Abstract
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.
Highlights
X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase
Malik et al Journal of Medical Case Reports (2017) 11:267 neuroligin 4 gene (NLGN4X) [8]. Consistent with these data, genetic variants within STS are associated with inattentive symptoms in children with attention deficit hyperactivity disorder (ADHD) [9, 10] while mice lacking the Sts gene exhibit behavioral phenotypes associated with developmental disorders including inattention, hyperactivity, elevated emotional reactivity, behavioral perseveration, and aggression [11,12,13]
The limited clinical literature documents several cases of children in which X-linked ichthyosis (XLI) is comorbid with epilepsy/EEG abnormalities, mental retardation, and ADHD or an autism-related condition [8, 20, 21], while animal studies have emphasized a link between Sts deficiency and cognitive and behavioral phenotypes associated with developmental disorders [11,12,13]
Summary
This case and the previous limited literature highlight the severe behavioral, psychiatric, and neurological symptoms that may be comorbid with XLI. Given the prevalence of the condition (~1 in 3000 to 6000 men, equivalent to over 1.2 million individuals worldwide [4]), there is a need for the physical and psychological phenotypes associated with it (including the prevalence of psychosis) to be comprehensively described. Such an endeavor will allow individuals such as our case to have their condition and potential comorbidities recognized and treated at an early stage, and to be monitored closely by appropriate multidisciplinary teams
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