Rothmund–Thomson syndrome is an autosomal recessive genetic disorder which is characterized by poikiloderma of the face, small stature, sparse scalp hair, juvenile cataracts, radial aplasia, and predisposition to cancers. Facial redness is particularly characteristic of this syndrome with redness gradually spreading over the four limbs. The redness appears within a year of birth and then progresses to poikiloderma. The causative gene for Rothmund–Thomson syndrome is RECQL4, which is essential for genetic replication and repair. RECQL4 mutations are found in approximately 60% of all patients with Rothmund–Thomson syndrome. Some researchers classify Rothmund–Thomson syndrome with RECQL4 mutations as type II and that without RECQL4 mutations type I. Rothmund–Thomson type I is characterized by poikiloderma, ectodermal malformation, and juvenile cataracts, whereas Rothmund–Thomson type II is characterized by poikiloderma, congenital bone defects, the complication of osteosarcoma in infancy, and the complication of skin cancer with aging.
KeywordsRothmund–Thomson syndrome RAPADILINO syndrome Baller–Gerold syndrome RECQL4 Poikiloderma Osteosarcoma
- 5.Kaneko H (research representative). Survey of genetic repair defects (Bloom syndrome, Rothmund–Thomson syndrome, RAPADILINO syndrome, and Baller-Gerold syndrome) and research on early diagnosis. Research Grants for Research on Measures for Intractable Diseases supported by the Ministry of Health, Labour and Welfare of Japan. Annual Report 2011 (in Japanese).Google Scholar
- 7.Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M. The mutation spectrum in RECQL4 disease. Eur J Hum Genet. 2009;17:151–8.CrossRefGoogle Scholar