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

See also in: External and Internal Eye
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Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed

Synopsis

X-linked ichthyosis is a genetic disorder of abnormal cornification caused by a deficiency in steroid sulfatase, which is involved in normal desquamation of the stratum corneum. It is classically characterized by dirty-appearing scale on the sides of the neck ("dirty neck") and the periumbilical area. 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 almost exclusive to males, with exaggerated desquamation along the flanks of neonates being a common presentation. However, the disease phenotype ranges from absent to marked and diffuse scaling. Most commonly, the disease is diagnosed prenatally due to a low estriol on a maternal triple screen and confirmed by fluorescent in situ hybridization (FISH).

The placenta is of fetal origin and is also deficient in steroid sulfatase. For this reason, mothers with an affected child experience prolonged labor, possibly requiring cesarean section or vacuum-assisted delivery.

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 Child
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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