIVE: This literature review aims to analyze the available research on store-and-forward teledermatology for skin lesion assessment. METHODS: MEDLINE was searched for papers from January 2010 to November 2021. Papers were searched for assessment of time management, effectiveness, and image quality. RESULTS: The reported effectiveness of store-and-forward teledermatology for skin lesion assessment produces heterogeneous results likely due to significant procedure variations. Most studies show high accuracy and diagnostic concordance of teledermatology compared to in-person dermatologist assessment and histopathology. This is improved through the use of teledermoscopy. Most literature shows that teledermatology reduces time to advice and definitive treatment compared to outpatient clinic assessment. CONCLUSIONS: Overall, teledermatology offers a comparable standard of effectiveness to in-person assessment. It can save significant time in expediting advice and management. Image quality and inclusion of dermoscopy have a considerable bearing on the overall effectiveness.

Implementation of artificial intelligence for the detection of cutaneous melanoma within a primary care setting: prevalence and types of skin cancer in outdoor enthusiasts.

Background: There is enthusiasm for implementing artificial intelligence (AI) to assist clinicians detect skin cancer. Performance metrics of AI from dermoscopic images have been promising, with studies documenting sensitivity and specificity values equal to or superior to specialists for the detection of malignant melanomas (MM). Early detection rates would particularly benefit Australia, which has the worlds highest incidence of MM per capita. The detection of skin cancer may be delayed due to late screening or the inherent difficulty in diagnosing early skin cancers which often have a paucity of clinical features and may blend into sun damaged skin. Individuals who participate in outdoor sports and recreation experience high levels of intermittent ultraviolet radiation (UVR), which is associated with the development of skin cancer, including MM. This research aimed to assess the prevalence of skin cancer in individuals who regularly participate in activities outdoors and to report the performance parameters of a commercially available AI-powered software to assess the predictive risk of MM development. Methods: Cross-sectional study design incorporating a survey, total body skin cancer screening and AI-embedded software capable of predictive scoring of queried MM. Results: A total of 423 participants consisting of surfers (n = 108), swimmers (n = 60) and walkers/runners (n = 255) participated. Point prevalence for MM was highest for surfers (6.48%), followed by walkers/runners (4.3%) and swimmers (3.33%) respectively. When compared to the general Australian population, surfers had the highest odds ratio (OR) for MM (OR 119.8), followed by walkers/runners (OR 79.74), and swimmers (OR 61.61) rounded out the populations. Surfers and swimmers reported comparatively lower lifetime hours of sun exposure (5,594 and 5,686, respectively) but more significant amounts of activity within peak ultraviolet index compared with walkers/runners (9,554 h). A total of 48 suspicious pigmented lesions made up of histopathology-confirmed MM (n = 15) and benign lesions (n = 33) were identified. The performance of the AI from this clinical population was found to have a sensitivity of 53.33%, specificity of 54.44% and accuracy of 54.17%. Conclusions: Rates of both keratinocyte carcinomas and MM were notably higher in aquatic and land-based enthusiasts compared to the general Australian population. These findings further highlight the clinical importance of sun-safe protection measures and regular skin screening in individuals who spend significant time outdoors. The use of AI in the early identification of MM is promising. However, the lower-than-expected performance metrics of the AI software used in this study indicated reservations should be held before recommending this particular version of this AI software as a reliable adjunct for clinicians in skin imaging diagnostics in patients with potentially sun damaged skin.

Diagnostic performance of augmented intelligence with 2D and 3D total body photography and convolutional neural networks in a high-risk population for melanoma under real-world conditions: A new era of skin cancer screening?

BACKGROUND: Convolutional neural networks (CNNs) have outperformed dermatologists in classifying pigmented skin lesions under artificial conditions. We investigated, for the first time, the performance of three-dimensional (3D) and two-dimensional (2D) CNNs and dermatologists in the early detection of melanoma in a real-world setting. METHODS: In this prospective study, 1690 melanocytic lesions in 143 patients with high-risk criteria for melanoma were evaluated by dermatologists, 2D-FotoFinder-ATBM and 3D-Vectra WB360 total body photography (TBP). Excision was based on the dermatologists' dichotomous decision, an elevated CNN risk score (study-specific malignancy cut-off: FotoFinder >0.5, Vectra >5.0) and/or the second dermatologist's assessment with CNN support. The diagnostic accuracy of the 2D and 3D CNN classification was compared with that of the dermatologists and the augmented intelligence based on histopathology and dermatologists' assessment. Secondary end-points included reproducibility of risk scores and naevus counts per patient by medical staff (gold standard) compared to automated 3D and 2D TBP CNN counts. RESULTS: The sensitivity, specificity, and receiver operating characteristics area under the curve (ROC-AUC) for risk-score-assessments compared to histopathology of 3D-CNN with 95% confidence intervals (CI) were 90.0%, 64.6% and 0.92 (CI 0.85-1.00), respectively. While dermatologists and augmented intelligence achieved the same sensitivity (90%) and comparable classification ROC-AUC (0.91 [CI 0.80-1.00], 0.88 [CI 0.77-1.00]) with 3D-CNN, their specificity was superior (92.3% and 86.2%, respectively). The 2D-CNN (sensitivity: 70%, specificity: 40%, ROC-AUC: 0.68 [CI 0.46-0.90]) was outperformed by 3D CNN and dermatologists. The 3D-CNN showed a higher correlation coefficient for repeated measurements of 246 lesions (R = 0.89) than the 2D-CNN (R = 0.79). The mean naevus count per patient varied significantly (gold standard: 210 lesions; 3D-CNN: 469; 2D-CNN: 1324; p < 0.0001). CONCLUSIONS: Our study emphasises the importance of validating the classification of CNNs in real life. The novel 3D-CNN device outperformed the 2D-CNN and achieved comparable sensitivity with dermatologists. The low specificity of CNNs and the lack of automated counting of TBP nevi currently limit the use of augmented intelligence in clinical practice.

