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Epidermolysis bullosa
Epidermolysis bullosa (EB) is a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.〔http://dermatology.stanford.edu/gsdc/eb_clinic/eb-faqs.html#common〕 It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.
The condition was brought to public attention in 2004 in the UK through the Channel 4 documentary ''The Boy Whose Skin Fell Off'', chronicling the life and death of Jonny Kennedy, an Englishman with EB. In the United States, the same could be said of the HBO documentary ''My Flesh and Blood'' from 2003.
"Butterfly Children" is a term often used to describe younger patients (because the skin is said to be as fragile as a butterfly’s wings), "Cotton Wool Babies", or (in South America) as "Crystal Skin Children".〔(【引用サイトリンク】title=DEBRA Chile website )〕
==Classification==
Epidermolysis bullosa refers to a group of inherited disorders that involve the formation of blisters following trivial trauma. Over 300 mutations have been identified in this condition.〔Koshida S, Tsukamura A, Yanagi T, Nakahara S, Takeuchi Y, Kato T, Tanaka T, Nakano H, Shimizu H (2013) Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene. Pediatr Int 55(2):234-7. doi: 10.1111/j.1442-200X.2012.03638.x〕 They have been classified into the following types:〔James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0-7216-2921-0.〕〔Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.〕
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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