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Korean Journal of Pediatrics 2004;47(12):1351-1355.
A Case of Rothmund-Thomson Syndrome with Pure Red Cell Aplasia, Autoimmune Hemolytic Anemia and Chronic Respiratory Infection
Jung Hyun Lee1, Eun Seok Roh1, Yoo Rah Hong1, Jae Sun Park1, Ghi Seok Seo2, Bang Hur3, Mi Hyang Kim4
1Department of Pediatrics, College of Medicine, Kosin University, Busan, Korea
2Department of Dermatology, College of Medicine, Kosin University, Busan, Korea
3Department of Pathology, College of Medicine, Kosin University, Busan, Korea
4Department of Laboratory Medicine, College of Medicine, Kosin University, Busan, Korea
순적혈구 빈혈, 자가면역성 용혈성 빈혈과 만성 호흡기 감염을 합병했던 Rothmund-Thomson 증후군 1례
이정현1, 노은석1, 홍유라1, 박재선1, 서기석2, 허방3, 김미향4
1고신대학교 의과대학 소아과학교실
2고신대학교 의과대학 피부과학교실
3고신대학교 의과대학 병리학교실
4고신대학교 의과대학 진단검사의학교실
Correspondence:  Jae Sun Park,
Email: pjs@ns.kosinmed.or.kr
Rothmund-Thomson syndrome(RTS), or poikiloderma congenita, is a rare, multisystem disorder. It is inherited genetically as an autosomal recessive trait, occurring predominantly in females(1.4 : 1). The RTS is comprised of poikiloderma, short stature, sparse hair, juvenile cataracts, skeletal defects, dystrophic teeth and nails, photosensitivity, and hypogonadism. We report a case of RTS who died of bleeding from esophageal varices, pulmonary hemorrhage and septic shock at 25 years of age and had suffered from various diseases such as transient pure red cell aplasia, autoimmune hemolytic anemia, chronic maxillary sinusitis, bronchiectasis, secondary hemochromatosis, and liver cirrhosis in addition to poikiloderma, alopecia, and sexual infantalism which are typical of RTS.
Key Words: Rothmund-Thomson syndrome, Poikiloderma congenita, Short stature, Pure red cell aplasia, Autoimmune hemolytic anemia, Hemochromatosis


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