CHILD syndrome ichthyosis
Overview
Ichthyosis refers to a relatively uncommon group of skin disorders characterized by the presence of excessive amounts of dry surface scales. It is regarded as a disorder of keratinization or cornification, and it is due to abnormal epidermal differentiation or metabolism. The ichthyosiform dermatoses may be classified according to clinical manifestations, genetic presentation, and histologic findings. Inherited and acquired forms of ichthyosis have been described, and ocular alterations may occur in specific subtypes.
Symptoms
Conjunctiva - Keratinization and thickening secondary to ectropion Cornea * Exposure keratitis secondary to ectropion * Unilateral megalocornea (lamellar ichthyosis) * Pre-Descemet membrane opacities (X-linked ichthyosis) * Recurrent corneal erosion * Band keratopathy * Salzmann nodules (ichthyosis vulgaris) * Microphthalmos (rare) * Anterior chamber cleavage syndrome (rare) * Enlarged corneal nerves (common to all forms) * Stromal vascularization * Limbal stem cell deficiency (KID syndrome [common])
Diagnosis
A physician often can diagnose ichthyosis by looking at the skin. A family history is also very useful. In some cases, a skin biopsy will be done to help to confirm the diagnosis. In a biopsy, a small piece of skin is removed and examined under a microscope. In some instances, genetic testing may be helpful in making a diagnosis. Ichthyosis is not more or less common in any ethnic group. As of now, there is no way to prevent ichthyosis.
Treatment
Treatments for ichthyosis often take the form of topical application of creams and emollient oils, in an attempt to hydrate the skin. Retinoids are also used for some conditions. Exposure to sunlight may improve or worsen the condition. There can be ocular manifestations of ichthyosis, such as corneal and ocular surface diseases. Vascularizing keratitis, which is more commonly found in congenital keratitis-ichythosis-deafness (KID), may worsen with isotretinoin therapy.