Background: Angiokeratoma corporis diffusum is a clinical variant of angiokeratoma that is typically associated with an enzyme deficiency in the metabolism of glycoprotein, most notably Fabry disease, resulting in many other systemic manifestations. Observations: We report a case of angiokeratoma corporis diffusum that did not have an identifiable enzyme deficiency. A review of the literature revealed few similar cases. Conclusion: Angiokeratoma corporis diffusum without recognizable enzyme deficiencies appears to be a distinct clinical entity with a benign course.
ASJC Scopus subject areas