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Overview of Ichthyosis Diagnosis and Treatment

written by: Emma Lloyd•edited by: DaniellaNicole•updated: 4/30/2009

In its most severe forms, ichthyosis can be both painful and debilitating, although mild forms of the disease cause only cosmetic difficulties. Ichthyosis can be diagnosed in a number of different ways, depending on the type of disease involved.

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    What is Ichthyosis?

    Ichthyosis is a term that describes a group of skin disorders in which the skin becomes extremely dry and scaly, flaky or thickened. This group of skin disorders is so-named because the skin of affected individuals somewhat resembles the scales of a fish; the word itself is derived from ichthys, the ancient Greek word for fish.

    The condition is characterized not only by the appearance of the skin, but also by the underlying cause of this symptom. In most forms of ichthyosis, the condition is the result of the fact that the natural shedding of skin cells is greatly slowed down. In some cases, the condition is exacerbated by an increased rate in the production of skin cells.

    Almost all forms of ichthyosis are genetic disorders, and only a very small number of cases of severe “acquired" ichthyosis have ever been recorded. Approximately 95% of cases of the condition are of a variety called ichthyosis vulgaris, and this type of ichthyosis has a prevalence of around one in 250.

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    Diagnosis of Ichthyosis

    Depending on the type of condition involved and available medical technology, a number of different methods can be used to diagnose ichthyosis. Ultrasound can often be used to diagnose severe congenital ichthyosis in utero, before the child is born. However, while ichthyosis ultrasound can diagnose certain variations of the condition, not all types of congenital ichthyosis can be diagnosed in this way. For example, the Harlequin variety of the disease (which is very often fatal) can be diagnosed via ichthyosis ultrasound, and several types can be diagnosed before birth by means of genetic testing of amniotic fluid. For certain other varieties for which no prenatal test exists, diagnosis cannot be made until after birth.

    In such cases, ichthyosis can be diagnosed on the basis of the skin’s appearance as well as family medical history and in some cases, a biopsy to determine the exact type of ichthyosis involved.

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    Ichthyosis Treatment

    Currently ichthyosis cannot be prevented or permanently cured; however some of the less severe forms of the condition can be treated successfully to reduce pain and irritation. For the most part, ichthyosis treatment involves the regular topical application of medicated creams or oils in an attempt to keep skin as hydrated as possible.