A Case of Rothmund-Thomson Syndrome with Pure Red Cell Aplasia, Autoimmune Hemolytic Anemia and Chronic Respiratory Infection / 소아과
Korean Journal of Pediatrics
;
: 1351-1355, 2004.
Artigo
em Coreano
| WPRIM
| ID: wpr-46060
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndrome de Rothmund-Thomson
/
Choque Séptico
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Dente
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Catarata
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Bronquiectasia
/
Varizes Esofágicas e Gástricas
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Sinusite Maxilar
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Aplasia Pura de Série Vermelha
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Alopecia
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Cabelo
Limite:
Humanos
/
Lactente
Idioma:
Coreano
Revista:
Korean Journal of Pediatrics
Ano de publicação:
2004
Tipo de documento:
Artigo
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