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KMID : 0367420040470121351
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Journal of Korean Pediatric Society
2004 Volume.47 No. 12 p.1351 ~ p.1355
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A Case of Rothmund-Thomson Syndrome with Pure Red Cell Aplasia, Autoimmune Hemolytic Anemia and Chronic Respiratory Infection.
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Lee Jung-Hyun
Nho Un-Seok
Hong Yoo-Rha
Park Jae-Sun
Suh Kee-Suck
Huh Bang
Kim Mi-Hyang
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Abstract
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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. (Korean J Pediatr 2004;47:1351-1355)
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KEYWORD
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Rothmund-Thomson syndrome, Poikiloderma congenita, Short stature, Pure red cell
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