Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise.

ABSTRACT: Hereditary keratin disorders of the skin and its appendages comprise a large group of clinically heterogeneous disfiguring blistering and ichthyotic diseases, primarily characterized by the loss of tissue integrity, blistering and hyperkeratosis in severely affected tissues. Pathogenic mutations in keratins cause these afflictions. Typically, these mutations in concert with characteristic features have formed the basis for improved disease diagnosis, prognosis and most recently therapy development. Examples include epidermolysis bullosa simplex, keratinopathic ichthyosis, pachyonychia congenita and several other tissue-specific hereditary keratinopathies. Understanding the molecular and genetic events underlying skin dysfunction has initiated alternative treatment approaches that may provi

SUBMITTER: Chamcheu JC 

PROVIDER: S-EPMC3556927 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature