Keratosis Follicularis Spinulosa Decalvans, X-Linked (KFSDX)

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OMIM 58 308800 MeSH 45 D007642 MedGen 43 C0343057 C3887525

SNOMED-CT via HPO 70 127559009 16386004 17790008 20255002 231796003 238629004 246622003 263934009 271811009 398909004 402341008 409668002 41446000 5587004 5888003 62909004 706885006 81845009 9826008 more UMLS 74 C3887525

OMIM : ⁵⁸ 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. (308800)

MalaCards based summary : Keratosis Follicularis Spinulosa Decalvans, X-Linked, also known as keratosis follicularis spinulosa decalvans cum ophiasi, is related to keratosis follicularis spinulosa decalvans and keratosis follicularis spinulosa decalvans, autosomal dominant, and has symptoms including photophobia An important gene associated with Keratosis Follicularis Spinulosa Decalvans, X-Linked is MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2). Affiliated tissues include skin and eye, and related phenotypes are photophobia and abnormality of the nail

UniProtKB/Swiss-Prot : ⁷⁶ Keratosis follicularis spinulosa decalvans X-linked: A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration.

Clinical features from OMIM:

308800

Search Clinical Trials , NIH Clinical Center for Keratosis Follicularis Spinulosa Decalvans, X-Linked

Search GEO for disease gene expression data for Keratosis Follicularis Spinulosa Decalvans, X-Linked.