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X-linked ichthyosis in Adult
See also in: External and Internal Eye
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X-linked ichthyosis in Adult

See also in: External and Internal Eye
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Contributors: Noah Craft MD, PhD, Lindy P. Fox MD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed

Synopsis

X-linked ichthyosis (XLI) is a genetic disorder of abnormal cornification; skin cells at the stratum corneum are not shed appropriately. The term ichthyosis is derived from the Greek word for "fish" and describes the scaly appearance of the skin in disorders of cutaneous keratinization. X-linked ichthyosis is a genetic disorder of abnormal cornification due to a deficiency of the steroid sulfatase enzyme; skin cells at the stratum corneum are not shed appropriately.

The condition manifests as dirty-appearing scale on the trunk, extremities, and neck. The remainder of the trunk and extremities are also involved, with classic sparing of the face, palms, and soles, as well as the popliteal and antecubital fossae. This condition is exclusive to males and appears before 3 months of age, continuing lifelong. During the first few weeks of life there is desquamation of large, loosely adherent, translucent scales followed by the development of tightly adherent, dark-brown scales. There is no known racial, ethnic, or geographic predilection. It is worse in low-humidity climates.

For more information, see OMIM.

Codes

ICD10CM:
Q80.1 – X-linked ichthyosis

SNOMEDCT:
402771003 – X-linked recessive ichthyosis

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Last Updated: 10/01/2018
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X-linked ichthyosis in Adult
See also in: External and Internal Eye
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X-linked ichthyosis : Bilateral, Brown color, Corneal focal white infiltrate, Corneal opacities, Dry skin, Ichthyotic scaly plaque, Widespread
Clinical image of X-linked ichthyosis
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