Erythropoeitic Protoporphyria

Key Points
Type of porphyria which affects areas of the skin which are exposed to sunlight
Caused by a genetic enzyme deficiency
Consists of increased photosensitivity of the skin, causing damage in exposed areas

Erythropoeitic Protoporphyria is a type of porphyria which affects areas of the skin which are exposed to sunlight. The condition typically presents during childhood, and affected children experience discomfort or painful burning after being exposed to sunlight, typically on the hands, face, feet, and ears. While in most cases changes to skin are moderate, the condition may be accompanied by redness, swelling, and blistering, which in turn lead to scarring, crusting, and skin thickening.

Erythropoeitic Protoporphyria is caused by a genetic deficiency of the enzyme ferrochelatase, which leads to a buildup of certain chemicals in the skin, resulting in increased photosensitivity. In rare cases, this buildup may also result in liver disease. Anyone may develop the condition, regardless of race, age or gender group.

Differential Diagnosis (Other conditions with similar appearance)

Drug-induced photosensitivity
Lupus erythematosus
Erythropoietic Porphyria
Hydroa vacciniforme
Polymorphous light eruption
Porphyria cutanea tarda
Urticaria, Solar
Variegate porphyria

Diagnosis
Key Points
Initial diagnosis based on appearance of the affected area
Blood tests will be performed to confirm diagnosis and rule out other conditions

Erythropoeitic protoporphyria is initially diagnosed based on the appearance of the affected area. Blood tests will be performed to confirm the diagnosis and to rule out similar appearing conditions.

Treatment
Condition is lifelong, treatment consists of managing symptoms
Avoiding exposure to sunlight and other strong light sources is imperative
Health care professionals may recommend medications or treatments to assist in reducing sensitivity
OTC Options: Sunscreen, protective clothing, beta-carotene supplements

Erythropoeitic protoporphyria is a lifelong condition, so treatment typically consists of managing symptoms. Avoiding exposure to sunlight and other strong light sources is imperative, and health care professionals may recommend use of sunscreens and protective clothing to minimize exposure. Additionally, certain medications or treatments may be recommended to reduce Photosensitivity, including beta-carotene supplements, cysteine, colestyramine, and certain phototherapy procedures. Associated liver disease should be treated accordingly.