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Eccrine gland involvement in Krabbe's disease.

M Elleder1

  • 1First Hlava's Institute of Pathology, First Medical Faculty, Charles University Studnickova, Prague, Czechoslovakia.

Virchows Archiv. A, Pathological Anatomy and Histopathology
|January 1, 1992
PubMed
Summary

Lysosomal storage inclusions in skin eccrine glands indicate Krabbe's disease may affect multiple organs. This finding could aid in diagnosing this rare lysosomal storage disorder through skin biopsies.

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Area of Science:

  • Biochemistry
  • Cell Biology
  • Neurology

Background:

  • Krabbe's disease is a severe, inherited lysosomal storage disorder.
  • It is characterized by the deficiency of the enzyme galactocerebrosidase.
  • This deficiency leads to the accumulation of toxic substrates like galactocerebroside.

Purpose of the Study:

  • To investigate the presence and nature of lysosomal storage in skin eccrine glands in Krabbe's disease.
  • To determine if eccrine glands are involved in the generalized storage process of this lysosomal enzymopathy.
  • To assess the potential diagnostic value of skin biopsies in Krabbe's disease.

Main Methods:

  • Histopathological examination of skin biopsies from patients with Krabbe's disease.
  • Microscopic analysis of eccrine gland secretory and myoepithelial cells.
  • Observation of lysosomal storage inclusions and degenerative changes.

Main Results:

  • Lysosomal storage inclusions were identified in skin eccrine gland secretory and myoepithelial cells in three Krabbe's disease cases.
  • Significant degenerative changes, including cell necrosis, were observed alongside storage.
  • Findings suggest a widespread storage process and high galactocerebroside turnover in eccrine gland epithelium.

Conclusions:

  • Skin eccrine glands are affected in Krabbe's disease, indicating a generalized storage process.
  • The observed pathology in eccrine glands suggests high galactocerebroside turnover.
  • Skin biopsy findings may be valuable for the diagnosis of Krabbe's disease.

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