致死性表皮水疱症
- 関
- lethal junctional epidermolysis bullosa
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/07/03 09:26:42」(JST)
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| Junctional epidermolysis bullosa (medicine) |
| Classification and external resources |
| ICD-10 |
Q81.8 (ILDS Q81.850) |
| ICD-9 |
757.39 |
| OMIM |
226700 226650 226730 |
| DiseasesDB |
29579 |
| MeSH |
D016109 |
| GeneReviews |
- Junctional Epidermolysis Bullosa
|
Junctional epidermolysis bullosa is a skin condition characterized by blister formation within the lamina lucida of the basement membrane zone.[1]:599
Contents
- 1 Classification
- 1.1 Junctional epidermolysis bullosa with pyloric atresia
- 1.2 Herlitz type
- 1.3 Non-Herlitz type
- 2 Pathophysiology
- 3 See also
- 4 References
- 5 External links
Classification
| OMIM |
Name |
Locus |
Gene |
| 226730 |
Junctional epidermolysis bullosa with pyloric atresia |
17q11-qter, 2q31.1 |
ITGB4, ITGA6 |
| 226700 |
Junctional epidermolysis bullosa, Herlitz type |
18q11.2, 1q32, 1q25-q31 |
LAMA3, LAMB3, LAMC2 |
| 226650 |
epidermolysis bullosa, junctional, non-Herlitz types (Generalized atrophic benign epidermolysis bullosa, Mitis junctional epidermolysis bullosa) |
18q11.2, 1q32, 17q11-qter, 1q25-q31, 10q24.3 |
LAMA3, LAMB3, LAMC2, COL17A1, ITGB4 |
Junctional epidermolysis bullosa with pyloric atresia
Junctional epidermolysis bullosa with pyloric atresia is a rare autosomal recessive form of junctional epidermolysis bullosa that presents at birth with severe mucocutaneous fragility and gastric outlet obstruction.[2]:557 It can be associated with ITGB4 or ITGA6.[3]
Herlitz type
Junctional epidermolysis bullosa gravis (also known as "Herlitz disease," "Herlitz syndrome," 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[1]:599[4]
Non-Herlitz type
These include:
- Generalized atrophic benign epidermolysis bullosa is a skin condition that is characterized by onset at birth, generalized blisters and atrophy, mucosal involvement, and thickened, dystrophic, or absent nails.[2]:557[1]:600
- Mitis junctional epidermolysis bullosa (also known as "Nonlethal junctional epidermolysis bullosa") is a skin condition characterized by scalp and nail lesions, also associated with periorificial nonhealing erosions.[1]:599 Mitis junctional epidermolysis bullosa is most commonly seem in children between the ages of 4 and 10 years old.[1]:600
- Cicatricial junctional epidermolysis bullosa is a skin condition characterized by blisters that heal with scarring.[2]:557 It was characterized in 1985.[5]
Pathophysiology
α6β4 integrin is a transmembrane protein found in hemidesmosomes. As a heterodimer molecule containing two polypeptide chains its extracellular domain enters the basal lamina and interacts with type IV collagen suprastructure containing laminins (laminin-5), entactin/nidongen or the perlecan. on the extracellular surface of the hemidesmosome, laminin-5 molecules form threadlike anchoring filaments that extend from the integrin molecules to the structure of the basement membrane of epithelial adhesion. Mutation of the genes encoding laminin-5 chains results in junctional epidermolysis bullosa.[6]
See also
- Epidermolysis bullosa
- Skin lesion
References
- ^ a b c d e Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ^ a b c d James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 226730
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ Haber RM, Hanna W, Ramsay CA, Boxall LB (May 1985). "Cicatricial junctional epidermolysis bullosa". J. Am. Acad. Dermatol. 12 (5 Pt 1): 836–44. doi:10.1016/S0190-9622(85)70105-3. PMID 4008687.
