Search

BackgroundS100A8 is a melanoma biomarker expressed in the melanoma-associated epidermal keratinocytes, but its diagnostic utility has not been compared with other biomarkers, including PRAME.ObjectivesTo compare the utility of S100A8 and PRAME immunohistochemistry (IHC) in the differential diagnosis of melanoma and naevi in a case-control study.MethodsA previously described cohort of 209 melanomas (case samples) and naevi (control samples) dual-immunostained for S100A8 and PRAME were included. For S100A8, previously reported scores indicating the proportion of tumour-associated epidermis stained (0 = indeterminate; 1 = 0-4%; 2 = 5-25%; 3 = 26-50%; 4 = 51-75%; 5 = > 75%) were utilized. PRAME IHC was reviewed by at least two reviewers and a consensus score assigned, with score indicating the proportion of tumour stained (0 = indeterminate; 1 = 0%; 2 = 1-50%; 3 = > 50%). A positive test was defined as > 50% staining.ResultsThe area under the receiver operating characteristic curves for S100A8 (0.833) and PRAME (0.874) were not significantly different from each other (P = 0.22). The diagnostic sensitivity and specificity were 42.4% [95% confidence interval (CI) 32.6-52.8%] and 98.2% (95% CI 93.6-99.8%) for S100A8, and 79.8% (95% CI 70.5-87.2%) and 87.3% (95% CI 79.6-92.9%) for PRAME, respectively. A combined test requiring both S100A8 and PRAME IHC positivity had a sensitivity of 39.4% (95% CI 29.7-49.7%) and specificity of 99.1% (95% CI 95.0-100.0%).ConclusionsS100A8 and PRAME have utility in the diagnostic workup of melanoma, with S100A8 being more specific and PRAME being more sensitive when using this threshold. Our findings suggest that these two immunohistochemical markers may favourably complement one another to improve the detection of melanoma.

ABSTRACT In 1973, Dr. Martin C. Mihm, Jr. presented the finding that congenital melanocytic nevi, when viewed at low magnification, resemble superficial and deep perivascular dermatitis, forming the so‐called “pseudoinflammatory” pattern. One year earlier, Dr. Richard A. Sagebiel had put forward the concept of “pseudovascular spaces” in melanocytic nevi. A retrospective look at these early studies confirms that alert observation at the microscope can lead to a deeper understanding of the fundamental biology underlying melanocytic tumors. [ABSTRACT FROM AUTHOR]

ABSTRACT Dr. Martin C. Mihm, Jr.'s innovative work on the dysplastic nevus achieved a milestone in his chapter in the World Health Organisation Classification of Skin Tumours (WHO‐C). WHO‐C presents a dichotomous classification (high‐grade versus low‐grade dysplastic nevi) and a quantitative metric to assess melanocytic nuclear enlargement. The Duke classification is a related approach that provides mostly quantitative histopathologic criteria for dysplastic nevi and gives due weight to architectural features as well as cytology. This paper proposes and illustrates updated criteria for scoring and grading melanocytic dysplasia, incorporating some of the definitions and categories of WHO‐C, while refining the quantitative and architectural elements of the Duke grading system to facilitate more detailed and precise assessment of dysplastic nevi. [ABSTRACT FROM AUTHOR]

ABSTRACT Background Methods Results Conclusions There is growing evidence that the Spitz group of melanocytic neoplasms should be restricted to those harboring kinase receptor fusions and HRAS mutations/11p15 amplification. The presence of genomic alterations characteristic of conventional melanomas (BRAF and NRAS mutations) precludes a diagnosis of a Spitz neoplasm. It is often challenging to distinguish Spitz neoplasms from conventional melanomas with spitzoid morphology on histopathological grounds alone.We report a series of 70 consecutive melanocytic tumors in which targeted sequencing was indicated to distinguish Spitz from spitzoid neoplasms and to classify Spitz neoplasms along the biological spectrum.Final diagnoses incorporating molecular results included 12 conventional melanomas (nine of which with NRAS mutations), five Spitz melanomas, 35 atypical Spitz tumors, eight Spitz nevi, three melanocytic tumors with a MAP2K1 mutation, and seven desmoplastic Spitz nevi/tumors. There were significant discrepancies between initial diagnoses and final diagnoses after incorporating molecular results in 24 (34%) cases, including nine conventional melanomas favored to be Spitz neoplasms and nine Spitz neoplasms favored to be conventional melanomas.It is often not possible to reliably distinguish Spitz neoplasms from spitzoid melanocytic tumors without identifying their driver genomic alterations. Applying next‐generation sequencing in diagnostically problematic tumors improves diagnostic accuracy. [ABSTRACT FROM AUTHOR]

