Table 1.
Overview of most abundant XP features and their average age of onset or frequency. Adapted from [5]
Feature | % / age | Feature | % / age |
---|---|---|---|
Cutaneous abnormalities | Neurological abnormalities | ||
Median age of onset of symptoms | 1.5 yr | Median age of onset | 6 mo |
Median age of onset of freckling | 1.5 yr | Association with skin problems | 33% |
Photosensitivity | 19% | Association with ocular abnormalities | 36% |
Cutaneous atrophy | 23% | Low intelligence | 80% |
Cutaneous telangiectasia | 17% | Abnormal motor activity | 30% |
Actinic keratoses | 19% | Areflexia | 20% |
Malignant skin neoplasms | 45% | Impaired hearing | 18% |
Median age of first cutaneous neoplasm | 8 yr | Abnormal speech | 13% |
Ocular abnormalities | Abnormal EEG | 11% | |
Frequency | 40% | Microcephaly | 24% |
Median age of onset | 4 yr | Abnormalities associated with neurological defects | |
Conjunctival injection | 18% | Slow growth | 23% |
Corneal abnormalities | 17% | Delayed secondary sexual development | 12% |
Impaired vision | 12% | ||
Photophobia | 2% | ||
Ocular neoplasms | 11% | ||
Median age of first ocular neoplasm | 11 yr |