A Case of Ichthyosis Vulgalis Associated with Schizophrenia-Like Psychosis and Spike-Wave Stupor

Mochizuki, Hidetaka; Tobo, Mizue; Itoi, Kokichi

doi:10.1111/j.1440-1819.1980.tb01597.x

Cited by 4 publications

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“…Finally, it is possible that living with a congenital skin condition and/or treatment for that condition, for example retinoids or poorly specified traditional and herbal remedies, may influence psychological function. There is a case report of a woman with ichthyosis vulgaris who presented with a schizophrenia-like psychosis and EEG abnormalities similar to our patient [ 27 ]; however, she also had a strong family history of psychosis and learning disability.…”

Section: Discussionsupporting

confidence: 55%

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report

et al. 2017

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BackgroundX-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes. Here, we show for the first time, that X-linked ichthyosis may be comorbid with an additional psychiatric phenotype (psychosis).Case presentationWe report the case of an 11-year-old Saudi Arabian boy with X-linked ichthyosis associated with psychosis, mental retardation, autism spectrum disorder, inattentive attention deficit hyperactivity disorder, and epilepsy. Genetic analysis revealed a 1.68 Mb deletion encompassing STS in 95% of cells while biochemical analysis revealed correspondingly low steroid sulfatase activity consistent with a diagnosis of X-linked ichthyosis. The psychotic symptoms could be reasonably well controlled by administration of an atypical antipsychotic.ConclusionsThis report describes a case of comorbid X-linked ichthyosis and psychosis (most closely corresponding to early-onset schizophrenia) for the first time, and suggests that deficiency for steroid sulfatase and contiguous genes may increase vulnerability to psychosis as well as other psychological disorders.

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Section: Discussionsupporting

confidence: 55%

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report

et al. 2017

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“…Other skin diseases, with dyskeratotic clinical features overlapping those of Darier's disease map to chromosome 17q12-24, near the RARa gene [Rogaev et al, 1993;Torchard et al, 1994;Reis et al, 19941 and the lq21 locus of CRABP2 [Volz et al, 19931. Among them, ichthyosis vulgaris is reported to co-occur with psychosis [Donnet and Samuelian, 1988;Browning and Jones, 1988;Mochizuki et al, 1980;Arai and Matsushita, 1977;Zeligman and locus, or any one of a number of genes at the 17q21 locus of RARa, including microtubule associated protein tau (MAPT). In these disorders abnormal function of retinoid genes or genes regulated by retinoids might result in some cases in ALS, and in other cases might lead to abnormal neuronal migration, resulting in brain pathology and resultant behavioral disorder.…”

Section: Disease Gene Mutation Vs Disease Gene Retinoid Regulationmentioning

confidence: 99%

Chromosomal locations and modes of action of genes of the retinoid (vitamin A) system support their involvement in the etiology of schizophrenia

Goodman

1995

Am. J. Med. Genet.

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Vitamin A (retinoid), an essential nutrient for fetal and subsequent mammalian development, is involved in gene expression, cell differentiation, proliferation, migration, and death. Retinoic acid (RA) the morphogenic derivative of vitamin A is highly teratogenic. In humans retinoid excess or deficit can result in brain anomalies and psychosis. This review discusses chromosomal loci of genes that control the retinoid cascade in relation to some candidate genes in schizophrenia. The paper relates the knowledge about the transport, delivery, and action of retinoids to what is presently known about the pathology of schizophrenia, with particular reference to the dopamine hypothesis, neurotransmitters, the glutamate hypothesis, retinitis pigmentosa, dermatologic disorders, and craniofacial anomalies.

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Genetic disorders presenting as ?schizophrenia?. Karl bonhoeffer's early view of the psychoses in the light of medical genetics

Propping

1983

Hum Genet

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There is overwhelming empirical evidence for the influence of genetic factors in the etiology of schizophrenic psychoses. An appreciable and still increasing number of exogenous factors have been known for decades that are capable of inducing psychoses that present as "schizophrenia" or are more or less similar to it. In this article, genetic disorders--chromosomal abnormalities and Mendelian diseases--are summarized that may be associated with such psychoses. These disorders frequently but not necessarily exhibit additional physical symptoms. Although the majority of schizophrenic psychoses can so far not be explained by exogenous factors or well-defined genetic disorders, the proportion of these etiologies among all cases may be higher than presumed so far, because they evade detection. Data from the literature are discussed in the light of Karl Bonhoeffer's early concept of exogenous reaction types and modern medical genetics.

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A Case of Ichthyosis Vulgalis Associated with Schizophrenia-Like Psychosis and Spike-Wave Stupor

Cited by 4 publications

References 0 publications

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report

Chromosomal locations and modes of action of genes of the retinoid (vitamin A) system support their involvement in the etiology of schizophrenia

Genetic disorders presenting as ?schizophrenia?. Karl bonhoeffer's early view of the psychoses in the light of medical genetics

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