A Rare Case of Xeroderma Pigmentosum: Nivolumab Treatment for Three Cutaneous Malignancies with Clinical and Metabolic Imaging Correlation
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 melan...
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2025-04-01
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| author | Ilaria Proietti Riccardo Pirisino Giulia Azzella Vincenzo Coppolelli Maria Elisabetta Greco Emanuele Casciani Concetta Potenza Luca Filippi |
| author_facet | Ilaria Proietti Riccardo Pirisino Giulia Azzella Vincenzo Coppolelli Maria Elisabetta Greco Emanuele Casciani Concetta Potenza Luca Filippi |
| author_sort | Ilaria Proietti |
| collection | DOAJ |
| description | 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 <sup>18</sup>F-fluorodeoxyglucose ([<sup>18</sup>F]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 [<sup>18</sup>F]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’s 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. |
| format | Article |
| id | doaj-art-15682fc7ecfd49fca40e023325b23554 |
| institution | DOAJ |
| issn | 2075-4418 |
| language | English |
| publishDate | 2025-04-01 |
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| series | Diagnostics |
| spelling | doaj-art-15682fc7ecfd49fca40e023325b235542025-08-20T03:13:30ZengMDPI AGDiagnostics2075-44182025-04-0115897910.3390/diagnostics15080979A Rare Case of Xeroderma Pigmentosum: Nivolumab Treatment for Three Cutaneous Malignancies with Clinical and Metabolic Imaging CorrelationIlaria Proietti0Riccardo Pirisino1Giulia Azzella2Vincenzo Coppolelli3Maria Elisabetta Greco4Emanuele Casciani5Concetta Potenza6Luca Filippi7Dermatology Unit “Daniele Innocenzi”, “A. Fiorini” Hospital, Via Firenze, 1, 04019 Terracina, ItalyDepartment of Nuclear Medicine, Santa Maria Goretti Hospital, AUSL Latina, 04100 Latina, ItalyDermatology Unit “Daniele Innocenzi”, “A. Fiorini” Hospital, Via Firenze, 1, 04019 Terracina, ItalyDermatology Unit “Daniele Innocenzi”, “A. Fiorini” Hospital, Via Firenze, 1, 04019 Terracina, ItalyDermatology Unit “Daniele Innocenzi”, “A. Fiorini” Hospital, Via Firenze, 1, 04019 Terracina, ItalyDepartment of Biomedicine and Prevention, University of Rome “Tor Vergata”, Via Montpellier 1, 00133 Rome, ItalyDermatology Unit “Daniele Innocenzi”, “A. Fiorini” Hospital, Via Firenze, 1, 04019 Terracina, ItalyDepartment of Biomedicine and Prevention, University of Rome “Tor Vergata”, Via Montpellier 1, 00133 Rome, ItalyXeroderma 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 <sup>18</sup>F-fluorodeoxyglucose ([<sup>18</sup>F]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 [<sup>18</sup>F]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’s 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.https://www.mdpi.com/2075-4418/15/8/979metabolic imagingPET/CTmetastatic melanomaimmunotherapyprecision medicine |
| spellingShingle | Ilaria Proietti Riccardo Pirisino Giulia Azzella Vincenzo Coppolelli Maria Elisabetta Greco Emanuele Casciani Concetta Potenza Luca Filippi A Rare Case of Xeroderma Pigmentosum: Nivolumab Treatment for Three Cutaneous Malignancies with Clinical and Metabolic Imaging Correlation Diagnostics metabolic imaging PET/CT metastatic melanoma immunotherapy precision medicine |
| title | A Rare Case of Xeroderma Pigmentosum: Nivolumab Treatment for Three Cutaneous Malignancies with Clinical and Metabolic Imaging Correlation |
| title_full | A Rare Case of Xeroderma Pigmentosum: Nivolumab Treatment for Three Cutaneous Malignancies with Clinical and Metabolic Imaging Correlation |
| title_fullStr | A Rare Case of Xeroderma Pigmentosum: Nivolumab Treatment for Three Cutaneous Malignancies with Clinical and Metabolic Imaging Correlation |
| title_full_unstemmed | A Rare Case of Xeroderma Pigmentosum: Nivolumab Treatment for Three Cutaneous Malignancies with Clinical and Metabolic Imaging Correlation |
| title_short | A Rare Case of Xeroderma Pigmentosum: Nivolumab Treatment for Three Cutaneous Malignancies with Clinical and Metabolic Imaging Correlation |
| title_sort | rare case of xeroderma pigmentosum nivolumab treatment for three cutaneous malignancies with clinical and metabolic imaging correlation |
| topic | metabolic imaging PET/CT metastatic melanoma immunotherapy precision medicine |
| url | https://www.mdpi.com/2075-4418/15/8/979 |
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