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Open Access 01-12-2017 | Case report

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

Authors: Amna Malik, Ahmed Bait Amer, Mohammed Salama, Bander Haddad, Muhammad T. Alrifai, Mohammed Al Balwi, William Davies, Wafaa Eyaid

Published in: Journal of Medical Case Reports | Issue 1/2017

Abstract

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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Title: X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report
Authors: Amna Malik
Ahmed Bait Amer
Mohammed Salama
Bander Haddad
Muhammad T. Alrifai
Mohammed Al Balwi
William Davies
Wafaa Eyaid
Publication date: 01-12-2017
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2017
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-017-1420-2

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

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

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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