ABSTRACT Background Method Results Conclusion Melanocytic tumors with perineuriomatous differentiation may pose diagnostic challenges. This study explores characteristics of perineuriomatous melanocytic nevi, an entity merging features of perineurioma and melanocytic nevi. The aim is to elucidate histopathological features of perineuriomatous nevi to allow dermatopathologists to recognize them and differentiate them from other spindle cell lesions.This study reviews four cases (2020–2023) of melanocytic nevi with perineuriomatous components.All cases comprised adults (median age: 64.50, mean age: 60.25), with a female predominance, and exhibited clinical features characterized by irregular brown macules or papules on the trunk and extremities. Histopathologically, all lesions were compound, and biphasic patterns were evident, encompassing superficial nevoid and deeper spindled populations arranged in whorled fascicles and embedded in a sclerotic or myxoid stroma. Immunohistochemistry revealed expression of at least one perineuriomatous marker in deeper cells. Cases were assessed and compared with previously published cases for comprehensive insights. Three of our four cases demonstrated the presence of a junctional component that was smaller than the dermal component. We suggest that this unusual feature, which we term the “reverse shoulder”, may allow dermatopathologists to help consider perineurial differentiation in the appropriate setting.Perineuriomatous nevi can pose diagnostic challenges. This study contributes to the growing body of literature on perineuriomatous nevi, emphasizing their unique features and the importance of accurate diagnosis to avoid unnecessary interventions. [ABSTRACT FROM AUTHOR]

ABSTRACT Cutaneous neurocristic hamartoma (CNH) is a rare lesion composed of neural crest derivatives, thought to arise from aberrant migration and differentiation of neural crest cells. Recognition of CNH may be difficult, as they may resemble giant congenital nevus, and development of proliferative nodules (PNs) may raise concern for malignant transformation. Assessment of gene expression in CNH and PNs derived from CNH may offer insight into pathogenesis and suggest clinically useful biomarkers to identify these entities. This study investigates gene expression patterns in a congenital CNH and three separate PNs derived from that CNH with giant congenital nevus and malignant melanoma as comparator groups. Comparison of PN to CNH demonstrates downregulation of WIF1, which encodes as a tumor suppressor, and loss of WIF1 expression might explain the progression from CNH to PN. Comparison of gene expression in PN and CNH with giant congenital nevus and malignant melanoma shows relative overexpression of IGF2 and H19 in CNH and PN, suggesting that abnormal imprinting and IGF2 overexpression may have integral functions in the foundation of CNH. [ABSTRACT FROM AUTHOR]

Congenital melanocytic nevi (CMN) are pigmented lesions present at birth, varying widely in size and clinical impact. In rare instances, these nevi become visible during the first months of life, a phenomenon known as tardive melanocytic nevi (tardive CMN). Giant congenital melanocytic nevi (GCMN) are defined as nevi larger than 40 cm in projected adult size (PAS). Their association with the central nervous system (CNS) poses significant risks, including melanoma and neurocutaneous melanocytosis (NCM), where melanocytes infiltrate the CNS, potentially causing seizures, hydrocephalus, and, rarely, CNS melanoma. MRI is recommended for GCMN patients, particularly those with numerous satellite nevi or neurological symptoms, to detect CNS involvement. The Nevosurgery Network recommends MRI examinations in cases of GCMN (>40 cm PAS), the presence of over 20 concomitant nevi, and neurological symptoms requiring clarification. CMN can be associated with melanocyte accumulations and melanin deposits in the brain, spinal cord, and leptomeninges. [ABSTRACT FROM AUTHOR]

Simple Summary: Patients with skin lesions suspicious for skin cancer or atypical melanocytic nevi of uncertain malignant potential often present to dermatologists, who may have variable dermoscopy triage clinical experience. We evaluated the clinical utility of a digital dermoscopy image-based artificial intelligence algorithm (DDI-AI device) on the diagnosis and management of skin cancers. Thirty-six United States board-certified dermatologists evaluated 50 cases with clinical images and DDI of the same skin lesions (25 malignant and 25 benign), first without and then with knowledge of the DDI-AI device output. We identified that when using the DDI-AI device, management sensitivity, management specificity, diagnostic sensitivity, and diagnostic specificity all increased over baseline use of clinical images and dermoscopy images. Hence, the use of the DDI-AI device may quickly, safely, and effectively improve dermoscopy performance, skin cancer diagnosis, and management when used by dermatologists, independent of training and experience. Background: Patients with skin lesions suspicious for skin cancer or atypical melanocytic nevi of uncertain malignant potential often present to dermatologists, who may have variable dermoscopy triage clinical experience. Objective: To evaluate the clinical utility of a digital dermoscopy image-based artificial intelligence algorithm (DDI-AI device) on the diagnosis and management of skin cancers by dermatologists. Methods: Thirty-six United States board-certified dermatologists evaluated 50 clinical images and 50 digital dermoscopy images of the same skin lesions (25 malignant and 25 benign), first without and then with knowledge of the DDI-AI device output. Participants indicated whether they thought the lesion was likely benign (unremarkable) or malignant (suspicious). Results: The management sensitivity of dermatologists using the DDI-AI device was 91.1%, compared to 84.3% with DDI, and 70.0% with clinical images. The management specificity was 71.0%, compared to 68.4% and 64.9%, respectively. The diagnostic sensitivity of dermatologists using the DDI-AI device was 86.1%, compared to 78.8% with DDI, and 63.4% with clinical images. Diagnostic specificity using the DDI-AI device increased to 80.7%, compared to 75.9% and 73.6%, respectively. Conclusion: The use of the DDI-AI device may quickly, safely, and effectively improve dermoscopy performance, skin cancer diagnosis, and management when used by dermatologists, independent of training and experience. [ABSTRACT FROM AUTHOR]

