Poikiloderma atrophicans with cataract
- Poikiloderma atrophicans with cataract
- 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. 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).
Medical dictionary.
2011.
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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… … Medical dictionary
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… … Medical dictionary
poikiloderma — A variegated hyperpigmentation and telangiectasia of the skin, followed by atrophy. [poikilo + G. derma, skin] p. atrophicans and cataract SYN: Rothmund syndrome. p. atrophicans vasculare a rare condition that simulates chronic … Medical dictionary
RTS (Rothmund-Thomson syndrome) — 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… … Medical dictionary
Syndrome, Rothmund-Thomson — 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… … Medical dictionary
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
