Keratosis Follicularis Spinulosa Decalvans, X-Linked

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OMIM 57 308800 MedGen 42 C3887525 C0343057 MeSH 44 D007642

SNOMED-CT via HPO 69 5888003 231796003 41446000 9826008 246622003 409668002 127559009 62909004 16386004 706885006 20255002 271811009 398909004 5587004 263934009 17790008 238629004 402341008 81845009 more UMLS 73 C3887525

OMIM : ⁵⁷ 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 : ⁷⁵ 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.