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Preferentially Expressed Antigen in Melanoma (PRAME), a member of the cancer/testis antigen family, is central to the field of skin cancer diagnostics and therapeutics. As a nuclear receptor and transcriptional regulator, PRAME plays a critical role in inhibiting retinoic acid signalling, which is essential for cell differentiation and proliferation. Its aberrant overexpression in various malignancies, particularly cutaneous melanoma, is associated with more aggressive tumour phenotypes, positioning PRAME as both a diagnostic and prognostic marker. In melanoma, PRAME is typically highly expressed, in contrast to its weak or absent expression in benign nevi, thereby improving the accuracy of differential diagnoses. The diagnostic value of PRAME extends to various lesions. It is significantly expressed in uveal melanoma, correlating to an increased risk of metastasis. In acral melanomas, especially those with histopathological ambiguity, PRAME helps to improve diagnostic accuracy. However, its expression in spitzoid and ungual melanocytic lesions is inconsistent and requires a comprehensive approach for an accurate assessment. In soft tissue sarcomas, PRAME may be particularly helpful in differentiating melanoma from clear cell sarcoma, an important distinction due to their similar histological appearance but different treatment approaches and prognosis, or in detecting dedifferentiated and undifferentiated melanomas. In non-melanoma skin cancers such as basal cell carcinoma, squamous cell carcinoma, and Merkel cell carcinoma, the variable expression of PRAME can lead to diagnostic complexity. Despite these challenges, the potential of PRAME as a therapeutic target in melanoma is significant. Emerging immunotherapies, including T-cell-based therapies and vaccines targeting PRAME, are being investigated to exploit its cancer-specific expression. Ongoing research into the molecular role and mechanism of action of PRAME in skin cancer continues to open new avenues in both diagnostics and therapeutics, with the potential to transform the management of melanoma and related skin cancers.

Psoriasis in adults is associated with an increased risk of metabolic disease. Various cardiometabolic comorbidities have been reported in childhood psoriasis, but only a few studies have analyzed the prevalence of metabolic syndrome. We performed a single-center prospective study investigating the prevalence of metabolic syndrome and insulin resistance in children with psoriasis. The prevalence of metabolic syndrome was evaluated in 60 pre-pubertal children with psoriasis (age: 3–10 years), accordingly to recently established criteria for the diagnosis of metabolic syndrome in children. Insulin resistance was considered altered when the homeostatic model assessment (HOMA-IR) for insulin resistance was ≥ 90th sex- and age-specific percentile and HOMA 2-IR was > 1.8. Eighteen (30%) children with psoriasis were found to have metabolic syndrome. Sixteen (27%) children were found to have insulin resistance.Conclusion: Our data underline the importance of assessing metabolic syndrome not only in adults and adolescents but also in young children with psoriasis.What is Known:• Psoriasis in adults is strongly associated with metabolic disease and insulin resistance.• Very limited data are available on the prevalence of metabolic syndrome and insulin resistance in pre-pubertal children with psoriasis.What is New:• This study reports that in pre-pubertal children with psoriasis, there is a high prevalence of metabolic syndrome and insulin resistance.• In children with psoriasis metabolic syndrome risk factors should be assessed.

Background: Atopic dermatitis (AD) is a chronic inflammatory skin disease characterized by recurrent eczematous lesions and intense pruritus. AD patients are known to face a considerable disease burden, including physical and emotional limitations. There is still limited knowledge about daily implications in education and occupation. We describe disease social stigmatization by measuring bullying and self-isolation in students and professional discrimination in workers. Overall loss of productivity, either at school and at the workplace, was quantified as the sum of absenteeism (number of days AD sick leave) and presenteeism (number of days with decreased focus and functionality). Methods: An on-line web survey was sent to 3235 random recipients and 401 met the inclusion criteria (self-reporting AD and [greater than or equal to]12 yo). The survey domains included daily limitations, QoL, feelings and relationships, together with specific questions about bullying, discrimination and loss of productivity. Results: AD negatively affected QoL in 51.6% of respondents, whereas 68.8% considered AD as a real limit to daily routine. More in detail, 39.3% of students were victims of bullying and 33.9% of workers felt discriminated because of AD. On average, absenteeism in students was for 17.1 days/year (presenteeism: 19.5 days/year), whereas in workers, the estimate was 10.9 days/year (presenteeism: 13.1 days/year). Absenteeism and presenteeism were more pronounced in bullied/discriminated subjects. Conclusion: AD multidimensional implications deeply affect and undermine personal and professional fulfillments. Our results contribute to a better understanding of what living with AD means. Keywords: atopic dermatitis, discrimination, absenteeism, presenteeism