Solitary fibrofolliculoma on the nasal septum: a case report.

Fibrofolliculoma is a benign, perifollicular, connective tissue tumor that usually arises in the form of multiple lesions; it is rarely seen as a solitary lesion. The lesions are clinically asymptomatic, 2 to 4 mm skin-colored, soft dome-shaped papules. Here, we report a patient who visited our hospital with a palpable lesion on the nasal septum. The lesion did not cause pain upon palpation, and nasal endoscopy confirmed an irregular wart-like lesion measuring 6 × 6 mm in the left anterior nasal septum near the columella. Other otolaryngology findings were normal, and there were no similar lesions in other parts of the body. None of the patient's family members were known to have had such lesions. An excisional biopsy was performed on the mass for removal of the lesion, and histological examination confirmed the lesion as fibrofolliculoma. We report the first case of solitary fibrofolliculoma in the nasal septum in a healthy 62-year-old woman along with a review of the relevant literature.

Dermatofibrosarcoma Protuberans of the Scalp Mimicking Trichilemmal Cyst: A Case Report.

We present a case of a 47-year-old female with a swelling on her scalp that was at first thought to be trichilemmal cysts. After two years, she returned to her general practitioner with a larger scalp mass. Following a biopsy, histological analysis revealed dermatofibrosarcoma protuberans (DFSP). She then had the tumor completely removed, resulting in clean margins.

Integrated Safety Analysis on Skin Cancers among Patients with Psoriasis Receiving Ixekizumab in Clinical Trials.

INTRODUCTION: Limited data exist on skin cancer risk in patients with psoriasis using biologics. Here, we report treatment-emergent adverse events (TEAEs) of skin cancer in patients treated with ixekizumab from psoriasis clinical trials. METHODS: Integrated safety databases from 17 clinical trials of adults with moderate-to-severe psoriasis treated with ≥ 1 dose of ixekizumab for ≤ 5 years were used to analyze exposure-adjusted incidence rates (IRs) per 100 patient-years of exposure (PYE) and clinically characterize dermatologist-adjudicated skin cancer TEAEs. RESULTS: Of 6892 patients, 58 presented with ≥ 1 skin cancer TEAE (IR 0.3) with IRs remaining stable with longer ixekizumab exposure. Non-melanoma skin cancer (NMSC) was the most common event (IR 0.3) affecting 55 patients; of those, 44 had basal cell carcinoma (IR 0.2) and 16 had squamous cell carcinoma (IR 0.1). Two treatment-emergent melanoma events were identified; neither were classified as serious AEs. CONCLUSIONS: Incidence of skin neoplasms in patients with psoriasis treated with ixekizumab for ≤ 5 years was low, and among those events, NMSC was most common. Limitations included that longer exposure may be required to confirm risk of skin cancer and that the study exclusion criteria of several studies, which excluded patients with skin cancer events within 5 years prior to baseline, might limit interpretation of skin cancer risk in this cohort. These findings support the safety profile of ixekizumab for patients requiring long-term psoriasis control.

Eruptive basal cell carcinoma and lenalidomide: rising awareness among dermatologists.

Because of its higher level of safety compared to its parent medicine, thalidomide, lenalidomide (L) is chosen for the treatment of multiple myeloma. We report a patient who, within a month of using L, developed more than 10 basal cell carcinomas.

Extra-mammary Paget's disease of the penis.

Paget's disease was first described in 1874 as an eczematoid changes of the nipple associated with underlying breast carcinoma. Extra-mammary Paget's disease (EMPD) is rare with involvement of the male genitalia described in small case series and management options varying according to location and extent. The diagnosis of EMPD requires a high index of clinical suspicion and close liaison with the multidisciplinary team, particularly histopathology. We present two cases of EMPD affecting the male external genitalia that highlight important learnings in the presentation, diagnosis, and management of EMPD.