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

BACKGROUND: X-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 ichthy...

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Autores principales: Malik, Amna, Amer, Ahmed Bait, Salama, Mohammed, Haddad, Bander, Alrifai, Muhammad T., Balwi, Mohammed Al, Davies, William, Eyaid, Wafaa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609014/
https://www.ncbi.nlm.nih.gov/pubmed/28934990
http://dx.doi.org/10.1186/s13256-017-1420-2
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author Malik, Amna
Amer, Ahmed Bait
Salama, Mohammed
Haddad, Bander
Alrifai, Muhammad T.
Balwi, Mohammed Al
Davies, William
Eyaid, Wafaa
author_facet Malik, Amna
Amer, Ahmed Bait
Salama, Mohammed
Haddad, Bander
Alrifai, Muhammad T.
Balwi, Mohammed Al
Davies, William
Eyaid, Wafaa
author_sort Malik, Amna
collection PubMed
description BACKGROUND: X-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 PRESENTATION: We 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. CONCLUSIONS: This 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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spelling pubmed-56090142017-09-25 X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report Malik, Amna Amer, Ahmed Bait Salama, Mohammed Haddad, Bander Alrifai, Muhammad T. Balwi, Mohammed Al Davies, William Eyaid, Wafaa J Med Case Rep Case Report BACKGROUND: X-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 PRESENTATION: We 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. CONCLUSIONS: This 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. BioMed Central 2017-09-22 /pmc/articles/PMC5609014/ /pubmed/28934990 http://dx.doi.org/10.1186/s13256-017-1420-2 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Malik, Amna
Amer, Ahmed Bait
Salama, Mohammed
Haddad, Bander
Alrifai, Muhammad T.
Balwi, Mohammed Al
Davies, William
Eyaid, Wafaa
X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report
title X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report
title_full X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report
title_fullStr X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report
title_full_unstemmed X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report
title_short X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report
title_sort x-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609014/
https://www.ncbi.nlm.nih.gov/pubmed/28934990
http://dx.doi.org/10.1186/s13256-017-1420-2
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