- ^ Histology A Text And Atlas by Michael H. Ross
External links
- GeneReview/NIH/UW entry on Junctional Epidermolysis Bullosa
|
Genetic disorder, extracellular: scleroprotein disease (excluding laminin and keratin)
|
|
| Collagen disease |
| COL1: |
- Osteogenesis imperfecta
- Ehlers–Danlos syndrome, types 1, 2, 7
|
|
| COL2: |
- Hypochondrogenesis
- Achondrogenesis type 2
- Stickler syndrome
- Marshall syndrome
- Spondyloepiphyseal dysplasia congenita
- Spondyloepimetaphyseal dysplasia, Strudwick type
- Kniest dysplasia (see also C2/11)
|
|
| COL3: |
- Ehlers–Danlos syndrome, types 3 & 4
|
|
| COL4: |
|
|
| COL5: |
- Ehlers–Danlos syndrome, types 1 & 2
|
|
| COL6: |
- Bethlem myopathy
- Ullrich congenital muscular dystrophy
|
|
| COL7: |
- Epidermolysis bullosa dystrophica
- Recessive dystrophic epidermolysis bullosa
- Bart syndrome
- Transient bullous dermolysis of the newborn
|
|
| COL8: |
|
|
| COL9: |
- Multiple epiphyseal dysplasia 2, 3, 6
|
|
| COL10: |
- Schmid metaphyseal chondrodysplasia
|
|
| COL11: |
- Weissenbacher–Zweymüller syndrome
- Otospondylomegaepiphyseal dysplasia (see also C2/11)
|
|
| COL17: |
|
|
|
| Laminin |
- Junctional epidermolysis bullosa
- Laryngoonychocutaneous syndrome
|
|
| Other |
- Congenital stromal corneal dystrophy
- Raine syndrome
- Urbach–Wiethe disease
- TECTA
|
|
see also fibrous proteins
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
|
|
UpToDate Contents
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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. 表皮水疱症の診断 diagnosis of epidermolysis bullosa
- 3. 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
- 4. 後天性表皮水疱症 epidermolysis bullosa acquisita
- 5. 遺伝性皮膚症 the genodermatoses
English Journal
- Distal foregut atresias in consecutive siblings and twins in the same family.
- Gahukamble DB, Adnan AR, Al Gadi M.SourceDepartment of Pediatric Surgery, Faculty of Medicine, Al Arab Medical University, Benghazi, Libya.
- Pediatric surgery international.Pediatr Surg Int.2003 Jun;19(4):288-92. Epub 2003 May 9.
- The distal foregut comprises the antrum of the stomach and supra-ampullary region of the duodenum. In this part of the gut, intraluminal mucosal diaphragms, webs, membranes (type I), and rarely solid cord (type II) atresias are occasionally seen in clinical practice. Due to increased awareness, the
- PMID 12739034
- PMID 11527195
Japanese Journal
Related Links
- a form of epidermolysis bullosa characterized by persistent and nonhealing perioral and perinasal crusted lesions with bullae often present in the oral mucosa ... Herlitz syndrome - epidermolysis bullosa in which the bullae are ...
- a form of epidermolysis bullosa characterized by persistent and nonhealing perioral and perinasal crusted lesions with bullae often present in the oral mucosa and trachea, but not on the palms and soles, complicated by dermal sepsis ...
- Epidermolysis Bullosa, Junctional Epidermolysis bullosa lethalis Svensk definition En form av epidermolysis bullosa som uppkommer redan vid födseln eller under neonatalperioden och som har en autosomal, recessiv ärftlighet.
★リンクテーブル★
[★]
- ラ
- lethal junctional epidermolysis bullosa、epidermolysis bullosa lethalis
- 関
- 接合部型表皮水疱症
[★]
致死性表皮水疱症
- 関
- epidermolysis bullosa lethalis、junctional epidermolysis bullosa
[★]
- 関
- deadly、fatal、fatally、lethally、mortal、vital
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