Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study

Autosomal dominant chronic progressive external ophthalmoplegia (AdPEO) is a muscle mitochondrial disorder due to multiple large scale rearrangements of the mitochondrial DNA. This disorder is probably due to a nuclear defect which causes genetic instability or an impairment in the replication of mitochondrial DNA. X-linked ichthyosis (XLI) is a skin disorder caused by a deletion in the steroid-sulphatase gene. Here we report the clinical, biochemical, morphologic and molecular genetic findings in a patient affected by both AdPEO, inherited by the father, and steroid-sulphatase-deficiency, inherited by the mother. The association in the same patient of the two inherited diseases is merely casual and does not seem to influence the phenotypic expression of the two diseases.