Table of ContentsDefinition / general | Clinical features | Case reports | Microscopic (histologic) description | Microscopic (histologic) images | Additional references
Cite this page: Metabolic abnormalities. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/skinnontumormetabolicabnormalities.html. Accessed April 23rd, 2018.
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)
- 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
- Skin biopsy to diagnosis adult polyglucosan body disease (Arch Pathol Lab Med 2001;125:519)
Microscopic (histologic) description
- Adult polyglucosans body disease: skin biopsy of axilla shows inclusions in myoepithelial cells of apocrine glands