General description

Xeroderma pigmentosum (XP) is a rare genetic disorder caused by defects in the nucleotide excision repair pathway, leading to extreme sensitivity to ultraviolet radiation (UVR). This results in a high risk of early-onset skin cancers, eye abnormalities, and, in some cases, progressive neurodegeneration. XP is classified into eight complementation groups (XPA–XPG and XPV), each associated with specific genetic mutations.

Approximately half of XP patients exhibit photosensitivity, experiencing severe sunburn or blistering with minimal UVR exposure. Ocular complications include photokeratitis, conjunctival inflammation, and pterygium. The risk of developing squamous cell carcinoma on the cornea and eyelids is significantly higher than in the general population. Additionally, about one-fourth of patients suffer from neurodegenerative symptoms such as sensorineural hearing loss, cognitive decline, ataxia, and peripheral neuropathy, characterized by reduced nerve conduction velocities.

References

1. Leung, Alexander KC, et al. "Xeroderma pigmentosum: an updated review." Drugs in context 11 (2022).
2. Ueda, Takehiro, et al. "Neuroimaging features of xeroderma pigmentosum group A." Brain and Behavior 2.1 (2012): 1-5.