関: epidermolysis bullosa lethalis、junctional epidermolysis bullosa

WordNet

the state of being joined together (同)conjunction, conjugation, colligation
an act of joining or adjoining things (同)adjunction
something that joins or connects (同)conjunction
the place where two or more things come together

PrepTutorEJDIC

〈U〉〈C〉連結すること(された状態),『結合』,連合,合体 / 〈C〉『結合点』,連結(接合,合流)点 / 〈C〉(鉄道の)『連絡駅』,接続駅
死をもたらす,致死の;死をもたらす目的の

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/01/12 14:44:46」(JST)

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Junctional epidermolysis bullosa gravis (also known as "Epidermolysis bullosa letalis," "Herlitz disease," "Herlitz epidermolysis bullosa," "Herlitz syndrome,"^[1] and "Lethal junctional epidermolysis bullosa") is the most lethal type of epidermolysis bullosa, a skin condition in which most patients do not survive infancy, characterized by blistering at birth with severe and clinically distinctive perorificial granulation tissue.^[2]^:557^[3]^:599

References

^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
^ 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.

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1. 表皮水疱症のマネージメントの概要 overview of the management of epidermolysis bullosa
2. 表皮水疱症の疫学、病因、分類、および臨床的特徴 epidemiology pathogenesis classification and clinical features of epidermolysis bullosa
3. 歯の発達障害 developmental defects of the teeth
4. 遺伝性皮膚症 the genodermatoses
5. 表皮水疱症の診断 diagnosis of epidermolysis bullosa

English Journal

A case of junctional epidermolysis bullosa with prurigo-like lesions and reduction of collagen XVII and filaggrin.

Cifuentes L, Kiritsi D, Chen W, Pennino J, Ring J, Weidinger S, Has C.SourceDepartment of Dermatology and Allergy Biederstein, Technische Universität München, Munich, Germany Department of Dermatology, University Medical Center Freiburg, Hauptstr. 7, 79104 Freiburg, Germany ZAUM - Center of Allergy and Environment, Technische Universitäet and Helmholtz Center, Munich, GermanyDepartment of Dermatology, Venereology and Allergy, University Hospital Schleswig-Holstein, Campus Kiel, Christian-Albrechts-Universität Kiel, Germany.
The British journal of dermatology.Br J Dermatol.2013 Jul;169(1):195-8. doi: 10.1111/bjd.12241.
PMID 23834121

Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations.

Schumann H, Kiritsi D, Pigors M, Hausser I, Kohlhase J, Peters J, Ott H, Hyla-Klekot L, Gacka E, Sieron AL, Valari M, Bruckner-Tuderman L, Has C.SourceDepartment of Dermatology, University Medical Center Freiburg, Hauptstr. 7, 79104, Freiburg, Germany; Catholic University of Applied Sciences, Freiburg, Germany.
The British journal of dermatology.Br J Dermatol.2013 Jul;169(1):115-24. doi: 10.1111/bjd.12317.
BACKGROUND: Integrin α6β4 is a transmembrane receptor and a key component of the hemidesmosome anchoring complex. It is involved in cell-matrix adhesion and signalling in various tissues. Mutations in the ITGA6 and ITGB4 genes coding for α6β4 integrin compromise dermal-epidermal adhesion and are
PMID 23496044

Junctional Epidermolysis Bullosa Incidence and Survival: 5-Year Experience of the Dystrophic Epidermolysis Bullosa Research Association of America (DebRA) Nurse Educator, 2007 to 2011.

Kelly-Mancuso G, Kopelan B, Azizkhan RG, Lucky AW.SourceDystrophic Epidermolysis Bullosa Research Association of America, New York, New York.
Pediatric dermatology.Pediatr Dermatol.2013 May 31. doi: 10.1111/pde.12157. [Epub ahead of print]
Junctional epidermolysis bullosa (JEB) is a particularly devastating type of epidermolysis bullosa, especially in the newborn period. Data about the number of new cases of JEB in the United States were collected from the records of the Dystrophic Epidermolysis Bullosa Research Association of America
PMID 23721227

Japanese Journal

ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia

ABE Masataka,SAWAMURA Daisuke,GOTO Maki,NAKAMURA Hideki,NAGASAKI Akari,NOMURA Yukiko,KAWASAKI Hiroyuki,ISOGAI Rieko,SHIMIZU Hiroshi
Journal of dermatological science 47(2), 165-167, 2007-08-01
NAID 10024116866

Lethal junctional epidermolysis bullosa showing mild blister at birth

KAWAI Hirokazu,HASEGAWA Motohiro,HAGIWARA Seiichi,SHIMIZU Hiroshi
Pediatrics international : official journal of the Japan Pediatric Society 41(5), 571-574, 1999-10-01
NAID 10009525539

Lethal junctional epidermolysis bullosa showing mild blister at birth

KAWAI H
Pediatr Int 41, 571-574, 1999
NAID 30014476843

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★リンクテーブル★

リンク元	「致死性表皮水疱症」「epidermolysis bullosa lethalis」
関連記事	「lethal」「junction」「junctional」「epidermolysis」