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Related Experiment Videos

[Ichthyosiform scaling in alpha-1,4-glucosidase deficiency].

W Gebhart1, M Mainitz, W Jurecka

  • 1II. Universitäts-Hautklinik Wien.

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete
|April 1, 1988
PubMed
Summary

Skin scaling in Pompe disease patients suggests a link between glycogen storage and ichthyosis. This highlights the need to consider carbohydrate metabolism disorders in scaling skin conditions.

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Area of Science:

  • Biochemistry
  • Dermatology
  • Genetics

Background:

  • Pompe disease, a lysosomal glycogen storage disorder, presents with infantile and juvenile forms.
  • Ichthyosis vulgaris is a common scaling skin condition.
  • Lysosomal glycogen accumulation is a hallmark of Pompe disease.