Rothmund-thomson syndrome: more than just a cosmetic concern

Rothmund-Thomson syndrome is a rare autosomal recessive poikilodermatous disorder with various inconsistent features. Clinical features of two siblings are described, which raised only just cosmetic concerns for the parents. The parents were counseled and advised regular follow-up for early detectio...

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Published inJournal of the College of Physicians and Surgeons--Pakistan Vol. 17; no. 7; pp. 423 - 424
Main Authors Raza, Naeem, Malik, Qudrat Ullah, Hussain, Zakir
Format Journal Article
LanguageEnglish
Published Pakistan 01.07.2007
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Summary:Rothmund-Thomson syndrome is a rare autosomal recessive poikilodermatous disorder with various inconsistent features. Clinical features of two siblings are described, which raised only just cosmetic concerns for the parents. The parents were counseled and advised regular follow-up for early detection of complications including malignancies and to protect the children from sun exposure by using broad spectrum sun screens and physical barriers.
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ISSN:1022-386X