Dr. Thatjana Gardeitchik, MD (Nijmegen, the Netherlands) : Neurometabolic Defects in CL
The underlying molecular defects in Cutis Laxa Sybdromes can also be roughly divided in two groups,
based on type of involved pathomechanism : defects in genes coding a « structural » ECM-component or in genes in which mutations can inborn errors of metabolism (IEM) presenting with Cutis Laxa.
The exact way these divergent molecular lead to elastin abnormalities remain unclarified.