Abstract

Skin biopsies were performed in 71 patients affected by the following disorders: ceroid-lipofuscinoses (17 cases), mucopolysaccharidoses (13 cases) mucolipidoses (seven cases), lipidoses (18 cases), metabolic diseases to be further classified (seven cases), acid maltase deficiency (nine cases). After a survey of semithin sections, the skin specimens were examined with the electron microscope. In most of the cases, epithelial cells, hair follicles, fibroblasts, eccrine sweat glands, smooth muscle cells, sebaceous glands, and nerve bundles were available. In 62 cases (87.3%), positive diagnostic information was obtained while in seven other cases (9.9%) suggestive features were discovered which could support the final diagnosis. In only two cases (2.8%) were the results negative. We conclude that, in association with enzymatic assays in the cultured fibroblasts, a skin biopsy specimen provides a simple opportunity for the combination of both morphological and biochemical diagnosis of storage disorders, precluding major surgical procedures.