In the current classification of the World Health Organization (WHO), bone marrow mastocytosis (BMM) is a provisional variant of indolent systemic mastocytosis (ISM) defined by bone marrow involvement and absence of skin lesions. However, no additional diagnostic criteria for BMM have been proposed. Within the registry dataset of the European Competence Network on Mastocytosis, we compared characteristics and outcomes of 390 patients with BMM and 1175 patients with typical ISM. BMM patients were significantly older, predominantly male, had lower tryptase and lower burden of neoplastic mast cells, and displayed a higher frequency of allergic reactions, mainly triggered by Hymenoptera, than patients with typical ISM. The estimated 10-year progression-free survival of BMM and typical ISM was 95.9% and 92.6%, respectively. In BMM patients defined by WHO-based criteria, the presence of one B-Finding and tryptase level ≥125 ng/mL were identified as risk factors for progression in multivariate analyses. BMM patients without any of these risk factors were found to have better progression-free survival (p < 0.05) and better overall survival (p < 0.05) than other ISM patients. These data support the proposal to define BMM as a separate SM variant characterized by SM criteria, absence of skin lesions, absence of B-Findings, and tryptase levels <125 ng/mL.

Pediatric mastocytosis is a heterogeneous disease characterized by accumulation of mast cells in the skin and less frequently in other organs. Somatic or germline mutations in the KIT proto-oncogene are detected in most patients. Cutaneous mastocytosis is the most common form of the disease in children. In the majority of cases, skin lesions regress spontaneously around puberty. However, in few patients, mastocytosis is not a self-limiting disease, but persists into adulthood and can show signs of systemic involvement, especially when skin lesions are small-sized and monomorphic. Children with mastocytosis often suffer from mast cell mediator-related symptoms. Severe hypersensitivity reactions can also occur, mostly in patients with extensive skin lesions and blistering. In a substantial number of these cases, the triggering factor of anaphylaxis remains unidentified. Management of pediatric mastocytosis is mainly based on strict avoidance of triggers, treatment with H1 and H2 histamine receptor blockers, and equipment of patients and their families with epinephrine auto-injectors for use in severe anaphylactic reactions. Advanced systemic mastocytosis occurs occasionally. All children with mastocytosis require follow-up examinations. A bone marrow investigation is performed when advanced systemic mastocytosis is suspected and has an impact on therapy or when cutaneous disease persists into adulthood.

Background The increasing incidence of cutaneous melanoma (CM) is a significant public health issue. However, few studies have focused on how comorbidity patterns may influence the outcomes of CM patients. This study aimed to identify comorbidity patterns among CM patients and assess their impact on survival rates. Methods This retrospective population-based cohort study included all CM patients recorded in the regional Veneto Cancer Registry in 2019 and 2021. Comorbidity data (ICD-9-CM coding) were obtained from hospital discharge records and included 17 primary disease categories. Patients with at least two documented conditions were clustered via latent class analysis (LCA), with the optimal number of clusters determined via the Akaike information criterion (AIC). Results This population-based retrospective cohort study included 2,114 CM patients. Coexisting medical conditions were documented in 1,048 (49.6%) patients; multiple conditions were documented in 19.9% of the study cohort. Among these patients, the LCA identified three patterns: (1) cardio-endocrine-respiratory (20.96%); (2) pregnancy-psychosocial (29.97%); and (3) injury-multiorgan-multifactorial disorders (49.08%). Patients in the injury-multiorgan-multifactorial class had the highest mortality risk (HR = 3.08, 95% CI: 2.25–4.22). Conclusions Comorbidity class has a significant effect on the survival of CM patients. The incorporation of the comorbidity profile into clinical care strategies can improve prognostic accuracy and enhance patient management.

