Abstract

ZARANTE, AM; SUAREZ-OBANDO, F  and  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.

Keywords : Genodermatosis; RECQL4 helicase; Congenital poikiloderma; Rothmund-Thomson syndrome.