A Case of Rothmund-Thomson Syndrome with Pure Red Cell Aplasia, Autoimmune Hemolytic Anemia and Chronic Respiratory Infection.
- Author:
Jung Hyun LEE
1
;
Eun Seok ROH
;
Yoo Rah HONG
;
Jae Sun PARK
;
Ghi Seok SEO
;
Bang HUR
;
Mi Hyang KIM
Author Information
1. Department of Pediatrics, College of Medicine, Kosin University, Busan, Korea. pjs@ns.kosinmed.or.kr
- Publication Type:Case Report
- Keywords:
Rothmund-Thomson syndrome;
Poikiloderma congenita;
Short stature;
Pure red cell aplasia;
Autoimmune hemolytic anemia;
Hemochromatosis
- MeSH:
Alopecia;
Anemia, Hemolytic, Autoimmune*;
Bronchiectasis;
Cataract;
Esophageal and Gastric Varices;
Hair;
Hemochromatosis;
Hemorrhage;
Humans;
Hypogonadism;
Infant;
Liver Cirrhosis;
Maxillary Sinus;
Maxillary Sinusitis;
Red-Cell Aplasia, Pure*;
Rothmund-Thomson Syndrome*;
Shock, Septic;
Tooth
- From:Korean Journal of Pediatrics
2004;47(12):1351-1355
- CountryRepublic of Korea
- Language:Korean
-
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.
