Table 1 IP data registry
From: Incontinentia pigmenti: report on data from 2000 to 2013
Number of cases | Percentage of cases | |
|---|---|---|
Database information | 386 records | |
IP female samples | 349 | 90.4 |
IP male samples | 37 | 9.6 |
Pedigree domain | 308 available | |
Sporadic cases | 233 | 75.6 |
Familial cases | 72 | 23.4 |
Clinical domain* | 308 available | |
Skin defects | 308 | 100 |
CNS defects | 97 | 31.5 |
Ophthalmologic defects | 94 | 30.5 |
Teeth defects | 134 | 43.5 |
Hair defects | 82 | 26.6 |
Fingernail defects | 45 | 14.6 |
Developmental evolution | 30 | 9.7 |
Genetic domain | 193 available | |
NEMOdel4-10 | 145 | 75.1 |
IKBKG/NEMO point mutation | 32 | 22.1 |
IP locus rearrangement | 7 | 3.6 |
No known alteration found | 9 | 4.7 |