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Article

Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy.

American journal of medical genetics. Part A - 1 Nov 2017

Kalinska-Bienias Agnieszka, Pollak Agnieszka, Kowalewski Cezary, Lechowicz Urszula, Stawinski Piotr, Gergont Aleksandra, Kosinska Joanna, Pronicka Ewa, Kowalski Pawel, Wozniak Katarzyna, Ploski Rafal

Abstract excerpt

Ichthyosis with confetti (IWC) is a severe congenital genodermatosis characterized by ichthyosiform erythroderma since birth and confetti-like spots of normal skin appearing in childhood as a results of revertant mosaicism. This disorder is caused by mutations in KRT10 or KRT1 genes. We report a 16-year-old boy who presented ichthyosiform erythroderma with severe desquamation since birth and gradually worsening...

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Share to Optic Atrophy, Hereditary, Leber

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Source

Identifiers

PMID: 28944608
DOI: 10.1002/ajmg.a.38403

Genes

KRT10
KRT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy.PMID 28944608Read ↗

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