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Article

Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report.

BMC pediatrics - 29 Jun 2022

Kawai Miki, Sugimoto Atsuya, Ishihara Yasunori, Kato Takema, Kurahashi Hiroki

Abstract excerpt

BACKGROUND: Incontinentia pigmenti (IP) is an X-liked dominant genodermatosis caused by mutations of the IKBKG/NEMO gene. IP is mostly lethal in males in utero, and only very rare male cases with a somatic mosaic mutation or a 47,XXY karyotype have been reported. CASE PRESENTATION: We here report a case of an IKBKG gene deletion in a female infant presenting with a few blisters and erythema in her upper arms at...

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Identifiers

PMID: 35768795
DOI: 10.1186/s12887-022-03444-6
PMCID: PMC9241235

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report.PMID 35768795Read ↗

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