ABSTRACT Background Aim Methods Results Conclusion Nevus of Ito and Mongolian spots are distinct clinical presentations of patchy dermal melanocytosis, characterized by similar dermatological manifestations that can pose diagnostic difficulties for clinicians.This review aims to consolidate current understanding and research advancements on these conditions to facilitate clinical diagnosis, differential diagnosis, and management.A comprehensive search of databases including PubMed and Google Scholar was conducted, along with an analysis of pertinent literature retrieved from reference lists spanning nearly four decades.Epidemiological, clinical, and pathological profiles exhibit nuanced differences between the two conditions, with unique expressions under electron microscopy and the regression possibility. It is noteworthy that most Mongolian spots naturally fade with advancing age, in contrast to nevus of Ito, which persist and may potentially evolve into malignant lesions. While picosecond laser treatment has shown greater efficacy than nanosecond lasers, the lower‐energy approach holds particular promise in pediatric cases. The therapeutic landscape for patchy dermal melanocytosis is evolving, shifting from selective photothermal action to photomechanical or subcellular photothermal modalities.This review underscores the importance of meticulous clinical assessment and the potential of innovative therapeutic approaches in managing these conditions. [ABSTRACT FROM AUTHOR]

Ultraviolet radiation (UVR) has been recognized as a potential trigger for the transformation of benign melanocytic nevi into melanoma. However, the mechanisms governing the formation and progression of melanocytic nevi remain poorly understood. This lack of understanding is partly due to the difficulty in isolating and culturing nevus tissues in vitro, resulting in a dearth of robust ex vivo models for nevi. Therefore, the establishment of a reliable melanocytic nevus model is imperative. Such a model is essential for elucidating nevus pathogenesis and facilitating the development of effective therapeutic interventions. Therefore, we have sought to establish an ex vivo nevus explant model to study UVR stimulation. And the structural integrity and tissue activity of the ex vivo nevi explant model was evaluated. We then observed melanogenesis and proliferation activity of the explants after UVR stimulation. There was less blister formation after Day 3 in nevi explants under our modified medium conditions. The nevi explant was able to maintain almost the same morphological structure and tissue activity as in vivo tissue within 24 h. Following UVR stimulation, we observed increased melanogenesis and proliferation activity in nevi explants. Nevi explants could serve as an ex vivo model for UVR‐induced nevi stimulation research. [ABSTRACT FROM AUTHOR]

Two patients, a 38-year-old woman and, a 74-year-old man, had ulceronodular basal cell carcinoma at the lower eyelid margin, directly opposite a nodular intradermal nevus at the upper lid margin. Both patients had the nevi for decades and the tumors for 2 and 3 years, respectively. The size of the tumors were 9 × 4 mm and 10 × 15 mm. When the eyelids were closed, the nevus corresponded to the ulcerated tumor cavity in both cases. The lesions were excised, and the defects were repaired. It is well-established that chronic mechanical irritation can increase sensitivity to epidermal carcinogenesis. In the cases described here, it remains speculative whether nevus-related trauma on the opposite eyelid played a role in the development of basal cell carcinoma. [ABSTRACT FROM AUTHOR]

The article in the Journal of Cutaneous Pathology discusses the case of a patient with proliferative nodules within a large congenital melanocytic nevus harboring a novel LMNA-RAF1 fusion. The patient had multiple similar nodules develop and regress over time, with one nodule excised for examination. The findings suggested an atypical, yet benign proliferative nodule, with molecular analysis revealing a LMNA::RAF1 fusion supporting a Spitz pathway lesion. The article highlights the importance of comprehensive molecular analysis in diagnosing ambiguous melanocytic tumors and discusses the potential treatment options for such cases. [Extracted from the article]

ABSTRACT Eruptive melanocytic nevi (EMN) have been reported in the setting of immunosuppression, chemotherapy, and bullous skin disease, including less commonly, Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). This case report presents a 4‐year‐old girl who developed agminated EMN and nail changes after TEN. A systematic review of the literature supports clinically appropriate follow‐up of EMN, as there is no reports of malignancy in EMN following SJS/TEN, nor reports of pediatric melanoma arising within EMN of any etiology. Further study of the possible correlation of nail changes with the development of EMN and better characterization of the dermoscopic features of EMN could improve monitoring and care of these patients. [ABSTRACT FROM AUTHOR]

Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare disorder characterized by the presence of melanocytic nevi, dysplastic cortical bony lesions, and fibroblast growth factor 23 (FGF23)-mediated hypophosphatemic rickets. Herein, we describe the diagnosis of an 8-year-old girl presenting with short stature, reduced lower limb mobility, and abnormal gait due to muscle weakness and constant pain in the legs. Biochemical parameters demonstrated hypophosphatemia, hyperphosphaturia, slight increase in parathyroid hormone (PTH), high levels of alkaline phosphatase, and elevated FGF23. Burosumab improved phosphate-wasting, serum phosphorus, alkaline phosphatase, and PTH, followed by a significant mineralization in vertebral bodies evidenced by radiographic assessment. Our report shows a long-term follow-up of CSHS with a notable improvement promoted by an anti-FGF23 therapy. [ABSTRACT FROM AUTHOR]

