Literature DB >> 3721831

Ichthyosis accompanied by neurological symptoms with special reference to epilepsy.

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.

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Year:  1986        PMID: 3721831     DOI: 10.1007/bf02230886

Source DB:  PubMed          Journal:  Ital J Neurol Sci        ISSN: 0392-0461


  7 in total

1.  A unique case of trichorrhexis nodosa; bamboo hairs.

Authors:  E W NETHERTON
Journal:  AMA Arch Derm       Date:  1958-10

2.  Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study.

Authors:  T SJOGREN; T LARSSON
Journal:  Acta Psychiatr Neurol Scand Suppl       Date:  1957

3.  Congenital Absence of Hair and Mammary Glands with Atrophic Condition of the Skin and its Appendages, in a Boy whose Mother had been almost wholly Bald from Alopecia Areata from the age of Six.

Authors:  J Hutchinson
Journal:  Med Chir Trans       Date:  1886

4.  Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder.

Authors:  C H Tay
Journal:  Arch Dermatol       Date:  1971-07

5.  Ichthyosis and epilepsy: a peculiar form of Rud's syndrome.

Authors:  G C Guazzi; F Bravaccio; A Pascotto; S Carlomagno
Journal:  Acta Neurol (Napoli)       Date:  1978 May-Jun

6.  Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation.

Authors:  C Angelini; M Philippart; C Borrone; N Bresolin; M Cantini; S Lucke
Journal:  Ann Neurol       Date:  1980-01       Impact factor: 10.422

7.  The keratitis, ichthyosis, and deafness (KID) syndrome.

Authors:  B A Skinner; M C Greist; A L Norins
Journal:  Arch Dermatol       Date:  1981-05
  7 in total

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