X-linked dominant chondrodysplasia punctata: A peroxisomal disorder?

Abstract

X-linked dominant chondrodysplasia punctata is characterised by resolving irregular punctate calcifications of epiphyses, variable ichthyosis and atrophoderma, short stature, and cataracts. We report on a patient with this syndrome who had transiently abnormal peroxisomal function tests. We review the literature and propose that X-linked dominant chondrodysplasia punctata is a peroxisomal disorder and that its phenotype can be explained by X chromosome lyonisation and the relative proliferation of cells expressing the normal X allele.

Thematic review series: Skin Lipids. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism

“…Deficient peroxisomal function in cultured fibroblasts has been described in both CDPX2 and CHILD syndromes (113,(117)(118)(119)(120) and in the murine homolog of EBP deficiency, the bare patches mouse (113), which displays cutaneous defects that, like the phenotype in CDPX2, resolve over time (113,121). The clinical phenotypes of the postsqualene sterologenesis and peroxisome biogenesis disorders bear some striking resemblances (121), including skeletal defects (chondrodysplasia punctata), central nervous system and/or hepatic involvement, and ichthyosis in the PEX7 disorders (rhizomelic chondrodysplasia punctata) and adult RD.…”