Table 1.
Summary of patients with Xeroderma pigmentosa
| 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| general | Age of onset | 4 | 2 | 3 | 2 | 2 | 3 | 2 | 2 | 2 | 3 | 2 |
| Sex | M | M | M | F | F | M | F | M | F | M | F | |
| consanguinity | + | + | + | + | + | + | + | + | + | + | + | |
| Family history | no | no | no | no | no | no | no | no | no | no | no | |
| Stunted growth | − | − | − | − | − | − | − | − | − | − | − | |
| skin | Photosensitivity | + | + | + | + | + | + | + | + | + | + | + |
| Hyperpigmentation | + | + | + | + | + | + | + | + | + | + | + | |
| Scaling | + | − | − | + | + | + | − | + | + | − | + | |
| erythema | − | − | − | − | + | + | − | − | − | − | − | |
| Skin cancers | SCC | + | + | + | + | + | + | + | − | + | + | + |
| BCC | + | + | + | + | + | + | + | − | + | + | + | |
| Melanoma | + | − | − | − | − | + | − | − | − | − | − | |
| ocular | Photophobia | + | + | + | + | + | + | + | + | + | + | + |
| Excessive lacrimation | + | + | + | + | + | + | + | + | + | + | + | |
| Blurring of vision | − | − | + | + | − | − | + | + | − | − | + | |
| Corneal injection | − | − | + | − | − | − | − | + | − | − | − | |
| Corneal clouding | − | − | − | + | − | − | + | + | − | − | + | |
| Ocular cancers | Lid SCC | + | − | + | + | + | − | + | − | + | − | + |
| Lid BCC | + | + | + | + | − | + | − | + | + | + | ||
| Limbal SCC | − | − | + | − | − | − | − | + | − | − | − | |
| Conjunctrival SCC | − | − | − | − | − | − | − | + | − | − | − | |
| Oral | Fissuring of lips | + | − | − | − | − | − | + | − | − | − | − |
| Hyperpigmentation of lips | + | − | − | − | − | − | + | − | − | − | − | |
| Whitening of lips | − | − | − | + | − | − | − | − | − | − | + | |
| Neurological | Microcephaly | no | no | no | no | no | no | no | no | no | no | no |
| Intelligence | N | N | N | SN | N | N | N | SN | N | N | N | |
| Neurological defects | no | no | no | no | no | no | no | no | no | no | no |