CLINICAL SYMPTOMS AND DIAGNOSTICS OF A RARE DISEASE: FROM THE PRENATAL PERIOD TO EARLY CHILDHOOD. CLINICAL CASE OF PIGMENTAL DISORDER DISEASE

  • Rasa Kilimonienė Kauno Klinikos Department of Neonatology, Kaunas, Lithuania
  • Eglė Machtejevienė LSMU Faculty of Medicine Department of Obstetrics and Gynecology, Kaunas, Lithuania
  • Rasa Traberg LSMU Faculty of Medicine Department of Genetics and Molecular Medicine, Kauno Klinikos Department of Genetics and Molecular Medicine, Kaunas, Lithuania
  • Rūta Navardauskaitė LSMU Faculty of Medicine Department of Endocrinology, Kaunas, Lithuania
  • Vilma Ivanauskienė Kauno Klinikos Department of Neonatology, Kaunas, Lithuania
  • Rasa Tamelienė Kauno Klinikos Department of Neonatology, Kaunas, Lithuania
Keywords: incontinentia pigmenti, Bloch-Sulzberger syndrome, IKBKG gene

Abstract

Summary. Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is an X-linked dominant genodermatosis that is usually lethal in males before birth. IP is caused by loss-of-function mutations in the IKBKG/NEMO gene, a regulatory protein that activates genes involved in cell survival, inflammation, and immunity [1].

Published
2020-03-20
Section
Clinical case