, Volume 89, Issue 7, pp 743-744
Date: 10 Nov 2009

Acquired erythropoietic protoporphyria

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Dear Editor,

Porphyrias are a group of diseases characterized by aberrations in the heme biosynthetic pathway. They can be classified according to the primary site of the enzymatic defect (i.e., hepatic versus erythropoietic) or according to their clinical presentation into acute versus chronic or noncutaneous versus cutaneous forms. Among the cutaneous porphyrias, erythropoietic protoporphyria (EPP) stands out as the only form characterized by an immediate painful reaction to sunlight [1].

We report a case of an acquired variant of EPP developing in a patient with myelodysplastic syndrome most likely due to the genetic instability associated with the disease.

A 66-year-old Caucasian man presented for the evaluation of stinging–burning pain that developed immediately after exposure to sunlight and was restricted to the exposed skin. The condition had started 4 years earlier and had become so severe that the patient avoided direct sunlight completely. Densely woven fabrics but not sunscree ...