Skin-nontumor / Clinical dermatology
Other dermatoses
Metabolic abnormalities

Author: Mowafak Hamodat, M.D., MB.CH.B, MSc., FRCPC (see Authors page)

Revised: 15 July 2016, last major update August 2011

Copyright: (c) 2002-2016, PathologyOutlines.com, Inc.

PubMed Search: Metabolic abnormalities [title]

Cite this page: Metabolic abnormalities. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/skinnontumormetabolicabnormalities.html. Accessed December 10th, 2016.
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
Micro Description
  • Adult polyglucosans body disease: skin biopsy of axilla shows inclusions in myoepithelial cells of apocrine glands
Micro Images

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Additional References