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Angiokeratomas, not everything is Fabry disease.

Daniel Cuestas1,2, Alejandra Perafan1,2, Yency Forero3

  • 1Dermatology Program, El Bosque University, Bogotá, Colombia.

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Angiokeratoma corporis diffusum, often linked to lysosomal storage disorders, can rarely occur in healthy individuals. This review highlights their clinical features and the importance of considering non-disease-related causes.

Area of Science:

  • Dermatology
  • Genetics
  • Biochemistry

Background:

  • Angiokeratoma corporis diffusum (ACD) presents as benign capillary malformations.

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  • ACD is typically associated with Fabry disease and other lysosomal storage disorders.
  • Rare instances of ACD occur in individuals without underlying genetic or metabolic conditions.