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Cutis laxa
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Cutis laxa : ウィキペディア英語版
Cutis laxa

Cutis laxa (also known as Chalazoderma, Dermatochalasia, Dermatolysis, Dermatomegaly, Generalized elastolysis, Generalized elastorrhexis, or Pachydermatocele〔James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. Page 515. ISBN 0-7216-2921-0.〕) is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.
==Causes==
In most cases, cutis laxa is inherited. Autosomal dominant, autosomal recessive and X-linked recessive forms have been described, but acquired forms also occur.
Cutis laxa is associated with deficient or absent elastin fibers in the extracellular matrix.Various mutations in genes have been identified.
Cutis laxa may be caused by mutations in the genes: ELN, ATP6V0A2,
ATP7A, FBLN4, FBLN5, and PYCR1. A related neurocutaneous syndrome may be caused by mutations in the gene ALDH18A1 aka P5CS.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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