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Anais Brasileiros de Dermatologia
On-line version ISSN 1806-4841
MARQUES, Silvio Alencar; PEREIRA, Fabíola de Paula and STOLF, Hamilton Ometto. Do you know this Syndrome?. An. Bras. Dermatol. [online]. 2008, vol.83, n.5, pp.476-479. ISSN 1806-4841. http://dx.doi.org/10.1590/S0365-05962008000500014.
Rothmund-Thomson syndrome is an autosomal recessive disorder of variable expression associated to mutations in the RECQL4 gene. Poikilodermatous rash, alopecia, growth and development defects, juvenile cataracts, dental abnormalities and predisposition to skin cancer and osteosarcoma are the main characteristics of this syndrome. The case of a 29-year-old woman with specific cutaneous lesions since childhood, bilateral cataracts before 20 years of age and squamous cell carcinoma at the age of 26 is reported.
Keywords : Alopecia; Cataract; Poikiloderma congenitale; Rothmund-Thomson syndrome.