Corneal Intraepithelial Dyskeratosis-Palmoplantar Hyperkeratosis-Laryngeal Dyskeratosis Syndrome

Watchlist

(log in to enable)

Retrieved

2021-01-23

Source

Orphanet

Trials

—

Genes

NLRP1

Drugs

Autologous cultured endothelial cells on a donor human corneal disk

Interested in hearing about new therapies?

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome is a rare, genetic, corneal dystrophy disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhintis, dyshidrosis and/or nail thickening.