Incontinentia pigmenti diagnostic criteria update

Authors

  • S. Minić,

    Corresponding author
    1. School of Medicine, University of Belgrade and Clinics of Dermatovenerology, Clinical Center of Serbia
    • Corresponding author: Snežana Minić, Clinics of Dermatovenerology, Clinical Center of Serbia, School of Medicine, University of Belgrade, Deligradska 34, 11000 Belgrade, Serbia.

      Tel.: +381 64 199 88 67;

      fax: +381 11 361 25 67;

      e-mail: dtrpinac@eunet.rs

    Search for more papers by this author
  • D. Trpinac,

    1. Institute of Histology and Embryology, School of Medicine, University of Belgrade, Belgrade, Serbia
    Search for more papers by this author
  • M. Obradović

    1. Institute of Histology and Embryology, School of Medicine, University of Belgrade, Belgrade, Serbia
    Search for more papers by this author

  • None.

Abstract

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

Ancillary