X-linked ichthyosis: an oculocutaneous genodermatosis
NF Fernandes, CK Janniger, RA Schwartz - Journal of the American …, 2010 - Elsevier
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 …
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 …