Morphological Study of Skin Biopsy Specimens: a Contribution to the Diagnosis of Metabolic Disorders with Involvement of the Nervous System

Overview

Journal J Neurol Neurosurg Psychiatry

Publisher BMJ Publishing Group

Specialties Neurology
Neurosurgery
Psychiatry

Date 1978 Mar 1

PMID 416179

Citations 11

Authors

J J Martin

C Ceuterick

Affiliations

Soon will be listed here.

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.

Citing Articles

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Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency.

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Ultrastructural study on nervous system of fetus with GM1-gangliosidosis type 1.

Yamano T, Shimada M, Okada S, Yutaka T, Kato T, Inui K Acta Neuropathol. 1983; 61(1):15-20.

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The pathology of the feline model of mucopolysaccharidosis I.

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