Brochure of Hereditary Epidermolysis Bullosa
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8 12 14 16 20 24 46 52 61 65 Q&A 70 72 90 105 111 118 3
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給父母的話
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疾病面面觀
Hereditary Epidermolysis Bullosa EB 118 29 30 keratin5 20
14 laminin-5 7 50,000 21
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Weber-Cockayne Weber-Cockayne 24
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Kallin Koebner 2 5 2 5 Ogna Gedde-Dahl 26
1. 1 8000 2. 3. 27
4. 28
A. 1.Weber-Cockayne 2. Koebner 3. Dowling- Meara 1. 2. 3. Kallin 4. 5. 6. Ogna Gedde-Dahl B. 1. 2. 3. 4. 5. 6. Cockayne-Touraine 7. Hallopeau-Siemens 8. C. 1. Herlitz 2. 3. 3 29
Epidermolysis bullosa simplex 1. EBS localized to hands and feet Weber- Cockayne type 2. Generalized EBS Koebner type 3. EBS herpetiformis Dowling-Meara type 1. EBS with muscular dystrophy 2. EBS superficialis 3. Kallin's syndrome 4. EBS with mottled pigmentation 5. "Lethal" autosomal recessive EBS 6.Ogna variant of EBS Dystrophic epidermolysis bullosa 1. Autosomal recessive dystrophic EB 2. Albopapuloid dystrophic EB 3. EB pruriginosa 4. Pretibial EB 5. Transient bullous dermolysis 6. Cockayne-Touraine dystrophic EB 7. Hallopeau-Siemens dystrophic EB 8. Autosomal dominant dystrophic EB Junctional epidermolysis bullosa 1. Herlitz JEB Lethal JEB 2. Benign JEB 3. JEB with pyloric atresia ** There are almost certainly intermediate type in addition. 30
1.4 3 7 COL-7A1 3 31
20 30 4 32
7 2 1. 2. 33
3. 4. 20 34
5. 35
1. 3 3 6 2. 36
3. 4. 37
5.!!! 6. 38
7. 8. 9. 39
MCV 10. 11. 40
41
1 1 42
Laminin Herlitz 43
Herlitz 44
Herlitz 2 45
46
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50
!! 51
1. 2. 3. 4. 1. 2. 30 24-26 52
3. / 4. 5. 1. 2. 3. 4. (1) (2) (3) 5. 6. 7. 8. 53
/ / / / 1 2.0-2.5 90-120 1-7 2.5-3.0 75-90 8-12 2.0-3.0 60-75 13-18 1.5-2.5 30-60 19 0.8-2.0 25-35 54
A B B C 55
D D --- 56
1. / 2. 3. / 4. 5. 6. ( ) 1. 2. 3. 1. 2. 3. 57
4. 5. 6. 7. 1. 2. 3. 4. 1. 2. 3. 4. 58
1 15 1/2 1. 2. 3. 4. 1. 2. 1 1 1. 2. 3. 1. 2. 59
60 200 / 1. 2. 3. 1. 2. 1 / 1. 2. / 1. 2. 60
50 92% 5% 1% 2% 3 20 50% 61
25% 50% 62
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25% DNA 64
EB 1) EB EB Medical Research Foundation (EBMRF) http://ebkids.org/ 2) EB Dystrophic Epidermolysis Bullosa Research Association of International (DebRA International) http://www.debra-international.org/ 3) EB Dystrophic Epidermolysis Bullosa Research Association of America (DebRA of America) http://www.debra.org/ 65
4) EB Dystrophic Epidermolysis Bullosa Research Association of UK (DebRA UK) http://www.debra.org.uk/ 5) EB Dystrophic Epidermolysis Bullosa Research Association of Canada (DEBRA Canada) http://www.debracanada.org 93 9 EB 66
