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An unusual patient with Rothmund–Thomson syndrome, porokeratosis and bilateral iris dysgenesis
Author(s) -
Mak R. K. H.,
Griffiths W. A. D.,
Mellerio J. E.
Publication year - 2006
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2006.02080.x
Subject(s) - genodermatosis , poikiloderma , medicine , dysgenesis , iris (biosensor) , dermatology , pathology , anatomy , genetics , biology , computer security , gene , computer science , biometrics
Summary Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by poikiloderma and the variable presence of other features including skeletal and ocular abnormalities, ectodermal defects, and susceptibility to certain malignancies. We report a 40‐year‐old woman with known RTS who developed porokeratoses on her limbs in adulthood, an association that has not previously been reported. In addition, she had bilateral iris dysgenesis, which has only been described once before in RTS.