Objective. The primary aims of the study were to (1) explore the association of skin cancer and four ultraviolet radiation (UVR) indicators (sunbed use, healthcare data on diagnosed melanocytic nevi (MN) and actinic keratosis (AK), and latitude of birthplace), and (2) find factors other than UVR that could explain the increasing trend in incidence of skin cancers, including basal cell carcinoma (BCC), squamous cell carcinoma (SCC), and cutaneous malignant melanoma (CMM). Methods. This population‐based cohort study used self‐reported questionnaire data from the Stockholm Public Health Cohort, encompassing 103 questions, merged with data from Swedish national registers. The study population included almost 35,000 Swedish‐born people aged 30–66 years in 2014. Binomial logistic regression was employed for analysis. A forward stepwise regression was applied to select significant risk factors among all the factors included. We tentatively tested >30 variables separately for any relationship with each of the three skin cancers. A 5% level of significance was applied. Melanoma in situ and SCC in situ were excluded. Results. The four UVR‐related factors (sunbed use, being diagnosed with AK or MN, birthplace latitude) had a significant association with at least one of the three skin cancers that remained after adjustment including behavioural, social, hereditary, and medical factors. Sunbed use >10 times before age 30 years was related to all three skin cancers; SCC adjusted odds ratio (aOR) 1.66, 95% confidence interval (CI) 1.12–2.47, CMM (aOR 1.57, 95% CI 1.11–2.22), and the clearest dose‐response association with BCC (aOR 1.74, 95% CI 1.46–2.06). None of the examined lifestyle factors, except physical activity, had any significant associations with UVR indicators or skin cancer. Conclusion. We did not find any preventable explanatory cause other than UVR exposure for the increasing incidence of skin cancers. This result remained when adjusting for an array of possible confounders including behavioural, social, hereditary, and medical factors. [ABSTRACT FROM AUTHOR]

BACKGROUND: Serial excision remains the most commonly used surgical procedure for treating congenital melanocytic nevus (CMN). It is critical to remove as much of the lesion as possible with each procedure to reduce the number of procedures and to shorten the treatment duration. OBJECTIVE: To investigate the clinical efficacy of W-plasty serial excision for the repair of postoperative CMN defects. METHODS: A retrospective analysis of patients with medium CMN was conducted from April 2018 to March 2022. Treatment options were divided into elliptical serial excision (10 cases) and W-plasty serial excision (10 cases). RESULTS: Follow-up occurred over 6 months. The number of elliptical excision procedures was 2 to 4 (mean 2.9). The scarto-lesion length ratio was 1.5 to 2.0 (mean 1.7). The mean Vancouver Scar Scale (VSS) score was 5.4060.42. The number of W-plasty excision procedures was 2 to 3 (mean 2.2). The scar-to-lesion length ratio was 1.2 to 1.5 (mean 1.4). The mean VSS score was 2.70 6 0.26. W-plasty excision was superior to elliptical excision regarding the number of procedures and the effect on postoperative scars. CONCLUSION: W-plasty serial excision can be considered a suitable option for the excision of medium CMN, leading to excellent results. [ABSTRACT FROM AUTHOR]

Throughout world history, moles and birthmarks have occupied a special place as omens. Little is known of the cultural beliefs concerning the determinants of coercive control. In this ethnographic study of coercive control in Cambodia, the focus is on popular beliefs that moles are omens portending that men shall control women. Lachrymal moles (under the eye) signify women weeping as a result of misery. Penile moles portend men attracting, controlling, even abusing women. They have implications for reinterpreting an "insider" view of hegemonic masculinity and for culturally responsive interventions against gender-based violence. [ABSTRACT FROM AUTHOR]

Schimmelpenning syndrome, or epidermal nevus syndrome, is a rare, neurocutaneous disorder characterized by skin abnormalities, such as epidermal nevi, and involvement of the central nervous system, including intracranial tumors. There are only a few reported cases of intracranial tumors associated with Schimmelpenning syndrome. In most cases, a single nucleotide mutation in the RAS family proto-oncogenes, like HRAS or KRAS genes, can result in the genetic mosaicism that is responsible for the clinical manifestations of this syndrome. The authors present a case report of a woman with Schimmelpenning syndrome who sought medical help with complaints of progressive headache and dizziness. The radiological and histopathological findings indicated an astrocytoma, IDH-mutant (WHO grade 3). The molecular analysis revealed pathogenic changes in the oncogenic HRAS gene with a prevalence of 31%. The patient underwent surgical treatment and had no neurological sequelae. By presenting such a clinical case, attention is paid to the interrelationship between genetic syndromes and intracranial tumors. [ABSTRACT FROM AUTHOR]

This article highlights the work of Martin C. Mihm, MD, in the field of pediatric dermatology, specifically his contributions to caring for children with birthmarks and vascular anomalies. It focuses on a project that aimed to develop mouse models for testing strategies to treat giant congenital melanocytic nevi (GCMN) without surgery. Mihm's expertise as a dermatopathologist and his dedication to helping children made him an invaluable collaborator on this project. The article also discusses the establishment of clinics and enhanced therapies for children with GCMNs, as well as the research conducted using genetically engineered mouse models. Overall, Mihm's passion and expertise greatly contributed to the success of this project. [Extracted from the article]

