Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system

Abstract

Skin biopsies were performed in 71 patients affected by the following disorders: ceroid-lipofuscinoses (17 cases), mucopolysaccharidoses (13 cases) mucolipidoses (7 cases), lipidoses (18 cases), metabolic diseases to be further classified (7 cases), acid maltase deficiency (9 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, vascular cells, and nerve bundles were available. In 62 cases (87.3%), positive diagnostic information was obtained while in 7 other cases (9.9%) suggestive features were discovered which could support the final diagnosis. In only 2 cases (2.8%) were the results negative. The authors 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.