All issues > Volume 47(12); 2004

Case Report

Korean J Pediatr. 2004;47(12):1351-1355. Published online December 15, 2004.

A Case of Rothmund-Thomson Syndrome with Pure Red Cell Aplasia, Autoimmune Hemolytic Anemia and Chronic Respiratory Infection

Jung Hyun JH Lee¹, Eun Seok ES Roh¹, Yoo Rah YR Hong¹, Jae Sun JS Park¹, Ghi Seok GS Seo², Bang B Hur³, Mi Hyang MH 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

Correspondence Jae Sun JS Park ,Email: pjs@ns.kosinmed.or.kr

Abstract

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.

Keywords :Rothmund-Thomson syndrome, Poikiloderma congenita, Short stature, Pure red cell aplasia, Autoimmune hemolytic anemia, Hemochromatosis