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Article

Cutaneous mosaicism, in KRT1 pI479T patient, caused by the somatic loss of the wild-type allele, leads to the increase in local severity of the disease.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 May 2016

Palombo R, Giannella E, Didona B, Annicchiarico-Petruzzelli M, Melino G, Terrinoni A

Abstract excerpt

BACKGROUND: Epidermolytic ichthyosis (BCIE, OMIM 113800), is an autosomal dominant disorder of the skin caused by mutations in keratin genes KRT1 and KRT10. We present two sporadic patients showing a mild diffuse ichthyosis with palmoplantar keratoderma. Interestingly, one of them shows a signifi...

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Source

Identifiers

PMID: 25904304
DOI: 10.1111/jdv.13153

Genes

KRT1
KRT10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25904304-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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