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Ichthyosis is a genetic disorder characterized by dry, thick, scaly skin. The X-linked form of Ichthyosis is relatively common, affecting 1 in 6,000 males in the United States. It does not predominate in any specific ethnic background. It affects primarily males, although a few rare cases were reported in females. Onset of the disease typically occurs at birth or during early infancy. Symptoms include drying and scaling of the skin in the neck, upper trunk and scalp. The face takes on a “dirty-face” appearance - splotchy dirty yellow or dark brown color with dark scales. Corneal opacities may also be present in patients. Ichthyosis is generally not a life threatening or debilitating disease, however, there is no cure and treatment must be administered continuously.
Treatment of Ichthyosis is topical and aims to reduce scaly build up and to moisturize the skin. Severe cases of Ichthyosis can result in extreme dryness and scaling, causing pain and bleeding. For the most part, Ichthyosis is perceived more by patients as a nuisance than a disorder.
There are different forms of Ichthyosis. The X-linked type is caused by steroid sulfatase (STS) deficiency. 90% of patients with X-linked Ichthyosis have either complete or partial deletion of the STS gene located on the X chromosome. X-linked Ichthyosis rarely occurs among females and their symptoms a generally less pronounced. Couples with a familial history of Ichthyosis may take advantage of a new technology called Pre-Implantation Genetic Diagnosis (PGD). PGD tests for some genetic defects and determines the sex of the embryo prior to implantation. Through this, the chances of having an affected child is significantly reduced. In considering PGD, the advice of a genetic counselor and a thorough genetic evaluation is imperative. Due to complex inheritance patterns, a genetic counselor can determine whether PGD will beneficial. For now, the different types of Ichthyosis that have been found to be X-linked are:
Ichthyosis with male hypogonadism
Ichthyosis Follicularis, Atrichia and Photophobia Syndrome
Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration
Ichthyosis, Follicular Atrophoderma, Hypotrichosis & Hypohidrosis
However, PGD is continuously being improved so it may in the near future test for more and more genetic diseases, including the non-X-linked form of Ichthyosis.
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