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Ichthyosis accompanied by neurological symptoms with special reference to epilepsy

  • Quattrini A. 
  • Ortenzi A. 
  • Silvestri R. 
  • Paggi A. 
  • Fronzoni M. 
  • Pace D. P. 
  • D'Angelo I. 
  • Ardito S. 
  • Sgriccia S. 
Original Articles
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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 coexistence 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.

Key-Words

Ichthyosis neurological symptoms epilepsy 

Sommario

Vengono presentati 5 casi di ittiosi con associata patologia neurologica, rappresentata in 4 casi da epilessia mentre in 1 sono presenti ptosi palpebrale congenita, algie facciali e nevrosi. In un caso all'epilessia si associano anche malformazioni multiple (nanismo armonico, facies vecchieggiante, anomalie scheletriche) ed oligofrenia. È stata riscontrata una notevole variabilità per quanto riguada l'aspetto genetico: due casi sporadici, un caso con modalità di trasmissione tipo X-linked, un caso con ereditarietà autosomica dominante e un caso di apparente trasmissione autosomica recessiva. In un caso la coesistenza di deficit di G6PD con ittiosi ha consentito di individuare con certezza la trasmissione X-linked. Riteniamo necessario lo studio di casistiche più ampie per una migliore definizione degli aspetti nosografici e genetici della patologia neuroectodermica non blastomatosa in cui compare ittiosi.

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Copyright information

© Masson Italia Periodici S.r.l. 1986

Authors and Affiliations

  • Quattrini A. 
    • 1
  • Ortenzi A. 
    • 1
  • Silvestri R. 
    • 1
  • Paggi A. 
    • 1
  • Fronzoni M. 
    • 1
  • Pace D. P. 
    • 2
  • D'Angelo I. 
    • 3
  • Ardito S. 
    • 1
  • Sgriccia S. 
    • 1
  1. 1.Centro EpilessiaOspedale Regionale TorretteAncona
  2. 2.Istituto di Genetica MedicaUniversità degli Studi di AnconaAncona
  3. 3.Divisione di DermatologiaOspedale Regionale Umberto IAncona

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