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GTR Home > Conditions/Phenotypes > Ichthyosis hystrix of Curth-Macklin

Ichthyosis hystrix of Curth-Macklin

Synonyms
Ichthyosis histrix, curth-macklin type; Ichthyosis hystrix, Curth Macklin type
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

The Curth-Macklin type of ichthyosis hystrix (IHCM) is clinically characterized by severe fissuring and mutilating palmoplantar keratoderma. Affected individuals also exhibit extensive dark spiky or verrucous hyperkeratotic plaques over the large joints and trunk, which in some patients may cover almost the entire body. Structural and ultrastructural hallmarks include compact orthokeratotic hyperkeratosis, hypergranulosis with perinuclear edema, binucleated cells, and formation of perinuclear filamentous shells composed of feathery entangled keratin intermediate filaments (summary by Richardson et al., 2006 and Fonseca et al., 2013). The Lambert type of ichthyosis hystrix (IHL; 146600), in which palms and soles are spared, is caused by mutation in the KRT10 (148080) gene. [from OMIM]

Available tests

16 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AEI2, CK1, EHK, EHK1, EPPK, K1, KRT1A, NEPPK, KRT1
    Summary: keratin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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