Age of onset of X-linked ichthyosis.

Main Article Content

p. 241

Abstract

X-linked ichthyosis is a recessive skin disorder, which is inherited from the healthy carrier mother with a defective X chromosome due to a mutation of the gene coding for the enzyme steroid sulfatase, which is located at the end of the short arm of the X chromosome. The carrier mother, due to the presence of a compensatory X chromosome has only mild symptoms, such as corneal punctuation which can be seen mainly in the affected male with a slit lamp. This form of ichthyosis is important for the possible associations and obstetric complications. Moreover, it was the first form of ichthyosis in which was documented an alteration of lipid metabolism. X-linked ichthyosis can be present at birth but more often becomes evident in the first few months of age, sometimes at the age of 2 years (1, 2). The age of onset could be related to the severity of the disease.

Keywords

Article Details