Korean J Pediatr.
2004 Dec;47(12):1351-1355.
A Case of Rothmund-Thomson Syndrome with Pure Red Cell Aplasia, Autoimmune Hemolytic Anemia and Chronic Respiratory Infection
- Affiliations
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- 1Department of Pediatrics, College of Medicine, Kosin University, Busan, Korea. pjs@ns.kosinmed.or.kr
- 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.
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.
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