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Meleda disease : ウィキペディア英語版 | Meleda disease
Meleda disease (MDM) or "mal de Meleda", also called Mljet disease, keratosis palmoplantaris and transgradiens of siemens, (also known as "Acral keratoderma,"〔 "Mutilating palmoplantar keratoderma of the Gamborg-Nielsen type,"〔 "Palmoplantar ectodermal dysplasia type VIII",〔Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.〕 and "Palmoplantar keratoderma of the Norrbotten type") is an extremely rare autosomal recessive congenital skin disorder in which dry, thick patches of skin develop on the soles of the hands and feet, a condition known as palmoplantar hyperkeratosis.〔James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0-7216-2921-0.〕 == Genetic prevalence ==
MDM is most common on the Dalmatian island of Mljet (or ''Meleda''), thought to be because of a founder effect. It is of autosomal recessive inheritance. It may be caused by a mutation on the ''SLURP1'' gene, located on chromosome 8.〔http://ghr.nlm.nih.gov/gene/SLURP1〕
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「Meleda disease」の詳細全文を読む
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