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COMMON RARE DISEASE SERIES 3. Erythropoietic protoporphyria (EPP)


Erythropoietic protoporphyria (EPP) is a form of porphyria, which varies  in severity and can be very painful. It arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the red blood cells (erythrocytes), plasma, skin, and liver. The severity varies significantly from individual to individual.


SearchHospital recommends two medical specialists for EPP in the world as followings,


1. Dr Chung, Jin-Ho, Seoul National University Hospital, South Korea

Professor Jin Ho Chung is devoted to researching on connective tissue disease and rheumatoid disease where both are a type of autoimmune skin disease; he is taking a leading role in the research of skin aging in Korea. He has received a prize, which is an award in excellence in research, in both Seoul National University Hospital and Seoul National University College of Medicine. He


has served as the Director of the Research Department, as well as served as the Associate Dean for Academic Affairs and as the Director in the Office of Medical Education at Seoul National University College of Medicine.


2. Dr Emma Craythorne, Guy's and Thomas' NHS Trust Foundation, UK


 Dr Emma Craythorne MBChB, MRCP (Edin) is a dermatologist and dermatological surgeon. She has been working in our dermatology surgery and laser unit since 2012, where she specialises in the diagnosis and treatment of skin cancers, treatment of severe scarring and laser surgery. Emma is also the current lead of the clinical skin imaging group using reflectance confocal microscopy.