Background: Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder that commonly involves skin, nerves, and skeletal system with increased neoplastic predisposition. This disease has been rarely associated with multiple congenital anomalies. Herein, we describe an Egyptian child with NF1 and coexistent bilateral congenital glaucoma, giant congenital melanocytic nevi (GCMN), alopecia, and hypospadias. Case presentation: A 2.5-year-old boy presented with developmental delay, back swelling, and multiple congenital anomalies. His father and two sisters were known to have NF1. The child was diagnosed with bilateral primary congenital glaucoma at the age of 3.5 months and underwent trabeculectomy with mitomycin C therapy. Examination at the age of 5 months revealed marked hypotonia, multiple GCMN, scanty café-au-lait macules, left upper eyelid plexiform neuroma and trichomegaly, hypertrichosis of left eyebrow, hypertelorism, depressed nasal bridge, left frontal scalp alopecia, and distal penile hypospadias. At the age of 8 months, brain imaging depicted a markedly dilated left lateral ventricle, and he underwent ventriculoperitoneal shunt surgery. The child developed back swelling at the age of 2.5 years, and a spinal magnetic resonance image showed bilateral multiple spinal neurofibromas in the paraspinal region with intraspinal extensions. A whole exome sequencing identified a heterozygous missense variant NM_001042492.3:c.1466A > G (NP_001035957.1:p.Tyr489Cys) in NF1 gene. Conclusions: The present case report adds to the knowledge of the phenotypic spectrum and variability of NF1 by reporting the association of multiple unusual congenital anomalies. Importantly, such congenital anomalies could be the first presenting features in patients with NF1 since cafe´-au-lait macules and other typical diagnostic criteria may not be apparent in the neonatal period and early infancy. Accordingly, NF1 should be considered in newborns with congenital glaucoma, GCMN, scalp alopecia, and hypospadias. [ABSTRACT FROM AUTHOR]

PRAME (PReferentially expressed Antigen in Melanoma) immunohistochemistry has proven helpful in distinguishing malignant from benign melanocytic tumors. We studied PRAME IHC expression in 46 thin melanomas and 39 melanocytic nevi, mostly dysplastic nevi. Twenty-six percent (26.09%) of the melanomas showed diffuse PRAME staining in over 76% of the tumor cells (4+), and 34.78% of the melanomas showed PRAME expression in over 51% of the tumor cells (3+ or 4+), while 8% were entirely negative for PRAME. No melanocytic nevi were PRAME 4+ or 3+. More than half of the nevi (64%) were entirely negative for PRAME staining, and 36% of the nevi showed staining expression in 1–25% (1+) or 26–50% of the cells (2+). No nevi were stained with a color intensity of 3, while 16.67% of the melanomas were stained with this color intensity. Most nevi (78.57%) were stained with an intensity of 1. With a lower positivity threshold, sensitivity increases with still reasonable specificity. The best accuracy was obtained for the 2+ positivity threshold. In conclusion, PRAME staining helps distinguish thin melanomas from dysplastic nevi. However, the threshold of positivity should be lowered in order not to miss thin melanomas. [ABSTRACT FROM AUTHOR]

Melanocytic nevi, commonly known as moles, are benign skin lesions that often occur in children and adolescents. Overall, they are less common in children compared to adults. Understanding the diagnosis and management of melanocytic nevi and risk factors for melanoma development is crucial for their early detection and appropriate treatment. This paper presents children's most common melanocytic nevi, including their epidemiology, morphology, diagnostic methods, and treatment. [ABSTRACT FROM AUTHOR]

This article discusses a rare case of amelanotic melanoma arising from a giant congenital melanocytic nevus (GCMN) in an infant. GCMN is a type of birthmark that can increase the risk of developing melanoma. The article highlights the challenges in diagnosing amelanotic melanoma and emphasizes the importance of fine needle aspiration (FNA) in providing an accurate diagnosis. The authors recommend close monitoring of GCMN and early treatment for better outcomes. They also discuss the differential diagnoses and the use of immunocytochemistry to confirm the diagnosis. [Extracted from the article]

Elasmobranch populations are in steep decline mainly due to overfishing bycatch, but parasites may accelerate the collapse of vulnerable and/or highly parasitized species. We therefore studied metazoan parasites of Rajidae from the northeast Atlantic: vulnerable Leucoraja fullonica, near‐threatened Raja brachyura, Raja clavata, Raja microocellata and Raja undulata, and least‐concerned Raja montagui and Leucoraja naevus. Overall prevalence varied from 19% for R. montagui to 100% for L. fullonica. Parasite communities differed between skate species, and prevalence and abundance were higher for L. fullonica, R. microocellata, and R. undulata. We recorded 11 parasite taxa in the study: three nematodes, six cestodes, one monogenean, and one myxosporean. Whatever the skate species, the parasite component community comprised at least two nematode taxa among Phocanema spp., Proleptus sp. and Anisakis simplex. DNA‐sequencing revealed that Phocanema azarasi and Phocanema krabbei both occurred in R. microocellata and R. undulata. Phocanema spp. was first recorded in L. fullonica, L. naevus, R. microocellata, R. montagui, and R. undulata, as Proleptus sp. in L. fullonica, and A. simplex in L. fullonica and R. clavata, Rockacestus sp. and Nybelinia sp. in R. undulata, and gill‐myxosporeans on L. fullonica, L. naevus, R. microocellata, and R. undulata. The occurrence of 16 new host–parasite associations suggests potential environmental changes. Information provided by trophically transmitted helminths confirmed an opportunistic skate diet based on crustaceans and fish. We discuss results in terms of host fitness loss, bioindicator role of parasites, and anisakiasis risk. We recommend incorporating parasitology in research to improve elasmobranch conservation. [ABSTRACT FROM AUTHOR]

