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Incontinentia pigmenti with ultrastructurally disordered leucocytes
  1. S Minić1,
  2. D Trpinac2,
  3. M Obradović2,
  4. G E K Novotny3,
  5. H D Gabriel4,
  6. M Kuhn4
  1. 1Institute of Dermatology, Clinical Center of Serbia, Belgrade, Serbia
  2. 2Institute of Histology and Embryology, School of Medicine, University of Belgrade, Belgrade, Serbia
  3. 3Medizinische Einrichtungen, University of Düsseldorf, Institute of Anatomy I, Düsseldorf, Germany
  4. 4Zentrum für Medizinische Genetik, Osnabrueck, Germany
  1. Correspondence to S Minić, Institute of Dermatology, Clinical Center of Serbia, Deligradska 34, 11000 Belgrade, Serbia; dtrpinac{at}eunet.rs

Abstract

Incontinentia pigmenti (IP) is a rare X-linked genodermatosis in which skin changes are combined with anomalies of other tissues, mainly of ectodermal origin. Mutations of the IKBKG gene are responsible for IP. Haematological disorders among IP patients are rare. Four female patients from a single family, with typical clinical characteristics of IP, are reported. In addition, all affected family members show a distinct haematological phenotype: hypogranular granulocytes, leucocytes with pseudoplatelets, and different anomalies of nuclei. Pseudoplatelets are a typical finding in patients with leukaemia. As there is dysfunction of the IKBKG gene in leukaemia, it is hypothesised that mis-regulation of the NEMO pathway may cause the appearance of pseudoplatelets in acute leukaemias as well as in IP. These observations suggest that IP may not be only linked to skin and organs of the ectodermal origin.

  • Electron microscopy
  • hematopathology
  • leucocytes
  • lymphocytes
  • neutrophils

https://doi.org/10.1136/jcp.2009.074203

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    Footnotes

    • Funding Ministry of Science and Ecology of Republic, Serbia, grant 145070B.

    • Competing interests None.

    • Patient consent Obtained.

    • Ethics approval This study was conducted with the approval of the Clinical Center of Serbia (Belgrade) Ethics Committee.

    • Provenance and peer review Not commissioned; externally peer reviewed.