Ichthyoses and Disorders of Keratinization Diagnosis
What's your 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.