| Literature DB >> 3721831 |
A Quattrini, A Ortenzi, R Silvestri, A Paggi, M Fronzoni, D P Pace, I D'Angelo, S Ardito, S Sgriccia.
Abstract
5 patients with ichthyosis had a neurological accompaniment: epilepsy in 4, congenital palpebral ptosis, facial pain and neurosis in 1. In one patient epilepsy was combined with multiple malformations (normal dwarfism, prematurely old face, skeletal abnormalities) and oligophrenia. There was considerable variability genetically: 2 sporadic cases, 1 with X-linked transmission, 1 with autosomal dominant and 1 with apparent autosomal recessive heredity. In one case the co-existence of glucose-6-phosphate dehydrogenase deficiency provided proof of X-linked transmission. Further study of larger case-series is needed for a better definition of the nosographic and genetic aspects of non blastomatous neuroectodermatoses in which ichthyosis figures.Entities:
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Year: 1986 PMID: 3721831 DOI: 10.1007/bf02230886
Source DB: PubMed Journal: Ital J Neurol Sci ISSN: 0392-0461