X-linked dominant ichthyosis with peroxisomal deficiency. An ultrastructural and ultracytochemical study of the Conradi-Hunermann syndrome and its murine homologue, the bare patches mouse

Childhood neurological presentation of a novel mitochondrial tRNAVal gene mutation

“…We have investigated a single patient with an mtDNA rearrangement who presented with ichthyosis, and there is a report of a male patient with X-linked ichthyosis and multiple mtDNA deletions [20]. However, the late onset, female sex, and distribution in our patient are not consistent with X-linked ichthyosis Although difficult to prove, in the absence of other features characteristic of a peroxisomal disorder or defect of cholesterol biosynthesis [21], it is reasonable to propose that the ichthyosis in our patient may be directly related to the presence of a pathogenic mtDNA mutation.…”

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.…”

Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease.

“…However, significant inhibition of enzyme activity (> 90%) was required before the barrier abnormality emerged ( 17), consistent with the unusually high glucocerebrosidase activity present in the outer layers of normal epidermis (10). Second, visualization of the SC intercellular domains using Ru04 after fixation (6) has provided new insights into the structural basis of the skin lesions in several inherited and acquired metabolic abnormalities associated with abnormal desquamation (18,19). Third, glucocerebrosidase-deficient mice (Gaucher mice) have been developed by targeted gene disruption (20, 2 1).…”