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X-linked ichthyosis is a rare genetic skin disorder that affects men, causing rough scales and dry skin. Women act as carriers and may have difficulty in labor. The faulty gene causes a deficiency of an enzyme, steroid sulfate, which plays a role in the breakdown and shedding of old skin. Treatment options include medications and topical skin creams. Patients can usually engage in a wide range of activities, but may need to be selective about clothing purchases to keep skin irritation down. Female carriers should make sure this is noted in their medical records.
X-linked ichthyosis is a rare genetic skin disorder seen in men. Patients with this condition develop rough scales, especially on the extremities, and may experience dry skin and irritation from scaling. Treatment focuses on softening and removing scales and moisturizing the skin to keep the patient comfortable. The women act as carriers and usually have no health problems, although they sometimes experience difficulty in labor and delivery.
This genetic condition is referred to as “X-linked” because the genes involved are located on the X chromosome. In men, who inherit only one copy of this chromosome, any defective genes will be amplified, because there are no matching genes to erase them. The faulty gene causes a deficiency of an enzyme, steroid sulfate, which plays a role in the breakdown and shedding of old skin. Women with two copies of the gene usually produce enough of the enzyme not to experience skin symptoms.
Signs of X-linked ichthyosis begin to appear shortly after birth. Newborns will develop crusty gray to brown scales and in some cases show corneal opacity. As they grow, these scales can harden and cause increasing discomfort. Treatment options may include medications to soften and break up the scales, as well as topical skin creams. Some patients may have fertility issues related to testicular involvement, and men with X-linked ichthyosis may want to consider medical evaluation if they want to have children, so they can learn more about their fertility.
This skin condition is not expected to cause any other medical problems, although it is possible for a patient to have unrelated birth problems. Patients should be careful with skin management, but can usually engage in a wide range of activities, including physical exertion. Some may find that some fabrics are more comfortable than others and may need to adjust to their X-linked ichthyosis by being selective about their clothing purchases to keep skin irritation down.
A woman who knows she has X-linked ichthyosis has the potential to pass it on to her children. She could have a child without her gene by passing on her healthy version of her, or her child could inherit the defective X chromosome. A man with the condition will have carrier daughters passing on his X chromosome. Female carriers should make sure this is noted in their medical records, as it may be relevant to their medical care.
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