Diagnosis: Erythropoetic Protoporphyria
Description: Erythropoietic protoporphyria is a type of inherited porphyrias which is caused by the deficiency of the enzyme ferrochelatase resulting in accumulation of protoporphyrins in red blood cells that causes acute, painful photosensitivity and potential liver disease. It typically presents in early childhood with immediate pain and crying on sun exposure.
Morphology: Erythema
Site: Face
Sex: M
Age: 12
Type: Clinical
Submitted By: Shahbaz Janjua
Differential DiagnosisHistory:
A 12 year old boy presented with a history of increased sun sensitivity and painful erythema of the face and dorsa of hands since early childhood. On examination there was diffuse erythema, thickening, and crusting of the skin of face and dorsa of the hands. Frecking and development of multiple nevomelaocytic nevi was also noted over the affected skin.