Incontinentia pigmenti: report on data from 2000 to 2013

Orphanet J Rare Dis. 2014 Jun 24;9:93. doi: 10.1186/1750-1172-9-93.


We report here on the building-up of a database of information related to 386 cases of Incontinentia Pigmenti collected in a thirteen-year activity (2000-2013) at our centre of expertise. The database has been constructed on the basis of a continuous collection of patients (27.6/year), the majority diagnosed as sporadic cases (75.6%). This activity has generated a rich source of information for future research studies by integrating molecular/clinical data with scientific knowledge. We describe the content, architecture and future utility of this collection of data on IP to offer comprehensive anonymous information to the international scientific community.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cohort Studies
  • Female
  • Humans
  • Incontinentia Pigmenti / epidemiology*
  • Incontinentia Pigmenti / genetics
  • Incontinentia Pigmenti / physiopathology
  • Male