Ichthyoses and Disorders of Keratinization Diagnosis

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Ichthyoses and Disorders of Keratinization Diagnosis

Recessive X-linked ichthyosis. In addition, there is a significant incidence of cryptorchidism in individuals with this syndrome. The locus for this rare genodermatosis is now known to affect the STS (steroid sulfatase) gene on the distal short arm of the X chromosome, and the disease is inherited in X-linked recessive fashion. The underlying metabolic disorder is a deficiency in the enzyme steroid sulfatase.

Source: Section 15 Ichthyoses and Disorders of Keratinization, Prose NS, Kristal L. Weinberg's Color Atlas of Pediatric Dermatology, 5e; 2017

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