[Keratotic neurocutaneous syndromes].

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.

• Authors: J Tercedor, A García
• Journal: Revista de neurologia (Rev Neurol) Vol. 25 Suppl 3 Pg. S238-42 (Sep 1997) ISSN: 0210-0010 [Print] Spain
• Vernacular Title: Síndromes neurocutáneos queratósicos.
• PMID: 9273168 (Publication Type: English Abstract, Journal Article, Review)

Topics

• Adrenoleukodystrophy (diagnosis)
• Chondrodysplasia Punctata (diagnosis)
• Deafness (complications)
• Humans
• Ichthyosis (complications, diagnosis)
• Peroxisomal Disorders (diagnosis)
• Refsum Disease (diagnosis)
• Sjogren-Larsson Syndrome (diagnosis)
• Syndrome