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Related Concept Videos

Disorders of Leukocytes01:27

Disorders of Leukocytes

Leukocyte disorders can lead to either leukopenia, characterized by an abnormally low leukocyte count, or leukocytosis, marked by a very high leukocyte number.
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Related Experiment Video

Updated: Jun 11, 2026

An Intravital Microscopy-Based Approach to Assess Intestinal Permeability and Epithelial Cell Shedding Performance
07:32

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Published on: December 3, 2020

Incontinentia pigmenti with ultrastructurally disordered leucocytes.

S Minić1, D Trpinac, M Obradović

  • 1Institute of Dermatology, Clinical Center of Serbia, Belgrade, Serbia. dtrpinac@eunet.rs

Journal of Clinical Pathology
|July 2, 2010
PubMed
Summary

Incontinentia pigmenti (IP), a rare genetic skin disorder, can also cause unusual blood cell abnormalities. Researchers found these hematological findings in IP patients may link to leukemia pathways.

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Last Updated: Jun 11, 2026

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Area of Science:

  • Genetics
  • Hematology
  • Dermatology

Background:

  • Incontinentia pigmenti (IP) is a rare X-linked genodermatosis characterized by skin manifestations and anomalies in ectodermal tissues.
  • Mutations in the IKBKG gene are identified as the cause of IP.
  • Hematological disorders are infrequently observed in patients with IP.

Observation:

  • This study reports on four female patients from a single family with typical IP clinical features.
  • All affected family members exhibited a distinct hematological phenotype, including hypogranular granulocytes, leukocytes with pseudoplatelets, and nuclear anomalies.
  • Pseudoplatelets are a characteristic finding in patients diagnosed with leukemia.

Findings:

  • The study identified a novel association between Incontinentia Pigmenti and specific hematological abnormalities.
  • The presence of pseudoplatelets in IP patients suggests a potential link to the IKBKG gene's role in regulating the NEMO pathway.
  • This pathway is also implicated in the development of acute leukemias.

Implications:

  • The findings suggest that Incontinentia Pigmenti may involve more than just ectodermal tissues, extending to hematological implications.
  • Dysregulation of the NEMO pathway could be a common mechanism underlying pseudoplatelet formation in both IP and acute leukemias.
  • This research opens new avenues for understanding the systemic effects of IP and potential therapeutic targets.