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GTR Home > Conditions/Phenotypes > Olmsted syndrome, X-linked

Olmsted syndrome, X-linked

Synonyms
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked

Summary

X-linked Olmsted syndrome (OLMSX) is a rare keratinization disorder characterized by the combination of periorificial keratotic plaques and bilateral palmoplantar transgredient keratoderma. Other clinical manifestations include diffuse alopecia, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular keratosis, and constriction of the digits (summary by Yaghoobi et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of Olmsted disease, see OLMS1 (614594). [from OMIM]

Available tests

24 tests are in the database for this condition.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BRESEK, IFAP, KFSD, KFSDX, OI19, OLMSX, S2P, MBTPS2
    Summary: membrane bound transcription factor peptidase, site 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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