Friday, March 30, 2012

Rothmund-Thomson Syndrome

Rothmund-Thomson syndrome (poikiloderma congenitale) is a rare autosomal recessive disorder that presents in infancy with skeletal issues (see below), skin rash (poikiloderma), partial or total alopecia, eye issues (photophobia, cataract, microphthalmia, microcornea, strabismus, and glaucoma), and hormonal issues (hypogonadism, growth hormone deficiency). The patients are also predisposed to developing osteosarcoma and basal and squamous cell carcinoma of the skin.

Skeletal problems that can be seen on radiographs include mineralization disorders (osteoporosis or osteosclerosis), radial hypoplasia or agenesis, absent thumb, mild epiphysial dysostosis and metaphyseal sclerosis, knee subluxation, and flattened and elongated vertebral bodies.


  • Gelaw B, Ali S, Becker J. Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma. Skeletal Radiol. 2004 Oct;33(10):613-5.
  • Mehollin-Ray AR, Kozinetz CA, Schlesinger AE, Guillerman RP, Wang LL. Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. AJR Am J Roentgenol. 2008 Aug;191(2):W62-6.

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