[Keratotic neurocutaneous syndromes]. / Síndromes neurocutáneos queratósicos.

ABSTRACT

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.