What's your diagnosis? It's genetic. Also, the patient prefers to remain indoors. I'll post the correct answer in about three days!
erythropoietic protoporphyria is a relatively mild form of porphyria, although very painful, which arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue The severity varies
Correct answer: Erythropoietic protoporphyria. Both autosomal dominant and recessive inheritence have been seen. Symptoms are provoked by sun exposure. I have nothing more to add to Hazem Elnady's post.
Erythropoetic Protoporphyria - Autosomal dominant - Ferrochelatase def. - Prognosis favorable ”“ normal life span Clinical Manifestations - Primarily a photosensitivity syndrome : in childhood cutaneous symptoms of the skin such as burning or itching after light exposure occurs. Burning is often accompanied by erythema and edema. Light thru a window pane may evoke the symptoms. Chronic symptoms may occur causing scarring and thickening of the skin in light exposed areas with symptoms being more severe in summer. - Liver disease ”“ a minority get liver damage, sometimes even liver cirrhosis from porphyrin crystals which accumulate in hepatic parenchyma. Gall stones are very common. - Neuropathy ”“ eventually there can be enough ↑ in porphobilinogen to result in a neuropathy Rx - β carotene ( takes 1 ”“ 3 mo after initiation of Rx to show improvement ) I have posted my notes on porphyria here - Board Cracking Questions in Biochemistry (Y)
