Синдром интраэпителиального дискератоза роговицы-ладонно-подошвенного гиперкератоза-дискератоза гортани

Определение

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.