Lamberto Zocchi

Article: An unusual case of pilar sheath acanthoma colliding with sebaceous hyperplasia - Italian Journal of Dermatology and Venereology 2021 May 28 - Minerva Medica - Journals

Background: Early diagnosis is the most effective intervention to improve the prognosis of cutaneous melanoma. Even though the introduction of dermoscopy has improved the diagnostic accuracy, it can still be difficult to distinguish some melanomas from benign melanocytic lesions. Digital dermoscopy monitoring can identify dynamic changes of melanocytic lesions: To date, some algorithms were proposed, but a universally accepted one is still lacking.Objectives: To identify independent predictive variables associated with the diagnosis of cutaneous melanoma and develop a multivariable dermoscopic prediction model able to discriminate benign from malignant melanocytic lesions undergoing digital dermoscopy monitoring.Methods: We collected dermoscopic images of melanocytic lesions excised after dermoscopy monitoring and carried out static and dynamic evaluations of dermoscopic features. We built two multivariable predictive models based on logistic regression and random forest.Results: We evaluated 173 lesions (65 cutaneous melanomas and 108 nevi). Forty‐two melanomas were in situ, and the median thickness of invasive melanomas was 0.35 mm. The median follow‐up time was 9.8 months for melanomas and 9.1 for nevi. The logistic regression and random forest models performed with AUC values of 0.87 and 0.89, respectively, were substantially higher than those of the static evaluation models (ABCD TDS score, 0.57; 7‐point checklist, 0.59). Finally, we built two risk calculators, which translate the proposed models into user‐friendly applications, to assist clinicians in the decision‐making process.Conclusions: The present study demonstrates that the integration of dynamic and static evaluations of melanocytic lesions is a safe approach that can significantly boost the diagnostic accuracy for cutaneous melanoma. We propose two diagnostic tools that significantly increase the accuracy in discriminating melanoma from nevi during digital dermoscopy monitoring.

A family history of melanoma greatly increases the risk of developing cutaneous melanoma, a highly aggressive skin cancer whose incidence has been steadily increasing worldwide. Familial melanomas account for about 10% of all malignant melanomas and display an inheritance pattern consistent with the presence of pathogenic germline mutations, among which those involving CDKN2A are the best characterized. In recent years, a growing number of genes, such as MC1R, MITF, CDK4, POT1, TERT, ACD, TERF2IP, and BAP1, have been implicated in familial melanoma. The fact that individuals harboring these germline mutations along with their close blood relatives have a higher risk of developing multiple primary melanomas as well as other internal organ malignancies, especially pancreatic cancer, makes cascade genetic testing and surveillance of these families of the utmost importance. Unfortunately, due to a polygenic inheritance mechanism involving multiple low-risk alleles, genetic modifiers, and environmental factors, it is still very difficult to predict the presence of these mutations. It is, however, known that germline mutation carriers can sometimes develop specific clinical traits, such as high atypical nevus counts and specific dermoscopic features, which could theoretically help clinicians predict the presence of these mutations in prone families. In this review, we provide a comprehensive overview of the high- and intermediate-penetrance genes primarily linked to familial melanoma, highlighting their most frequently associated non-cutaneous malignancies and clinical/dermoscopic phenotypes.