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Korean J Gastroenterol. 2014 Jul;64(1):40-44. English. Case Reports. https://doi.org/10.4166/kjg.2014.64.1.40
Lee CG , Lim YJ , Kang HW , Kim JH , Lee JK , Koh MS , Lee JH , Huh HJ , Lee SH .
Department of Internal Medicine, Dongguk University Ilsan Hospital, Goyang, Korea. limyj@dongguk.ac.kr
Department of Laboratory Medicine, Dongguk University Ilsan Hospital, Goyang, Korea.
Department of Dermatology, Dongguk University Ilsan Hospital, Goyang, Korea.
Abstract

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent episodes of fever and serosal, synovial, or cutaneous inflammation, caused by a dysfunction of pyrin as a result of mutation within the MEFV gene. It occurs mainly among Mediterranean and Middle Eastern populations, including Jews, Arabs, and Turks. However, FMF cases have been reported outside the Mediterranean and Middle Eastern countries in recent years. Although FMF has been relatively rare in Korea until now, proper recognition of FMF might lead to more frequent diagnoses of FMF. We experienced an interesting case, a 31-year-old Korean man who presented with recurrent abdominal pain with fever and urticarial eruption for 10 years. DNA analysis showed complex mutations (p.Leu110Pro, p.Glu148Gln) in the MEFV gene. To date, three cases have been reported, and this case of FMF with skin conditions is the first case in Korea.

Copyright © 2019. Korean Association of Medical Journal Editors.