keratosis follicularis spinulosa decalvans—X-linked

Home » Classic Medicine » Dermatology » keratosis follicularis spinulosa decalvans—X-linked
keratosis follicularis spinulosa decalvans—X-linked2016-12-03T06:35:54+00:00

keratosis follicularis spinulosa decalvans—X-linked

DERMATOLOGY, GENETICS

Definition A rare X-linked disorder (OMIM:308800) characterised by 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.

Molecular pathology Defects of MBTPS2, which encodes an intramembrane zinc metalloprotease that is essential for sterol control of transcription and ER stress response, cause keratosis follicularis spinulosa decalvans—X-linked.

Synonym Keratosis follicularis spinulosa decalvans cum ophiasi, KFSDX

Reference http://www.uniprot.org/uniprot/O43462

http://www.omim.org/entry/308800 

Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.