Xeroderma pigmentosum type C with prominent cutaneous manifestations and subclinical neuroimaging abnormalities

Xeroderma pigmentosum (XP) is an autosomal recessive condition resulting from defects in the nucleotide excision repair pathway, causing heightened ultraviolet radiation sensitivity and significantly elevated risks of dermatological malignancies. 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.