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• W1996989111 abstract "Syndromes involving premature skin aging provide outstanding models for a better understanding of both skin senescence and of the aging process in general. Although initially merely descriptive, these rare or indeed very rare conditions have been studied in detail and their genetic and biochemical background has been elucidated. The new data are now sufficiently accurate to allow the development of a new classification based on the underlying biochemical pathomechanisms. Three main subsets can be distinguished: progeroid syndromes with direct or indirect impairment of lamin A (progeria), syndromes involving dysfunction of the excision/repair apparatus (Cockayne syndrome), and conditions involving chromosome instability, particularly in the event of helicase mutation (Werner and Rothmund-Thomson syndromes, ataxia-telangiectasia). The diagnosis is still based on clinical examination in most cases, with the dermatologist commonly playing a key role because of the frequently obvious nature of skin changes, whereas other abnormalities may be less clear-cut or initially absent. Specialized genetic studies to confirm phenotypic hypothesis are increasingly available thanks to the development of reference centres. Although treatment continues to be symptomatic in most cases, recent advances in basic research have raised new hopes regarding targeted therapies, notably in progeria." @default.
• W1996989111 created "2016-06-24" @default.
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• W1996989111 date "2008-06-01" @default.
• W1996989111 modified "2023-09-26" @default.
• W1996989111 title "Syndromes avec vieillissement cutané prématuré : de l’expression phénotypique au gène" @default.
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• W1996989111 doi "https://doi.org/10.1016/j.annder.2008.04.006" @default.
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