Ichthyosis

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Ichthyosis

By | November 2011
Page 1 of 7
Running Head: ICHTHYOSIS

Introduction
Ichthyosis is a dermatologic disorder that is classified by dry, scaly, thickened skin. There are several different types of Ichthyosis that vary by their underlying cause, appearance and/or mode of inheritance. Of the several types of ichthyosis the most common inherited forms are; ichthyosis vulgaris, X-linked ichthyosis, lamellar ichthyosis, epidermolytic hyperkeratosis, congenital ichthyosiform erythroderma. Pathophysiology

In ichthyosis vulgaris is the most common form of ichthyosis, signs usually appear starting at puberty and most commonly appear on the trunk, abdomen, buttocks, and legs as dry skin, and follicular accentuation. Areas of the body that flex are generally free of the scaling associated with this type of ichthyosis. “There is reduced or absence of keratohyalin granules in the epidermis. In addition, there is a decrease or absence of prefilaggrin, a major component of kerathoyalin granules” (Li et al 2010). Also there is “A reported 11.5% association is noted between atopic dermatitis and primary hereditary ichthyosis” (Goins, 2010). It is also believed that there is a genetic mutation in the epidermal protein filaggrin, which usually acts as a barrier for the skin against allergens, water loss and infections.

In epidermolytic hyperkeratosis, the neonates’ skin is red, moist and appears to have widespread blistering or erosions. Later in life the individual will develop hyperkeratosis, a thickening of the stratum corneum layer of the skin, which will affect them the rest of their lives. In this form of ichthyosis it is believed that a mutation of either KRT1 or KRT10. In patients with a KRT1 mutation normally develop palmoplantar keratoderma, thickening of the palms of hands and soles of feet, whereas patients with a KRT10 mutation do not exhibit this manifestation. X-linked ichthyosis can be difficult to differentiate from ichthyosis vulgaris. “Generally, about two-thirds of patients with...