Skin cancer is a significant public health issue, making accurate and early diagnosis crucial. This study proposes a novel and efficient hybrid deep‐learning model for accurate skin cancer diagnosis. The model first employs DeepLabV3+ for precise segmentation of skin lesions in dermoscopic images. Feature extraction is then carried out using three pretrained models: MobileNetV2, EfficientNetB0, and DenseNet201 to ensure balanced performance and robust feature learning. These extracted features are then concatenated, and the ReliefF algorithm is employed to select the most relevant features. Finally, obtained features are classified into eight categories: actinic keratosis, basal cell carcinoma, benign keratosis, dermatofibroma, melanoma, melanocytic nevus, squamous cell carcinoma, and vascular lesion using the kNN algorithm. The proposed model achieves an F1 score of 93.49% and an accuracy of 94.42% on the ISIC‐2019 dataset, surpassing the best individual model, EfficientNetB0, by 1.20%. Furthermore, the evaluation of the PH2 dataset yielded an F1 score of 94.43% and an accuracy of 94.44%, confirming its generalizability. These findings signify the potential of the proposed model as an expedient, accurate, and valuable tool for early skin cancer detection. They also indicate combining different CNN models achieves superior results over the results obtained from individual models. [ABSTRACT FROM AUTHOR]

Background/Aims: Congenital melanocytic nevi (CMN) are often unexpected discoveries at time of childbirth or adoption. Understanding how parents/guardians cope with these visible birthmarks can help clinicians better care for children and their families. Using qualitative methods, we sought to categorize early family responses to CMN and identify approaches to better engage with parents early in their child's life. Methods: Semi‐structured interviews were conducted within a broader study on shared decision making for families with children with CMN. Discussions included information on birth and early life experiences. Data was dual‐coded, inductively and deductively, and analyzed with the Parker and Endler framework exploring emotion‐, task‐, and avoidance‐oriented coping. Results: Fifteen parents of 13 children were interviewed. Parents described all three categories of coping. Emotions ranged from guilt, to neutrality, to positive responses seeing their child's CMN. Stress was lower in families with prior knowledge of CMN. Dermatology referral provided an opportunity for learning, but also triggered worry for some families. Conclusions: Parents process and react to the diagnosis of CMN with a range of emotions and coping styles. Dermatologists can utilize open‐ended questions to understand family emotions and provide families with tailored knowledge and resources. Early discussion of the diagnosis and family education are important support tools. [ABSTRACT FROM AUTHOR]

Epidermal nevi are common benign cutaneous hamartomas that may rarely demonstrate histopathologic evidence of epidermolytic hyperkeratosis (EHK), representing cutaneous mosaicism for pathogenic keratin variants. Rarely, individuals with linear epidermal nevi transmit to their children the inherited form of EHK, also known as epidermolytic ichthyosis, characterized by generalized erythema, blistering, and scaling at birth evolving to widespread hyperkeratosis. We present an updated review of reported cases of linear epidermal nevi with EHK exhibiting transmission of epidermolytic ichthyosis to guide important considerations in the care of individuals with epidermal nevi. Clinical characteristics of linear epidermal nevi do not reliably predict the presence of EHK. All reported cases of transmission to offspring have occurred in individuals with linear epidermal nevi involving more than one anatomic area suggesting increased reproductive risk with involvement of two or more anatomic sites. Therefore, genetics consultation is recommended for these individuals with biopsy‐confirmed EHK. For individuals with smaller areas of epidermal nevus involvement, the implications are less well known, though genetics consultation may still be considered for those interested in further discussion of general reproductive risk. [ABSTRACT FROM AUTHOR]

