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Background: Xeroderma pigmentosum (XP) is a genodermatosis caused by abnormal DNA repair. XP complementation group C (XPC) is the most frequent type in Mediterranean countries. We describe a case with a novel mutation in the XPC gene. Case: A healthy Caucasian male patient was diagnosed with multiple primary melanomas. Digital follow-up and molecular studies were carried out. Results: During digital follow-up 8 more additional melanomas were diagnosed. Molecular studies did not identify mutations in CDKN2A, CDK4 or MITF genes. Two heterozygous mutations in the XPC gene were detected: c.2287delC (p.Leu763Cysfs*4) frameshift and c.2212A>G (p.Thr738Ala) missense mutations. Conclusion: The p.Thr738Ala missense mutation has not been previously described. Missense mutations in the XPC gene may allow partial functionality that could explain this unusual late onset XP. Atypical clinical presentation of XPC could be misdiagnosed when genetic aberrations allow partial DNA repair capacity.

Introduction: Non-invasive imaging techniques offer the possibility to optimize the first approach to melanoma. RCM has a promising role in predicting the main prognostic events in the dermoepidermal and papillary dermis.   Objectives: To identify pre-surgical criteria that can predict the main prognostic features of melanoma.   Methods: A retrospective cohort-study evaluated dermoscopic, confocal and histopathological characteristics of consecutively diagnosed sporadic melanomas. RCM-melanoma patterns classified into 1) dendritic-cell, 2) round-cell, 3) dermal nest and 4) combined type. Acral, facial and mucosal locations were excluded.   Results: 92 primary melanomas were included: 44 male and 48 female (mean age 60.4 years, SD 16.2) with a mean Breslow of 1.43mm (SD 1.6). The most frequent dermoscopic presentation was the multicomponent pattern, the predominant confocal pattern was dendritic-cell type (44.6%). The presence of pigmented network on dermoscopy was related to lower Breslow and mitotic rates (both p=0.002); in contrast to the presence of visible vessels, which was related to higher Breslow and mitotic indexes (both p=0.001). Confocal observation of dermal nests or atypical cells in the papillary dermis was related to a higher mitotic rate (p=0.006 and p=0.03, respectively). Similarly, diffuse inflammatory infiltrates visible in the superficial dermis was associated with higher Breslow (p=0.04) and mitotic index (p=0.04).   Conclusions: Dermoscopic and RCM in vivo findings on primary melanoma correlate with histopathologic Breslow index, mitotic rate and tumor infiltrating lymphocytes. The architecture and cytology of primary melanoma can be estimated by combining dermoscopy and RCM prior to excision.

Electrical impedance spectroscopy has clinical relevance in diagnosing malignancy in melanocytic lesions. Sixty-eight lesions with changes during digital follow-up of patients at very high risk of developing melanoma were prospectively included in this study from February to December 2016. Electrical impedance spectroscopy and reflectance confocal microscopy were performed to evaluate their performance in this subset of difficult lesions. Forty-six lesions were considered suspicious on reflectance confocal microscopy and were excised, 19 were diagnosed as melanoma. Fifteen melanomas were detected by electrical impedance spectroscopy, while 4 received a score lower than 4, which suggested no malignancy. The addition of reflectance confocal microscopy improves accuracy while maintaining the same sensitivity. In the case of electrical impedance spectroscopy scores <4, lesions exhibiting changes in follow-up may need short-term monitoring or excision if dermoscopy shows criteria for melanoma. Results of electrical impedance spectroscopy in this subset of very early lesions should be carefully considered due to the risk of false negatives.

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