Unusual radiographic manifestations of chondrodysplasia punctata

Abstract

We present six cases of chondrodysplasia punctata with radiographic findings that are either very rare or previously unreported in this entity.

Peroxisomes in Dermatology. Part I

“…However, CDP is seen with other genetic conditions, e.g., ganglosidosis, mucolipidosis II, trisomy 21, and can be acquired in utero secondary to warfarin embryopathy, phenacetin, fetal alcohol, and hydantion. 24,25 CDP is a consistent finding in a group of peroxisomal disorders, especially those with characteristic but variable cutaneous manifestations. 22 Qualitative and quantitative peroxisomal dysregulation is demonstrated in most cases of RCDP, XCDP2, autosomal dominant CDP, and CHILD syndrome, and specific genetic defects have been identified in RCDP and in some patients with XCDP2 and CHILD syndrome.…”

“…51 Atherosclerosis correlates with decreased plasmalogen levels and higher oxidative susceptibility of low-density lipoproteins (LDL). 20,25 Activation of PPAR␣ leads to decreased gene expression of apolipoprotein classes C-II and C-III and lowers the ratio of C-III to C-II. 51 This results in an improved clearance of triglyceride-rich remnant lipoproteins from plasma without hindering triglyceride lipolysis by lipoprotein lipase and leads to an increase in circulating high-density lipoproteins (HDL).…”

“…H 2 O 2 is known to stimulate phospholipase D activity; most of the signaling effect of phospholipase D is associated with the production of phosphatidic acid and diacyglycerol. 1,25 Phosphatidic acid inhibits adenyl cyclase and protein kinases, while diacylglycerols activate protein kinase C, which phosphorylates a number of target proteins, including plasma membrane receptors, contractile proteins, and regulatory enzymes. 4,8 Cellular damage secondary to reactive oxygen species (ROS) generated in peroxisomes is prevented by the large amount of catalase in peroxisome and, to a lesser extent, by other antioxidant mechanisms present in peroxisomes Table IV).…”

“…8). [1][2][3][4]25 Molecular oxygen is used by oxidases for the transformation of their substrates with release of H 2 O 2 and OH, which can be toxic to the cell. H 2 O 2 is known to stimulate phospholipase D activity; most of the signaling effect of phospholipase D is associated with the production of phosphatidic acid and diacyglycerol.…”

“…8 Plasmalogen has an antioxidant role and protects lipoproteins from free radicals. 25 Plasmalogen also facilitates membrane fusion and signal transduction, is a major constituent of synaptic membranes, and interacts closely with DHA. 8 Thus, plasmalogen, as DHA, plays a role in signal transduction, particularly with muscarinic cholinergic signals, and also plays a role in ion channel function.…”