{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:07:54Z","timestamp":1760058474853,"version":"build-2065373602"},"reference-count":21,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2025,4,12]],"date-time":"2025-04-12T00:00:00Z","timestamp":1744416000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by extreme ultraviolet (UV) sensitivity, predisposing patients to multiple cutaneous malignancies. We present the case of a 26-year-old male with XP diagnosed with three distinct skin cancers: superficial spreading melanoma (SSM), basal cell carcinoma (BCC), and squamous cell carcinoma (SCC). Among these, the melanoma had metastasized. A computed tomography (CT) scan revealed a suspicious pulmonary nodule, prompting further metabolic characterization via positron emission tomography\/computed tomography (PET\/CT) with 18F-fluorodeoxyglucose ([18F]FDG). The scan detected significant hypermetabolism not only in the lung lesion but also in an unsuspected right parotid gland lesion, refining disease staging and guiding treatment decisions. The patient underwent immunotherapy with nivolumab, achieving a complete metabolic response in both metastatic lesions, as confirmed by follow-up PET\/CT. This case underscores the critical role of [18F]FDG PET\/CT in staging and treatment monitoring for selected patients with XP, a population in which advanced imaging is rarely employed. Moreover, the patient\u2019s remarkable response to immunotherapy suggests a potential link between XP-related DNA repair defects and increased sensitivity to PD-1 blockade. These findings highlight the importance of integrating metabolic imaging into XP management and warrant further investigation into the immunogenicity of XP-associated malignancies.<\/jats:p>","DOI":"10.3390\/diagnostics15080979","type":"journal-article","created":{"date-parts":[[2025,4,15]],"date-time":"2025-04-15T08:11:39Z","timestamp":1744704699000},"page":"979","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Rare Case of Xeroderma Pigmentosum: Nivolumab Treatment for Three Cutaneous Malignancies with Clinical and Metabolic Imaging Correlation"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3795-3190","authenticated-orcid":false,"given":"Ilaria","family":"Proietti","sequence":"first","affiliation":[{"name":"Dermatology Unit \u201cDaniele Innocenzi\u201d, \u201cA. Fiorini\u201d Hospital, Via Firenze, 1, 04019 Terracina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9602-8881","authenticated-orcid":false,"given":"Riccardo","family":"Pirisino","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine, Santa Maria Goretti Hospital, AUSL Latina, 04100 Latina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Azzella","sequence":"additional","affiliation":[{"name":"Dermatology Unit \u201cDaniele Innocenzi\u201d, \u201cA. Fiorini\u201d Hospital, Via Firenze, 1, 04019 Terracina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Coppolelli","sequence":"additional","affiliation":[{"name":"Dermatology Unit \u201cDaniele Innocenzi\u201d, \u201cA. Fiorini\u201d Hospital, Via Firenze, 1, 04019 Terracina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-5067-8190","authenticated-orcid":false,"given":"Maria Elisabetta","family":"Greco","sequence":"additional","affiliation":[{"name":"Dermatology Unit \u201cDaniele Innocenzi\u201d, \u201cA. Fiorini\u201d Hospital, Via Firenze, 1, 04019 Terracina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6216-8923","authenticated-orcid":false,"given":"Emanuele","family":"Casciani","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, University of Rome \u201cTor Vergata\u201d, Via Montpellier 1, 00133 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Concetta","family":"Potenza","sequence":"additional","affiliation":[{"name":"Dermatology Unit \u201cDaniele Innocenzi\u201d, \u201cA. Fiorini\u201d Hospital, Via Firenze, 1, 04019 Terracina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4423-5496","authenticated-orcid":false,"given":"Luca","family":"Filippi","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, University of Rome \u201cTor Vergata\u201d, Via Montpellier 1, 00133 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.ejca.2020.01.007","article-title":"European Interdisciplinary Guideline on Invasive Squamous Cell Carcinoma of the Skin: Part 1. Epidemiology, Diagnostics and Prevention","volume":"128","author":"Stratigos","year":"2020","journal-title":"Eur. J. 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