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GTR Home > Conditions/Phenotypes > Loricrin keratoderma

Loricrin keratoderma

Synonyms
VOHWINKEL SYNDROME WITH ICHTHYOSIS; Vohwinkel syndrome, variant form
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Variant Vohwinkel syndrome is a rare genodermatosis characterized by hyperkeratosis of the palms and soles, with a honeycomb appearance; constricting bands encircling the digits of the hands and feet, which frequently lead to autoamputation of the fifth digits; starfish-shaped, salmon-colored hyperkeratotic lesions, or knuckle pads, on the dorsal surface of the hands; and ichthyosiform dermatosis. The pathognomonic histologic finding is markedly thickened stratum corneum, hypergranulosis, and particularly, hyperkeratosis with round nuclei retained in the stratum corneum. Unlike classic Vohwinkel syndrome, hearing loss is not a feature (summary by Maestrini et al., 1996). [from OMIM]

Available tests

22 tests are in the database for this condition.

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Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LOR, LORICRIN
    Summary: loricrin cornified envelope precursor protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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