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GTR Home > Conditions/Phenotypes > Inflammatory poikiloderma with hair abnormalities and acral keratoses

Inflammatory poikiloderma with hair abnormalities and acral keratoses

Summary

Inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK) is characterized by mottled hyper- and hypopigmentation of the skin as well as sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses (Han et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C6orf93, IPHAK, dJ468K18.4, LTV1
    Summary: LTV1 ribosome biogenesis factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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