Rothmund-Thomson syndrome.

Abstract:

:Rothmund-Thomson syndrome is a rare inherited disorder characterized by poikilodermatous skin changes that appear in infancy. The inheritance is autosomal recessive. Patients exhibit variable features including skeletal abnormalities, juvenile cataracts, and a higher-than-expected incidence of malignancy. This article describes aspects of the inheritance, the incidence of characteristic features, and the malignant potential of Rothmund-Thomson syndrome. Insight into its origin is provided through a review of the clinical signs and symptoms, the in vitro studies of endocrine function, and the reported DNA repair abnormalities.

journal_name

Dermatol Clin

journal_title

Dermatologic clinics

authors

Vennos EM,James WD

subject

Has Abstract

pub_date

1995-01-01 00:00:00

pages

143-50

issue

1

eissn

0733-8635

issn

1558-0520

journal_volume

13

pub_type

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