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Rothmund-Thomson syndrome


Tuesday 28 October 2003

Definition: 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.

In this disorder, affected individuals show growth deficiency, photosensitivity with poikilodermatous skin changes, cataracts, early greying and loss of hair, as well as some increase in cancer incidence. As with Werner syndrome, the cancer predispositon in RTS individuals is of a limited range, mainly osteogenic sarcomas.


- hereditary dermatosis
- atrophy
- pigmentation
- telangiectasia
- juvenile cataract
- saddle nose
- congenital bone defects
- disturbances of hair growth
- hypogonadism.
- growth deficiency
- photosensitivity
- poikilodermatous skin changes
- early greying
- loss of hair
- increase in cancer incidence (cancer predispositon), mainly osteogenic osteosarcomas.


RECQL4 gene is mutated in some cases of Rothmund-Thomson syndrome (RTS) (MIM.268400).

- mutations in the RECQL4 gene (MIM.603780) on chromosome 8q24.3 coding for helicase recQ-like type 4

Tumoral predisposition

- osteosarcoma (HPA:15245) (10986997)

See also



- Rothmund-Thomson syndrome. Larizza L, Roversi G, Volpi L. Orphanet J Rare Dis. 2010 Jan 29;5:2. PMID: 20113479

- MIM.268400