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Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis, which is characterized by poikiloderma and photosensitivity with variable features including alopecia, sparse hair, short stature, skeletal abnormalities, juvenile cataracts, and an...
Rothmund-Thomson syndrome (RTS), is a rare autosomal recessive disorder, characterized by:skin photosensitivity, poikiloderma, sparse hair, sparse eyebrows/lashes, short stature, skeletal abnormalities, cataracts, and an increased risk of malignancy. Skeletal abnormalities...
Lee JH, Roh ES, Hong YR, Park JS, Seo GS, Hur B, Kim MH
KMID: 2279498
Korean J Pediatr.
2004 Dec;47(12):1351-1355.
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...
Osteosarcoma is a primary malignant bone tumor that accounts for 5% of childhood cancers. Despite the use of chemotherapy, long-term survival has reached a plateau, and this figure has not...
Hereditary sclerosing poikiloderma (HSP) is a very rare disease. The clinical features are principally widespread poikiloderma and linear hyperkeratotic and sclerotic bands. We report an 18-yr-old male who presented reticular...