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This case report details a young adult man in his early 20s diagnosed with XP type C, characterised by severe dermatological manifestations, such as pronounced freckle-like pigmentation and photosensitivity, but notably devoid of neurological symptoms, despite MRI findings of white matter lesions. Molecular genetic analysis confirmed a homozygous c.780-2AC mutation in the XPC gene. Clinical management emphasised stringent photoprotection, continuous thyroid hormone replacement following a prior thyroidectomy and interdisciplinary surveillance to address dermatological and potential neurological sequelae. The findings of this case underscore the critical role of early molecular diagnosis, targeted preventative care, and the necessity of a multidisciplinary approach to optimise patient outcomes and mitigate disease progression.<\/jats:p>","DOI":"10.1136\/bcr-2025-265015","type":"journal-article","created":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T15:20:25Z","timestamp":1745335225000},"page":"e265015","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Xeroderma pigmentosum type C with prominent cutaneous manifestations and subclinical neuroimaging abnormalities"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-5366-0225","authenticated-orcid":false,"given":"Mohammed Mamdoh","family":"Alhamood","sequence":"first","affiliation":[{"name":"Neurology, Tishreen Military Hospital, Damascus, Damascus, Syrian Arab Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imad","family":"Saadeh","sequence":"additional","affiliation":[{"name":"Neurology, Tishreen Military Hospital, Damascus, Damascus, Syrian Arab Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nassar","family":"Nassar","sequence":"additional","affiliation":[{"name":"Magnetic Resonance Imaging (MRI), Tishreen Military Hospital, Damascus, Damascus Governorate, Syrian Arab Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yassin","family":"Alsuleiman","sequence":"additional","affiliation":[{"name":"Magnetic Resonance Imaging (MRI), Tishreen Military Hospital, Damascus, Damascus Governorate, Syrian Arab Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,4,22]]},"reference":[{"key":"2025082723564096000_18.4.e265015.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2006.12.020"},{"key":"2025082723564096000_18.4.e265015.2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2663"},{"key":"2025082723564096000_18.4.e265015.3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.083022"},{"key":"2025082723564096000_18.4.e265015.4","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0616-2"},{"key":"2025082723564096000_18.4.e265015.5","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.426"},{"key":"2025082723564096000_18.4.e265015.6","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1034\/j.1600-0781.2001.017002047.x","article-title":"Xeroderma pigmentosum \u2013 bridging a gap between clinic and laboratory","volume":"17","author":"Moriwaki","year":"2001","journal-title":"Photoderm Photoimm Photomed"},{"key":"2025082723564096000_18.4.e265015.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2012.12.044"},{"key":"2025082723564096000_18.4.e265015.8","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-13"},{"key":"2025082723564096000_18.4.e265015.9","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-21"},{"key":"2025082723564096000_18.4.e265015.10","doi-asserted-by":"publisher","DOI":"10.1111\/j.1572-0241.2000.01831.x"},{"key":"2025082723564096000_18.4.e265015.11","first-page":"196","article-title":"Bloom\u2019s syndrome. 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