Simple Summary: Early detection of melanoma and differentiation from benign nevi can be challenging even for the most experienced dermatologists. To improve melanoma detection, artificial intelligence algorithms incorporating dermoscopy have been developed, but lack transparency and therefore have limited training value for healthcare providers. To address this, an automated approach utilizing imaging biomarker cues (IBCs), logical features extracted from images that mimic expert dermatologists' dermoscopic pattern recognition skills, was developed. This study excluded deep learning approaches to which IBCs are complementary or alternative. Ten participants assessed 78 dermoscopic images (39 melanomas and 39 nevi) first without IBCs and then with IBCs. Using IBCs significantly improved diagnostic accuracy: sensitivity increased significantly from 73.69% to 81.57% (p = 0.0051) and specificity increased from 60.50% to 67.25% (p = 0.059). These results indicate that incorporating IBCs can significantly enhance melanoma diagnosis, with potential implications for improved screening practices. Further research is needed to confirm these findings across a variety of healthcare providers. Incorporation of dermoscopy and artificial intelligence (AI) is improving healthcare professionals' ability to diagnose melanoma earlier, but these algorithms often suffer from a "black box" issue, where decision-making processes are not transparent, limiting their utility for training healthcare providers. To address this, an automated approach for generating melanoma imaging biomarker cues (IBCs), which mimics the screening cues used by expert dermoscopists, was developed. This study created a one-minute learning environment where dermatologists adopted a sensory cue integration algorithm to combine a single IBC with a risk score built on many IBCs, then immediately tested their performance in differentiating melanoma from benign nevi. Ten participants evaluated 78 dermoscopic images, comprised of 39 melanomas and 39 nevi, first without IBCs and then with IBCs. Participants classified each image as melanoma or nevus in both experimental conditions, enabling direct comparative analysis through paired data. With IBCs, average sensitivity improved significantly from 73.69% to 81.57% (p = 0.0051), and the average specificity improved from 60.50% to 67.25% (p = 0.059) for the diagnosis of melanoma. The index of discriminability (d′) increased significantly by 0.47 (p = 0.002). Therefore, the incorporation of IBCs can significantly improve physicians' sensitivity in melanoma diagnosis. While more research is needed to validate this approach across other healthcare providers, its use may positively impact melanoma screening practices. [ABSTRACT FROM AUTHOR]

BACKGROUND The presence of scalp nevi in children frequently causes apprehension, leading physicians and parents to consider unnecessary biopsies or excisions of scalp nevi in children. There are limited data on the dermoscopic characteristics of scalp nevi in Chinese children. OBJECTIVE The aim of this study was to comprehensively analyze the clinical and dermoscopic features of scalp nevi in this specific population of Chinese pediatric patients, with a focus on a single pediatric dermatologic surgery practice. METHODS This retrospective cohort study investigated patients who underwent surgical excision of scalp nevi. All patients underwent dermoscopy with photographic documentation. RESULTS Seventy-two scalp nevi in 56 Chinese children were included. Notably, no melanoma cases were detected. The parietal region (35, 48.6%) was the most frequently affected anatomical site. Clinical asymmetry was more prevalent in nevi with a diameter exceeding 6mm(p, .05). The predominant dermoscopic pattern observed was the globular pattern (50, 69.4%) while an intriguing rarity of a reverse-eclipse pattern (1, 1.4%). CONCLUSION This study revealed that scalp nevi in Chinese children usually did not exhibit concerning behavior. Increasing awareness of the clinical characteristics, dermoscopic features, and the natural progression of scalp nevi in children can potentially help reduce unnecessary surgical interventions. [ABSTRACT FROM AUTHOR]

Background: Phakomatosis pigmentovascularis (PPV) is a rare congenital syndrome. Only a few studies have reported the treatment of PPV, including a case using photodynamic therapy (PDT) to treat PPV‐associated port‐wine stains (PWS). Objective: To investigating the efficacy and adverse effects of hemoporfin‐PDT in PPV‐associated PWS. Methods: The efficacy and adverse effects in patients with PPV who underwent two sessions of hemoporfin‐PDT from January 2019 to December 2022 were retrospectively analyzed. Results: Twenty patients were included (13 females, 7 males, age range: 2–31 years; mean: 8.20 ± 8.92 years). Two, nine, seven, and two patients had PPV types Ia, IIa, IIb, and IIIa, respectively. After two treatments, the visual evaluation indicated the color of the PWS in 4, 5, 6, and 5 patients showed poor, fair, good, and excellent improvements, respectively. The combined good and excellent improvement rates in patients with PWS and pigmentary nevus overlapping in the same treatment area and in patients with PWS in the treatment areas only were 33.3% versus 87.5%, respectively, and were significantly different (p = 0.02). Minor side effects, such as edema, scabbing, hyperpigmentation, and blistering, were observed in some patients after PDT. Conclusion: Hemoporfin‐PDT is an effective treatment for PPV‐associated PWS. Patients with PWS and pigmentary nevus overlapping in the same treatment area showed poorer efficacy than patients with PWS in the treatment areas only. [ABSTRACT FROM AUTHOR]

The organoid nevus syndrome is a rare neurocutaneous syndrome typified by cutaneous sebaceous nevus, seizures and epibulbar choristomas. The condition is associated with multiple ocular abnormalities. Herein, the authors aim to study and report the ophthalmic features of cases diagnosed with organoid nevus syndrome. The authors retrospectively evaluated the records of patients with the organoid nevus syndrome who had presented to a tertiary care eye hospital in northern India. The ocular features were studied and entered in MS excel and the data were evaluated. Data of 13 patients with the organoid nevus syndrome were found. All 13 patients had cutaneous features in the form of Sebaceous nevus of Jadasson, 8 patients had alopecia of the scalp area, 2 had history seizures and 10 had arachnoid cysts on neuroimaging of the head. All 13 patients had a complex choristoma involving the ocular surface. We conclude that the most common ophthalmologic features associated with organoid nevus are complex choristoma of the bulbar surface, scleral coat calcification and upper eyelid coloboma. [ABSTRACT FROM AUTHOR]

The article in the Dermatology Online Journal discusses the rare conditions of phacomatosis spilorosea (PSR) and phacomatosis melanorosea (PMR), which are characterized by the presence of specific types of nevi. PSR and PMR are associated with unique extracutaneous anomalies, such as body asymmetry and central nervous system malformations. The study highlights new cases of PSR and PMR, expanding the understanding of these rare conditions and their clinical manifestations. [Extracted from the article]