1) 830 204 http://www.eb.org.tw/ (07)743-8939 (02)740-2409 E-mail:taiwanebz009@gmail.com 98 6 2) 104 20 6 http://www.tfrd.org.tw (02)2521-0717 (02)2567-3560 67
遺傳性表皮分解性水皰症 參考文獻資料 1. Andrew N. Lin. Epidermolysis bullosa. Journal of rare diseases Volume II, No. 1 p7-14, 1996. 2. http://www.debra.org DEBRA 美國網站 3. David J. Atherton. Epidermolysis bullosa. 4. About EB http://www.debra.org/modules.php?op = modload&name = News&file = article&sid = 12 5. Epidermolysis Bullosa emedicine http://www. emedicine.com/derm/topic124.htm 6. 罕見疾病基金會 罕病宣導品 - 認識罕見遺傳疾病 系 列 13 遺傳性表皮分解性水皰症 - 泡泡龍 http:// www.tfrd.org.tw./aca/dm/dm1_13.html 7. EB Info World http://ebworld.faithweb.com/ 8. Birge K. Nutrition management of patients with epidermolysis bullosa. J Am Diet Assoc. 1995 May;95(5):575-79. 圖六 用愛攜手走遠路 94 年 5 月 在罕見疾病基金會及美商如新華茂公司支持下 泡泡 龍病友鹿港文化之旅帶給病友們無限美好的回憶 68
Q&A 問與答
Q A Q? A Hereditary epidermolysis bullosa EB 70
Q A Q? A keratin 5 or 14 laminin-5 7 50000 67 Q? A 71
Q A Q? A 91 9 1 96 7 11 101 7 11 WHO ICF ICF 72
Q A Q? A http://www.cbi.gov.tw/ welcome.jsp Q? A 73
Q? A 74
Q A? 1. 2. 3. 4. 5.? 1. 80% 2. (1) 75
(2) 1. 2. 3. (1) p.77 (2) (3) (4) p.79 4. 76
77 Q A
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79 Q A
Q? A 1. 2. 3. 4. 5. 6. 7. 8. 80
Q A 02-2787-8200 Q < >? A 91 9 p.82 30 IC 81
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Q A Q IC?? A 1. 94 3 28 IC IC 2. 3. 83
Q? A IC IC IC IC IC IC Q? A 1. 1 2. 84
Q A Q?? A 1. 2. (1) (2) Q? A 1. (1) 85
(2) (3) 2. (1) (2) (3) 86
Q A 1. 104 7 11 108 7 10 2. 101 7 11 104 7 10 3. 104 7 4. http://www.doh.gov.tw http://www.topwin.com.tw/moi/index.html 87
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心情留言板
5 6 90
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Ting 92
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170 EB 96
- baby 97
mepitel 98
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1. 24 2. (1) 15 10 100
(2) (3) (4) 101
(5) (6) (7) 94.6.15. 102
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小小精靈 ~ 佩菁成長日記 佩菁小檔案生日 :1988/12/02 血型 :AB 星座 : 射手最想做的事 : 考上理想的藝術大學 最大的期待 : 醫術進步讓我的身體快快好起來, 和全家人一起旅行 佩菁的話 : 我的病連醫生都束手無策, 但我媽可是突破難關, 不眠不休, 上刀山下油鍋也願意為我犧牲, 我好感謝她! 希望下輩子我們還要當母女, 我們約好了哦, 下輩子我當媽媽, 她當女兒, 讓我來照顧她 105
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小小精靈 ~ 凱文成長日記 凱文小檔案生日 :1993/9/9 血型 :O 星座 : 處女座最想做的事 : 能夠跟朋友出去玩 最大的期待 : 希望我的病可以好起來 凱文的話 : 謝謝育幼院的老師們, 謝謝大家疼愛我照顧我, 希望大家都很快樂平安 111
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(CIP) /. -- 101. 12. -- ; 9 ISBN 978-986-86450-6-6 1. 2. 417.9 101026733 20 6 02-25210717 02-25673560 Http://www.tfrd.org.tw E-mail tfrd@tfrd.org.tw 19343551