Ichthyosis accompanied by neurological symptoms with special reference to epilepsy.
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.
D000293:Adolescent; D000328:Adult; D001763:Blepharoptosis / Q000151:congenital; D002648:Child; D004827:Epilepsy / Q000150:complications*; D005157:Facial Pain / Q000150:complications; D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications; D006801:Humans; D007057:Ichthyosis / Q000150:complications* / Q000235:genetics; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D009422:Nervous System Diseases / Q000150:complications*; D009497:Neurotic Disorders / Q000150:complications; D013789:Thalassemia / Q000150:complications