Rothmund-Thomson syndrome
Definition
Rothmund-Thomson syndrome (RTS) is an extremely rare inherited disorder that appears in infancy and features skin degeneration (atrophic dermatosis), clouding of the lenses of the eyes (juvenile cataracts), skeletal abnormalities, short stature, and an increased risk of skin and bone cancers.
Description
Rothmund-Thomson syndrome is usually first apparent between three and six months of age. This disorder is characterized by early sun sensitivity and progressive degeneration or wasting (atrophy) of the skin as well as scarring and abnormal pigmentation of the skin. Other characteristic signs include sparse hair, clouding of the lenses of the eyes (juvenile cataracts), short stature, malformations of the face and head, teeth, nails, and bone, and other physical abnormalities. In...
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