Etymed
porphyria
Definition
A group of rare metabolic disorders characterized by abnormal production of heme, leading to the accumulation of porphyrins in the blood, urine, and tissues, often causing skin sensitivity to light and other symptoms
Clinical context
A 23-year-old woman presents with painful blisters and scarring on her face and hands after sun exposure. She reports similar episodes over the past year that worsen during summer months. Her skin shows remarkable photosensitivity with minimal sun exposure. She has no history of other medical conditions or medications that could cause photosensitivity.
Mnemonic
PINK porphyria - Pain, Infection, Nervousness, Kidney, Neurological, Photosensitivity