Celebrating Our AnniversaryEducate, inspire, and connect those touched by ichthyosis and related disorders through emotional support, information, advocacy, and research funding for better treatments and eventual cures.
Low estriol levels detected in prenatal screenings can be a marker for X-linked ichthyosis. Ichthyosis is a family of rare genetic skin diseases, characterized by thick, dry, cracked, and scaling skin. The genetic defect in X-linked ichthyosis causes a deficiency of the enzyme steroid sulfatase. X-linked ichthyosis is considered one of the more mild forms of ichthyosis and is treatable with topical creams and lotions. Children with X-linked ichthyosis often appear normal at birth. Several days following birth the skin typically peels and flakes in an exaggeration of the normal pattern of neonatal desquamation. Afterward, dry flaky scales are usually present on the trunk and arms and legs. The symptoms of this form of ichthyosis are largely limited to the skin; that is X-linked ichthyosis does not cause neurological or developmental impairments. However, there is an increased incidence of cryptorchidism (failure of the testes to descend from the abdomen to the scrotum during development.