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GTR Home > Conditions/Phenotypes > Erythrokeratodermia variabilis et progressiva 4

Summary

Erythrokeratodermia variabilis et progressiva-4 is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet (summary by Boyden et al., 2017). For a discussion of genetic heterogeneity of EKVP, see EKVP1 (133200). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DHSR, EKVP4, FVT1, SDR35C1, KDSR
    Summary: 3-ketodihydrosphingosine reductase

Clinical features

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