Treatment of Ichthyosis and Related Skin Conditions
Because the disorders included in the FIRST family are genetic diseases, at present there are treatments but no permanent cures.  Treatments are focused on increasing skin comfort and preventing or treating complications, such as restrictive movements and skin infections. Therapies may either be topical (e.g., applied directly to the skin) or systemic (e.g., taken by mouth). Often a combination of therapies is used. Because of their unremitting, genetic basis, treatments for these disorders must be daily and ongoing.
There are two basic goals in topical therapies:
1. to reduce the thickness of the scales; and
2. to moisturize the skin. If these goals are achieved, the skin becomes more flexible and less susceptible to painful cracking and tightness. Of course, removal of visible scales also improves appearance; this is an important motivation for older children and adults.
Keratolytics are substances that weaken the connections between corneocytes, and thereby loosen scale. Commonly used keratolytics include salicylic acid, urea, and alpha-hydroxy acids such as lactic and glycolic acids; these are contained in many over the counter and prescription lotions, creams and ointments. Some keratolytics such as salicylic acid can be absorbed through the skin with potentially harmful side effects on the body, and should only be used under the guidance of a physician. Most of these agents are irritating and may sting if there are open areas of skin or fissures. This side effect, in addition to some concerns about potential toxicity, limits their usefulness in infants and pre-school children. Physician guidance is recommended for this age group. Bland creams and ointments (emollients) help to trap water in (moisturize) the skin. Common ingredients in these (mostly) over-the-counter preparations include glycerin, petrolatum, lanolin, and other lipids (fats and oils). Newer products may contain lipids more natural (physiologic) to the stratum corneum (e.g., sterols, ceramides and fatty acids). These formulations tend to be more expensive and may be available only by prescription. Often trial and error efforts are required for an individual to find the formulation that works best for him/her. These emollients are typically applied after soaking in the bathtub to retain the moisture that has been absorbed into the skin, and may need to be reapplied several times throughout the day. Because these treatments are usually not reimbursed by insurance carriers, they result in significant out-of-pocket expenses for families.
Some patients find that occluding all or parts of the body overnight with occlusion suits or plastic food wrap allows water to soak into the skin and soften it well enough for it to slough off with minimal scrubbing the next morning. Using a propylene glycol and water mixture inside the suit may hasten the process. Because this maneuver can increase absorption of topical therapies, these treatments should be under physician guidance.
Many patients find that long baths are helpful in reducing the overall amount of scale on the body. Additives such as baking soda and salt can assist in the process of removing scale. Applying emollients directly after bathing can help to hold in moisture which is added to the skin during a bath. For those with thickening of the palms and soles, there are many mechanical methods which can be used to carefully remove thickened skin; these include using sanding wheels and mechanical paring instruments (Ped-Egg®). Some patients prefer to use these after a bath, while others use them on dry skin.
Retinoids are a class of drugs that are synthetic derivatives of Vitamin A. Both topical and systemic retinoids are used in the treatment of ichthyosis and related skin disorders, although they have not been approved by the FDA for these conditions.  Retinoids are particularly effective in producing a thinner stratum corneum. Topical therapy is limited by the irritation that these agents can produce and by their expense. Nonetheless, topical retinoids can be very useful for management of localized and specific problems. Patients with more severe forms of ichthyosis and related conditions may benefit from systemic retinoids treatment. The two agents currently used are isotretinoin (e.g., Sotret®) and acitretin (Soriatane®). Although very effective in removing scale, these drugs have associated side effects. Some of the potential side effects include elevated blood fats (triglycerides), which may lead to an increased risk of coronary artery disease, and calcification of tendons and ligaments. Children may be at risk for premature closure of bone growth centers, which could result in stunted or asymmetrical bone growth. Most importantly, these drugs cause severe birth defects when taken by pregnant women. The decision to treat with systemic retinoids requires consultation with a physician experienced in their use for these conditions.
Special diets have been advocated for a few of the rarer syndromes (e.g., Refsum disease), but in general, dietary changes have little or no effect on the ichthyoses. Although retinoids are used to treat ichthyosis, taking Vitamin A in excess of normal daily requirements is not recommended. Excess Vitamin A is toxic and can result in cerebral edema (swelling of the brain) and damage to the liver. Children can be particularly sensitive to toxic amounts of Vitamin A.
 FIRST is dedicated to finding cures for its family of disorders through providing support for research into their causes and treatments.
 Off label use (i.e., use of a drug approved for a different condition than the one in question) is a common medical practice. For rare, “orphan” disease like ichthyosis, this may become a necessity, since there may be few or no approved drugs to use as alternatives.
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