Pathogenesis of Desquamation and Permeability Barrier Abnormalities in RXLI

In 1978, recessive X-linked ichthyosis (RXLI) was linked to deficiency of the microsomal enzyme, steroid sulfatase (SSase) (1,2). The SSase gene has been the subject of considerable research, because of its location on the distal tip of the short arm of the X chromosome (2-6). Patients with RXLI display gene mutations/ deletions (7-11), resulting in ichthyosiform skin changes with occasional extracutaneous organ system involvement, due to contiguous gene syndromes (12,13).