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GTR Home > Conditions/Phenotypes > Keratosis follicularis spinulosa decalvans, X-linked

Keratosis follicularis spinulosa decalvans, X-linked

Summary

Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis pilaris, progressive cicatricial alopecia of the scalp, eyebrows, and eyelashes, and an excess of affected males. Photophobia, blepharitis/conjunctivitis, and corneal dystrophy are characteristic ancillary findings. It is most often inherited as an X-linked trait (summary by Castori et al., 2009). Autosomal dominant inheritance has also been reported (KFSD; 612843). The term 'cum ophiasi' means 'with ophiasis,' i.e., baldness in 1 or more winding streaks about the head, which comes from the Greek for snake. Decalvans refers to the loss of hair. [from OMIM]

Available tests

23 tests are in the database for this condition.

Clinical tests (23 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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