Ultrastructural examination of the axillary skin biopsy in the diagnosis of metabolic diseases

• Published in: Human pathology 2001-06, Vol.32 (6), p.649-655
• Main Authors: Abramovich, Caroline M., Prayson, Richard A., McMahon, James T., Cohen, Bruce H.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Axilla; axillary skin biopsy; Biological and medical sciences; Biopsy; Child; Child, Preschool; Disease; electron microscopy; Female; Glycogen - analysis; Humans; Inclusion Bodies - ultrastructure; Infant; Investigative techniques, diagnostic techniques (general aspects); Lipids; Lipids - analysis; Lysosomes - ultrastructure; Male; Medical sciences; metabolic disease; Metabolic disorders; Metabolism, Inborn Errors - diagnosis; Microscopy; Microscopy, Electron; Middle Aged; Miscellaneous. Technology; Mitochondria; Mitochondria - ultrastructure; mitochondrial cytopathy; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Patients; Skin - chemistry; Skin - ultrastructure; Vacuoles - ultrastructure
• ISSN: 0046-8177; 1532-8392
• DOI: 10.1053/hupa.2001.24995

There is little information in the literature regarding the usefulness of ultrastructural examination of axillary skin biopsies in the evaluation of metabolic diseases. This is a retrospective clinicopathologic review of 143 patients who underwent axillary skin biopsies as part of evaluations for metabolic disease. Twenty-three (16%) had abnormalities, classified as follows: mitochondrial (n = 12), lysosomal (n = 6), increased glycogen (n = 3), nonspecific cytoplasmic inclusions (n = 2), ceroid lipofuscinosis (n = 1), and intradermal giant cells containing vacuoles and tubular inclusions (n = 1). Muscle biopsies were performed in 13 of the 23 patients; 11 showed abnormalities, including those related to mitochondria (n = 4) and other nonspecific changes (n = 7). Two patients underwent postmortem examination. Follow-up was available in 21 patients. A clinical or biochemical diagnosis was reached in 11 patients: metachromatic leukodystrophy (n = 2), electron transport chain abnormalities (n = 2), glutaric aciduria type II (n = 1), Unverricht disease (n = 1), Lennox-Gastaut syndrome (n = 1), ketotic hypoglycemia of childhood (n = 1), probable Leigh disease (n = 1), 5-methyl tetrahydrofolate homocystine methyltransferase deficiency (n = 1), and pyruvate dehydrogenase deficiency (n = 1). Of the 120 patients with negative skin biopsy results, 29 had abnormal findings on muscle (n = 27), nerve (n = 7), or brain (n = 3) biopsies. One patient had an abnormal heart biopsy result, and 3 patients underwent postmortem examinations. Follow-up was obtained in 27 of 29 patients. Diagnoses were achieved in 15 patients: electron transport chain abnormalities (n = 5), cortical dysplasia (n = 3), myoclonic epilepsy (n = 1), leukodystrophy (n = 2), Pallister-Killian mosaic syndrome (n = 1), Rett syndrome (n = 1), Landau-Kleffner syndrome (n = 1), and mitochondrial cardiomyopathy (n = 1). In conclusion, axillary skin biopsy is helpful in the evaluation of some causes of metabolic disease, but often the findings are nonspecific. A negative biopsy result does not rule out the possibility of metabolic disease, but a positive result may provide direction for further evaluation. HUM PATHOL 32:649-655. Copyright © 2001 by W.B. Saunders Company