Article
Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism.
The Journal of investigative dermatology - 1 Nov 2011
Paller Amy S, van Steensel Maurice A M, Rodriguez-Martín Marina, Sorrell Jennifer, Heath Candrice, Crumrine Debra, van Geel Michel, Cabrera Antonio Noda, Elias Peter M
Abstract excerpt
Identification of the underlying genetic, cellular, and biochemical basis of lipid metabolic disorders provides an opportunity to deploy corrective, mechanism-targeted, topical therapy. We assessed this therapeutic approach in two patients with Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome, an X-linked dominant disorder of distal cholesterol metabolism. On the basis of...
Topics
Join the communities discussing this publication.