A 6.5-year-old male patient presents with the classical features of late infantile amaurotic idiocy (Jansky-Bielschowsky type). A brain biopsy performed at the age of 4.5 years had revealed numerous cytosomes with curvilinear profiles in neurons, glialcells and pericytes. In order to determine if more readily available tissues could contribute to the diagnosis, skin biopsies were taken from the patient and his parents. Electron microscopy of the patient’s skin revealed large amounts of typical cytosomes with curvilinear profiles. They were present in smooth muscle cells, eccrine sweat glands, Schwann cells, perineurial cells, pericytes and fibroblasts. We are, therefore, able to confirm the results obtained by Carpenter et al. The innocuous nature of the procedure is evident but its reliability must be confirmed on similar patients at a less advanced stage of the disorder.