Incontinentia pigmenti

A. Yasmine Kirkorian, Bernard Cohen

Research output: Chapter in Book/Report/Conference proceedingChapter


Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome) is an X-linked dominantly inherited genodermatosis that affects the skin in combination with anomalies of other organs, including the central nervous system. IP results from mutations in the inhibitor of kappa beta kinase gamma (IKBKG), formerly known as NEMO, located on locus Xq28. Absence of IKBKG results in complete inhibition of nuclear factor kappa beta signaling leading to the varied manifestations seen in IP. The wide spectrum of clinical manifestations in IP results from lyonization of the X chromosome with skewed X inactivation. Therefore IP, although rare, may serve as a prototypical example of the clinical presentation of X-linked dominant disorders.

Original languageEnglish (US)
Title of host publicationRosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publicationVolume 2
Number of pages7
ISBN (Electronic)9780128138663
StatePublished - Jan 1 2020


  • Genodermatosis
  • Incontinentia pigmenti
  • Neonatal seizures
  • Nuclear factor kappa beta
  • Skin lesions
  • X-linked dominant

ASJC Scopus subject areas

  • General Medicine


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