Definition of Cataract with poikiloderma atrophicans

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Cataract with poikiloderma atrophicans: Also known as the Rothmund-Thomson syndrome, this is an hereditary disease characterized by progressive degeneration (atrophy), scarring and abnormal pigmentation of the skin together with stunting of growth, baldness, cataracts, depressed nasal bridge, and malformations of the teeth, nails and bone.

Poikiloderma atrophicans with cataract (the Rothmund-Thomson syndrome) is inherited as an autosomal recessive trait. A child born to parents each of whom has the RTS gene stands a 25% chance of receiving both RTS genes and having the disease. The RTS gene has been mapped (charted) and is known to be on chromosome 8.

The outlook (prognosis) for survival is generally fairly good. (An alternative name for this condition is poikiloderma congenita).

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