Related Experiment Videos
[Keratotic neurocutaneous syndromes]
1Sección de Dermatología, Hospital Universitario Virgen de las Nieves, Granada, España.
Objective:
To review current knowledge of etiologic, clinic, diagnostic and therapeutic aspects of ichthyotic diseases with neurologic manifestations.
Development:
Classic keratotic neurocutaneous syndromes including Sjögren-Larsson syndrome, trichotyodystrophy, KID (keratitis, ichthyosis and deafness) syndrome and Rud syndrome, are reviewed. Furthermore, we pay attention to syndromes whose description and study are of current importance: cardiofaciocutaneous syndrome, neutral lipids storage disease with ichthyosis, multiple sulphatase deficiency disease and peroxisomal disorders.
Conclusions:
Keratotic neurocutaneous syndromes knowledge will help to improve its diagnosis and therapeutic approach.