Medical Definition of Poikiloderma congenita

Reviewed on 6/3/2021

Poikiloderma congenita: Better 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.

The outlook (prognosis) for survival is generally fairly good.

Rothmund-Thomson syndrome (RTS) 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 the disease. The RTS gene has been mapped (charted) and is on chromosome 8.

An alternative title for RTS is poikiloderma atrophicans with cataract.


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