Revista de neurologia · 1997
[Keratotic neurocutaneous syndromes].
Аннотация на английскомСтатьяОбзорНазвание и аннотация: Перевод в очереди
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Tercedor J, García A
Аннотация
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.
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.