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Article

Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature

1 Apr 1999

Abstract excerpt

We report a large family with ichthyosis bullosa of Siemens (IBS) including eight affected members spanning three generations. The classical features of the disease were consistently observed with blistering, superficial peeling of the skin, and localized lichenified hyperkeratosis mainly confined to the limbs. Phenotypic variation, however, was also observed with some individuals exhibiting unusual clinical...

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Identifiers

PMID: 10233323
DOI: 10.1046/j.1365-2133.1999.02772.x

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Research trail→

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Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literaturePMID 10233323Read ↗

A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens.Semantic proximity Read ↗

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Ichthyosis bullosa of Siemens: further delineation of the phenotype.Semantic proximity Read ↗

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The keratins and their disorders.Semantic proximity Read ↗

A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens.Semantic proximity Read ↗

Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens.Semantic proximity Read ↗

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