Skip to main content

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Journal of Medical Case Reports 1/2017

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

Journal of Medical Case Reports > Ausgabe 1/2017
Amna Malik, Ahmed Bait Amer, Mohammed Salama, Bander Haddad, Muhammad T. Alrifai, Mohammed Al Balwi, William Davies, Wafaa Eyaid



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.


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.

Unsere Produktempfehlungen

e.Med Interdisziplinär


Für Ihren Erfolg in Klinik und Praxis - Die beste Hilfe in Ihrem Arbeitsalltag als Mediziner

Mit e.Med Interdisziplinär erhalten Sie Zugang zu allen CME-Fortbildungen und Fachzeitschriften auf

e.Med Allgemeinmedizin


Mit e.Med Allgemeinmedizin erhalten Sie Zugang zu allen CME-Fortbildungen und Premium-Inhalten der allgemeinmedizinischen Zeitschriften, inklusive einer gedruckten Allgemeinmedizin-Zeitschrift Ihrer Wahl.

Über diesen Artikel

Weitere Artikel der Ausgabe 1/2017

Journal of Medical Case Reports 1/2017 Zur Ausgabe