Rothmund-Thomson syndrome
poikiloderma atrophicans and cataract
Hereditary dermatosis characterized by atrophy, pigmentation, and telangiectasia and frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, and hypogonadism.
MIM.268400
Etiology
mutations in the RECQL4 gene (MIM.603780) on chromosome 8q24.3 coding for helicase recQ-like type 4
Tumoral predisposition
osteosarcoma (#10986997#)
MIM.268400
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