keratosis follicularis spinulosa decalvans, X-linked

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keratosis follicularis spinulosa decalvans, X-linked

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
Caused by defects of MBTPS2, which encodes an intramembrane zinc metalloprotease that is essential for sterol control of transcription and ER stress response.
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