Background: Acral amelanotic melanomas (AAMs), a rare subset of melanomas located on acral sites such as the palms, soles, and subungual areas, are diagnostically challenging due to their lack of typical pigmentation and often benign clinical appearance. Misdiagnosis is common, leading to delays in treatment and potentially worse outcomes. This systematic review aims to synthesise evidence on cases of AAM initially misdiagnosed as other conditions, to better understand their clinical and epidemiological characteristics, diagnostic pitfalls, and management strategies. Methods: A comprehensive search of the MEDLINE/PubMed, EMBASE, and SCOPUS databases was conducted up to March 2024. Case reports and small case series of AAMs initially misdiagnosed as other conditions were included. Data on patient demographics, clinical presentation, and diagnostic methods were collected and analyzed. Results: Of the 152 records identified, 26 cases from 23 articles met the inclusion criteria. A demographic analysis revealed that the gender distribution appears to be perfectly balanced, with an age range of 38 to 91 years. Misdiagnoses included non-healing ulcers or traumatic lesions (37.5%), benign proliferative lesions (29.2%) and infectious lesions (20.8%). The foot was the most affected site (53.8%). Notably, a histological evaluation was performed in 50% of cases involving the upper extremities, in contrast to only 7.1% of cases involving the foot and 0% of cases of the heel. This discrepancy suggests a reluctance to perform biopsies in the lower extremities, which may contribute to a higher misdiagnosis rate in these areas. Conclusions: The underutilization of biopsy in the diagnosis of lower extremity lesions contributes significantly to the misdiagnosis and delay in treatment of AAMs. Especially when the clinical assessment and dermoscopy are inconclusive, biopsies of suspicious lesions are essential. Immunohistochemistry and markers such as PRAME are critical in differentiating melanoma from other malignancies such as clear cell sarcoma. This review highlights the need for increased vigilance and a proactive diagnostic approach to increase early detection rates and improve prognostic outcomes.

Localized scleroderma (LS), commonly known as morphea, presents a significant clinical challenge due to its chronic, inflammatory nature affecting the skin and potentially underlying tissues. This systematic review explores the innovative approach of combining laser therapy and injectable fillers, specifically hyaluronic acid, for the treatment of LS. We conducted a comprehensive literature review following PRISMA guidelines, examining articles from MEDLINE/PubMed to assess the combined efficacy of these treatments in improving both esthetic and functional outcomes for LS patients. The search yielded 64 articles, with six selected for in-depth analysis for a total of nine patients, covering a range of patient demographics and treatment types. Our review highlights cases where fractional CO2 laser therapy promoted long-term tissue remodeling and instances where hyaluronic acid fillers effectively addressed skin atrophy and volume loss, enhancing both immediate and long-lasting esthetic improvements. The synergy between these treatments suggests a promising dual approach, aiming to maximize esthetic outcomes and to improve the quality of life for LS patients. This review underscores the necessity of further research to establish a comprehensive, evidence-based clinical pathway integrating both treatments for managing LS, thereby enhancing patient satisfaction and addressing the multifaceted nature of this challenging dermatological condition.

Keratitis-ichthyosis-deafness syndrome (KID) is a rare genetic disorder characterized by the triad of hyperkeratosis, ichthyosis, and congenital prelingual sensorineural deafness, with less than 100 cases described in the literature. In addition to many other extra-cutaneous manifestations, these patients are burdened by two principal increased risk factors involving the skin: the risk of developing infections and the risk of developing malignant skin tumors, especially Squamous Cell Carcinoma and Trichilemmal tumors. We present the case of a 7-year-old girl with a unique genetic variant described to date, who developed 4 dyskeratotic neoformation. Since the dermatoscopic examination was not sufficient to exclude malignancy, excisional and punch biopsies were used. Nonetheless, healing was challenging, with wound dehiscence and infection onset. Ad hoc wound care management resorting to negative pressure therapy and advanced medical honey-based dressings was necessary to achieve complete wound healing.

We conducted a case–control study to analyse the association of psoriasis of recent onset with smoking habits, body mass index (BMI) and stressful life events. Cases (n=560; median age 38) were patients with a first diagnosis of psoriasis and a history of skin manifestations of no longer than two years after the reported disease onset. Patients with a new diagnosis of skin diseases other than psoriasis (n=690; median age 36) were selected as controls. The risk of psoriasis was higher in ex- and current smokers than in never-smokers, the relative risk estimates (OR) being 1.9 for ex-smokers and 1.7 for smokers. Smoking was strongly associated with pustular lesions (32 patients, OR=5.3 for smokers). The frequency of psoriasis varied significantly in relation to a family history of psoriasis in first degree relatives, BMI (OR=1.6 and 1.9 for over weighted, BMI 26–29, and obese, BMI ≥ 30, respectively) and stressful life event score (compared to the lower index quartile, the OR being 2.2 for index values ≥115). Risk estimates, when taking into consideration the combined effect of these factors with smoking habits, were consistent with a multiplicative model of risk combination with no significant statistical interaction.