Incontinentia pigmenti diagnostic criteria update

摘要: In 1993 diagnostic criteria for incontinentia pigmenti (IP), a genodermatosis in which skin changes are usually combined with anomalies of other organs, were established. Approximately decade ago, IKBKG gene mutation was discovered as cause IP. This finding has not been included IP diagnosis so far. addition, literature data pointed out few clinical findings possible criteria. Literature facts concerning analyzed. Different organ anomalies, their frequency and severity, analyzed the context applicability Taking into account from literature, proposal updated presented. We propose major one stages lesions. As minor our we included: dental, ocular; central nervous system (CNS), hair, nail, palate, breast nipple anomalies; multiple male miscarriages, pathohistological findings. IP, presence typical existence family relatives diagnosed taken account.