RECESSIVE X-LINKED ICHTHYOSIS

RXLI is an X-linked ichthyosis and thus predominantly affects male patients. Female carriers may exhibit a mild ichthyosis and during pregnancy, they may fail to spontaneously enter labor.

• Rare ichthyosis of males.
• Deletion of ARSC1 which encodes arylsulfatase C = steroid sulfatase.
• Cryptorchidism and testicular cancer have been associated.
  
• Corneal opacity could also be observed in 10-15% of affected individuals but do not affect vision.

Clinical

In this type of ichthyosis, the scales tend to be larger, darker, and thicker. The palms, soles, central face and flexures are usually spared. Onset is at birth or within the first 3 months of life. A milder form with skin features of just dryness and/or eczema occurs. The more widespread use of genomic analysis may identify these patients with "mild" RXLI as opposed to their presenting with large, dark ichthyotic scale.

Treatment

Ammonium lactate 12% lotion applied QD-BID is very helpful. If this fails, tazarotene cream was useful topically in one study. Oral acitretin has been used but the condition returns to baseline once the medication is stopped.

Additional Pictures

RegionalDerm

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