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Revista argentina de dermatología
versión On-line ISSN 1851-300X
Resumen
ZARANTE, AM; SUAREZ-OBANDO, F y ACOSTA, JC. Rothmund-Thomson type I syndrome: a case report in colombian poblation and review of the literature. Rev. argent. dermatol. [online]. 2013, vol.94, n.4, pp.17-21. ISSN 1851-300X.
Rothmund-Thomson syndrome (RTS) is an autosomal recessive genodermatosis presenting with congenital poikiloderma, caused by mutations in the RECQL4 gene. Congenital poikiloderma, is characterized by: cutaneous rash, skin atrophy and telangiectasic lesions with areas of hyperpigmentation or depigmentation. RTS is associated with short stature, sparse eyelashes, sparse eyebrows and sparse scalp hair, skeletal abnormalities, premature aging, photosensitivity, ungueal dystrophy and predisposition to skin and bone cancers. Here we report the case of a patient with Rothmund-Thomson syndrome type I.
Palabras clave : Genodermatosis; RECQL4 helicase; Congenital poikiloderma; Rothmund-Thomson syndrome.