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Do you know this Syndrome
被引：1
|作者：
Marques, Silvio Alencar
[1
]
Pereira, Fabiola de Paula
[1
]
Stolf, Hamilton Ometto
[1
]
机构：
[1] Univ Estadual Paulista, Dept Dermatol & Radioterapia, Fac Med Botucatu, BR-18618000 Botucatu, SP, Brazil
关键词：
Alopecia;
Cataract;
Poikiloderma congenitale;
Rothmund-Thomsom syndrome;
D O I：
10.1590/S0365-05962008000500014
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
Rothmund-Thomson syndrome is an autosomal recessive disorder of variable expression associated to mutations in the RECQ14 gene. Poikilodermatous rash, alopecia, growth and development defects, juvenile cataracts, dental abnormalities and predisposition to skin cancer and osteosarcoma are the main characteristics of this, syndrome. The case of a 29-year-old woman with specific cutaneous lesions since childhood, bilateral cataracts before 20 years of age and squamous cell carcinoma at the age of 26 is reported.
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页码：476 / 479
页数：4
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