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Skin-nontumor / Clinical Dermatology

Other dermatoses

Metabolic abnormalities

Reviewer: Mowafak Hamodat, MB.CH.B, MSc., FRCPC (see Reviewers page)
Revised: 5 September 2011, last major update August 2011
Copyright: (c) 2002-2011, PathologyOutlines.com, Inc.


● 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

● Skin biopsy to diagnosis adult polyglucosan body disease (Arch Pathol Lab Med 2001;125:519)

Micro description

● Adult polyglucosans body disease: skin biopsy of axilla shows inclusions in myoepithelial cells of apocrine glands

Micro images

Various images

Additional references

eMedicine - inborn errors of metabolism

End of Skin-nontumor / Clinical Dermatology > Other dermatoses > Metabolic abnormalities

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