Incontinentia pigmenti

A. Yasmine Kirkorian; Bernard Cohen

doi:10.1016/B978-0-12-813866-3.00016-3

Incontinentia pigmenti

A. Yasmine Kirkorian, Bernard Cohen

School of Medicine

Research output: Chapter in Book/Report/Conference proceeding › Chapter

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 language	English (US)
Title of host publication	Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publication	Volume 2
Publisher	Elsevier
Pages	233-239
Number of pages	7
ISBN (Electronic)	9780128138663
DOIs	https://doi.org/10.1016/B978-0-12-813866-3.00016-3
State	Published - Jan 1 2020

Keywords

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

ASJC Scopus subject areas

Medicine(all)

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10.1016/B978-0-12-813866-3.00016-3

Cite this

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title = "Incontinentia pigmenti",

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.",

keywords = "Genodermatosis, Incontinentia pigmenti, Neonatal seizures, Nuclear factor kappa beta, Skin lesions, X-linked dominant",

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AU - Kirkorian, A. Yasmine

AU - Cohen, Bernard

PY - 2020/1/1

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N2 - 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.

AB - 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.

KW - Genodermatosis

KW - Incontinentia pigmenti

KW - Neonatal seizures

KW - Nuclear factor kappa beta

KW - Skin lesions

KW - X-linked dominant

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DO - 10.1016/B978-0-12-813866-3.00016-3

M3 - Chapter

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BT - Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease

PB - Elsevier

ER -

Incontinentia pigmenti

Abstract

Keywords

ASJC Scopus subject areas

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