Table S1.
Clinical features | Total | Mild XP-A* | % | XP-A | % | XP-B | % | XP-C | % | XP-D | % | XP-E | % | XP-F | % | XP-G | % | XP-V | % |
Total cases reported | 89 | 10 | 11 | 8 | 9 | 2 | 2 | 28 | 31 | 14 | 16 | 4 | 4 | 3 | 3 | 8 | 9 | 12 | 13 |
Men | 38 | 6 | 60 | 4 | 50 | 0 | 14 | 50 | 7 | 50 | 0 | 2 | 67 | 4 | 50 | 7 | 58 | ||
Women | 41 | 4 | 40 | 4 | 50 | 2 | 100 | 14 | 50 | 7 | 50 | 4 | 100 | 1 | 33 | 4 | 50 | 5 | 42 |
Median age as of December 2014 (y) | 35 | 17 | 45 | 14 | 24 | 56 | 23 | 19 | 55 | ||||||||||
Median age at diagnosis (y) | 32 | 8 | 36 | 5 | 4 | 47 | 9 | 8 | 44 | ||||||||||
Age at onset of cutaneous symptoms (y) (average) | 4 | 0.4 | 1 | 3 | 0.6 | 17 | 1 | 0.6 | 27 | ||||||||||
Sunburn severity score (median) | 1 | 3 | 3 | 0 | 3 | 1 | 3 | 3 | 0 | ||||||||||
Mean age at onset of lentigines stated (y) | 3 | 7 | 3 | 3 | 8 | 15 | 15 | 6 | 15 | ||||||||||
Age photoprotection started (y) (average) | 24 | 3 | 2 | 10 | 10 | 17 | 15 | 10 | 39 | ||||||||||
Presence of lentigines at exposed sites | 10 | 100 | 7 | 88 | 2 | 100 | 28 | 100 | 10 | 7 | 4 | 100 | 1 | 33 | 6 | 75 | 12 | 100 | |
Hypopigmented macules | 7 | 70 | 3 | 38 | 2 | 100 | 24 | 86 | 10 | 71 | 4 | 100 | 0 | 5 | 63 | 7 | 58 | ||
Cutaneous atrophy/actinic damage present | 1 | 10 | 0 | 0 | 2 | 100 | 7 | 25 | 9 | 64 | 3 | 75 | 0 | 0 | 11 | 92 | |||
Malignant skin neoplasms | |||||||||||||||||||
Present | 2 | 20 | 1 | 0 | 1 | 50 | 15 | 54 | 9 | 64 | 3 | 75 | 0 | 0 | 10 | 83 | |||
Absent | |||||||||||||||||||
Age first skin cancer (y) (median) | 38 | 8 | 22 | 11 | 14 | 15 | NA | NA | 36 | ||||||||||
Type of first cutaneous neoplasm | |||||||||||||||||||
BCC | 1 | 11 | 8 | 2 | NA | NA | 3 | ||||||||||||
SCC | 1 | 2 | 1 | NA | NA | 2 | |||||||||||||
Melanoma/MIS | 1 | 1 | 2 | 1 | NA | NA | 5 |
This is the group of XP-A with the c.555+8A > G mutation. NA, Not applicable.