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Journal of the American Academy of Dermatology
Volume 62, n° 3
pages 480-485 (mars 2010)
Doi : 10.1016/j.jaad.2009.04.028

X-linked ichthyosis: An oculocutaneous genodermatosis

Neil F. Fernandes, MD a, Camila K. Janniger, MD a, b, Robert A. Schwartz, MD, MPH a, b, c,
a Dermatology, New Jersey Medical School, Newark, New Jersey 
b Pediatrics, New Jersey Medical School, Newark, New Jersey 
c Pathology, New Jersey Medical School, Newark, New Jersey 

Reprint requests: Robert A. Schwartz, MD, MPH, Dermatology, New Jersey Medical School, 185 South Orange Ave, Newark, NJ 07103.

X-linked ichthyosis (XLI) is an X-linked recessive disorder of cutaneous keratinization with possible extracutaneous manifestations. It was first described as a distinct type of ichthyosis in 1965. XLI is caused by a deficiency in steroid sulfatase activity, which results in abnormal desquamation and a retention hyperkeratosis. XLI is usually evident during the first few weeks of life as polygonal, loosely adherent translucent scales in a generalized distribution that desquamate widely. These are quickly replaced by large, dark brown, tightly adherent scales occurring primarily symmetrically on the extensor surfaces and the side of the trunk. In addition, extracutaneous manifestations such as corneal opacities, cryptorchidism, and abnormalities related to contiguous gene syndromes may be observed. Diagnosis of XLI is usually made clinically, as the histopathology is nonspecific, but confirmation may be obtained through either biochemical or genetic analysis. Treatment should focus on cutaneous hydration, lubrication, and keratolysis and includes topical moisturizers and topical retinoids

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Key words : genodermatosis, hyperkeratosis, ichthyosis, X-linked

 Funding sources: None.
 Conflicts of interest: None declared.

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