Skin inflammatory (nontumor)
Dermal collagen and elastic tissue alterations, and cutaneous deposits
Metabolic abnormalities

Topic Completed: 1 August 2011

Minor changes: 28 March 2019

Copyright: 2002-2019,, Inc.

PubMed Search: Metabolic abnormalities [title]

Mowafak Hamodat, M.B.Ch.B., M.Sc.
Page views in 2019: 83
Page views in 2020 to date: 36
Cite this page: Hamodat M Metabolic abnormalities. website. Accessed May 30th, 2020.
Definition / general
  • Electron microscopy of axillary skin biopsy may be helpful to diagnose metabolic abnormalities, although results may be nonspecific (Hum Pathol 2001;32:649)
Clinical features
  • Adult polyglucosans body disease: may present with peripheral neuropathy, dementia or neurogenic bladder (Ann Neurol 1991;29:448); diagnosis is based on clinical examination, MRI of brain and spinal cord, sural nerve biopsy showing characteristic polyglucosans within nerve tubes, assay of glycogen brancher enzyme (GBE) activity in skin fibroblasts or muscle tissue and molecular genetic testing for GBE1, the only gene known to be associated with APBD
Case reports
Microscopic (histologic) description
  • Adult polyglucosans body disease: skin biopsy of axilla shows inclusions in myoepithelial cells of apocrine glands
Microscopic (histologic) images

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Additional references
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