Abstract Background Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder that commonly involves skin, nerves, and skeletal system with increased neoplastic predisposition. This disease has been rarely associated with multiple congenital anomalies. Herein, we describe an Egyptian child with NF1 and coexistent bilateral congenital glaucoma, giant congenital melanocytic nevi (GCMN), alopecia, and hypospadias. Case presentation A 2.5-year-old boy presented with developmental delay, back swelling, and multiple congenital anomalies. His father and two sisters were known to have NF1. The child was diagnosed with bilateral primary congenital glaucoma at the age of 3.5 months and underwent trabeculectomy with mitomycin C therapy. Examination at the age of 5 months revealed marked hypotonia, multiple GCMN, scanty café-au-lait macules, left upper eyelid plexiform neuroma and trichomegaly, hypertrichosis of left eyebrow, hypertelorism, depressed nasal bridge, left frontal scalp alopecia, and distal penile hypospadias. At the age of 8 months, brain imaging depicted a markedly dilated left lateral ventricle, and he underwent ventriculoperitoneal shunt surgery. The child developed back swelling at the age of 2.5 years, and a spinal magnetic resonance image showed bilateral multiple spinal neurofibromas in the paraspinal region with intraspinal extensions. A whole exome sequencing identified a heterozygous missense variant NM_001042492.3:c.1466A > G (NP_001035957.1:p.Tyr489Cys) in NF1 gene. Conclusions The present case report adds to the knowledge of the phenotypic spectrum and variability of NF1 by reporting the association of multiple unusual congenital anomalies. Importantly, such congenital anomalies could be the first presenting features in patients with NF1 since cafe´-au-lait macules and other typical diagnostic criteria may not be apparent in the neonatal period and early infancy. Accordingly, NF1 should be considered in newborns with congenital glaucoma, GCMN, scalp alopecia, and hypospadias.

The pathological evaluation of hepatic vascular lesions in children requires special consideration. Inconsistent terminology, rarity of pathology specimens and overlapping pathological features between various lesions may pose a serious diagnostic challenge. In this review, we highlight the importance of using the International Society for the Study of Vascular Anomalies (ISSVA) classification scheme to characterise these lesions. Selected entities are discussed, including hepatic vascular tumours exclusively seen in the paediatric age group, hepatic infantile haemangioma and hepatic congenital haemangioma. Vascular malformations, with emphasis on their syndromic associations (venous malformation in blue rubber bleb naevus syndrome) and complications (hepatocellular nodules in Abernethy malformation) are also covered. [ABSTRACT FROM AUTHOR]

NRAS Q61 mutations are driver genetic alterations associated with common melanocytic nevi. Herein, we describe a case of NRAS‐mutant melanocytic tumor with a blue nevus‐like morphology. A 71‐year‐old Japanese man presented with a 4.6‐mm nodule on his back. Histopathological examination revealed a dense distribution of spindle‐shaped melanocytes in the upper dermis and a sparse distribution of dendritic melanocytes in the mid‐dermis. The vertical periadnexal extension reached the deep dermis at the center of the tumor. A small junctional component, hyperpigmentation, sclerotic stroma, mild nuclear atypia, and a few mitotic figures were observed. Immunohistochemical examination revealed no PRAME expression and preserved p16 expression. Diffuse RASQ61R immunoreactivity was observed in these tumor cells. Nuclear β‐catenin expression was not observed. Targeted RNA sequencing revealed two mutations, NRAS c.182A>G (Q61R) and FGFR2 c.‐157A>G, but no other pathogenic alterations such as BRAF, GNAQ, GNA11, CTNNB1, PRKAR1A, or IDH1 mutations or kinase gene fusions. The histopathology fits that of compound‐type blue nevus, which is called "Kamino nevus"; however, this tumor was genetically considered to be on the spectrum of conventional acquired melanocytic nevi but not on that of blue nevi. Morphologically, NRAS‐driven melanocytic nevi resemble blue nevi without IDH1R132C coexistence. [ABSTRACT FROM AUTHOR]

Abstract Introduction To date, only a limited number of case reports have documented the co-occurrence of PNS and melanocytic nevus in the medical literature. This study aims to report an exceptionally rare case of posterior chest wall PNS in conjunction with a melanocytic nevus. Case presentation A 46-year-old female presented with a long-standing black lesion on her left upper posterior chest wall, that had become painful in the two months prior to presentation. There was a painful, dark blue, non-erythematous, and non-tender nodule on the left upper posterior chest wall. Based on the patient’s desire for cosmetic purposes, the lesion was excised totally with primary closure under local anaesthesia. Histopathological examination revealed intradermal melanocytic nevus with inflamed pilonidal sinus. Discussion The rarity of posterior chest wall PNS associated with nevi poses unique diagnostic and therapeutic challenges for clinicians. The distinct anatomical location, different from the conventional region, and the rare association between the two conditions may delay accurate diagnosis and result in mismanagement or inappropriate interventions. Conclusion The posterior chest wall PNS is another type of atypical PNS that is extremely rare. The association between PNS and blue nevus is a fascinating medical finding that deserves further investigation.