Rothmund-Thomson syndrome
MIM.268400
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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.
Synopsis
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.
Etiology
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
RECQLs
References
Rothmund-Thomson syndrome. Larizza L, Roversi G, Volpi L. Orphanet J Rare Dis. 2010 Jan 29;5:2. PMID: #20113479#