Incontinentia Pigmenti

A. Yasmine Kirkorian, Bernard A Cohen

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

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: Fifth Edition
PublisherElsevier Inc.
Pages963-969
Number of pages7
ISBN (Print)9780124105294, 9780124105492
DOIs
Publication statusPublished - Nov 13 2014

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Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Kirkorian, A. Y., & Cohen, B. A. (2014). Incontinentia Pigmenti. In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition (pp. 963-969). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-410529-4.00083-8