X-linked ichthyosis is considered one of the five main types of ichthyosis. It is the second most common type of ichthyosis, with an estimated prevalence of 1 in 6,000 births. The condition can range from mild to severe, and almost occurs only in males. Onset may occur within the first days of life with features that include generalized, fine or rhomboid, adherent, dark brown or light grey, scaling of the skin. It is also associated with corneal opacities of the eye, undescended testicles and neurological abnormalities.
Diagnosis is based mainly on family history and clinical findings, and can be confirmed by biochemical analysis, typically, serum protein electrophoresis, steroid sulfatase (STS) activity test of fibroblasts or leukocytes, and molecular/cytogenetic analyses, including polymerase chain reaction, and/or fluorescent in situ hybridization. There is no definitive treatment for XLI. Management typically involves hydrating and softening the skin with the use of lubricating bath oils and emollients containing humectants and keratolytics to improve scaling of the skin and to improve the appearance of the skin.